chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 186,132,407 | A | G | false | missense_variant | 114 | rs10911825 | 0.000077 | 0.24852 | 151.21 | missense_variant | missense_variant | ENSG00000143341 | 0 | ENSG00000143341 | 21,418 | 0 | ENSG00000143341 | missense_variant | ENSG00000143341 | 38,979 | ENSG00000143341 | 21,418 | 21,418 | ENSG00000143341 | missense_variant | NA | NA | |
1 | 186,613,530 | A | C | true | distal | 161 | rs12751255 | 0.999795 | eGFRcys | 0.3652 | 271.38 | intergenic_variant | intergenic_variant | ENSG00000073756 | 58,260 | ENSG00000288562 | 11,169 | 11,169 | ENSG00000288562 | intergenic_variant | ENSG00000073756 | 66,892 | ENSG00000288562 | 11,169 | 11,169 | ENSG00000288562 | distal | NA | NA |
1 | 186,839,211 | G | T | false | distal | 34 | rs3820185 | 0.000031 | 0.32885 | 100.52 | intron_variant | dELS | ENSG00000116711 | 10,175 | ENSG00000116711 | 15,074 | 10,175 | ENSG00000116711 | dELS | ENSG00000116711 | 10,261 | ENSG00000116711 | 15,074 | 10,261 | ENSG00000116711 | distal | NA | NA | |
1 | 187,307,421 | A | G | false | non_coding_transcript_exon_variant | 123 | rs1390496 | 0.001301 | 0.264 | 180.02 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000116711 | 318,439 | ENSG00000230426 | 0 | 0 | ENSG00000230426 | non_coding_transcript_exon_variant | ENSG00000116711 | 478,471 | ENSG00000230426 | 26 | 26 | ENSG00000230426 | non_coding_transcript_exon_variant | NA | NA | |
1 | 190,540,222 | G | T | false | distal | 5 | rs72733029 | 0.000009 | 0.040969 | 117.06 | intergenic_variant | dELS_flank | ENSG00000162670 | 62,357 | ENSG00000241505 | 45,924 | 45,924 | ENSG00000241505 | dELS_flank | ENSG00000162670 | 62,357 | ENSG00000241505 | 59,842 | 59,842 | ENSG00000241505 | distal | NA | NA | |
1 | 191,859,091 | A | C | false | non_coding_transcript_exon_variant | 123 | rs3904981 | 0.000001 | 0.25985 | 253.69 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000150681 | 299,370 | ENSG00000223344 | 0 | 0 | ENSG00000223344 | non_coding_transcript_exon_variant | ENSG00000150681 | 299,370 | ENSG00000223344 | 7,868 | 7,868 | ENSG00000223344 | non_coding_transcript_exon_variant | NA | NA | |
1 | 192,127,313 | G | A | false | distal | 158 | rs533685984 | 0.000001 | 0.003176 | 14.079 | intergenic_variant | intergenic_variant | ENSG00000150681 | 31,148 | ENSG00000150681 | 31,171 | 31,148 | ENSG00000150681 | intergenic_variant | ENSG00000150681 | 31,148 | ENSG00000150681 | 31,171 | 31,148 | ENSG00000150681 | distal | NA | NA | |
1 | 192,578,661 | T | C | false | 3_prime_UTR_variant | 135 | rs2760532 | 0.000003 | 0.056565 | 33.88 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000090104 | 0 | ENSG00000090104 | 275 | 0 | ENSG00000090104 | 3_prime_UTR_variant | ENSG00000090104 | 2,887 | ENSG00000090104 | 2,885 | 2,885 | ENSG00000090104 | 3_prime_UTR_variant | NA | NA | |
1 | 192,578,911 | C | T | false | 3_prime_UTR_variant | 135 | rs2760533 | 0.000002 | 0.056009 | 34.3 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000090104 | 0 | ENSG00000090104 | 225 | 0 | ENSG00000090104 | 3_prime_UTR_variant | ENSG00000090104 | 3,137 | ENSG00000090104 | 3,135 | 3,135 | ENSG00000090104 | 3_prime_UTR_variant | NA | NA | |
1 | 192,579,413 | T | G | false | 3_prime_UTR_variant | 133 | rs1323291 | 0.000001 | 0.090052 | 42.495 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000090104 | 0 | ENSG00000090104 | 0 | 0 | ENSG00000090104 | 3_prime_UTR_variant | ENSG00000090104 | 3,639 | ENSG00000090104 | 3,637 | 3,637 | ENSG00000090104 | 3_prime_UTR_variant | NA | NA | |
1 | 192,579,429 | G | C | false | 3_prime_UTR_variant | 133 | rs2816308 | 0.000001 | 0.090101 | 42.524 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000090104 | 0 | ENSG00000090104 | 0 | 0 | ENSG00000090104 | 3_prime_UTR_variant | ENSG00000090104 | 3,655 | ENSG00000090104 | 3,653 | 3,653 | ENSG00000090104 | 3_prime_UTR_variant | NA | NA | |
1 | 193,121,735 | C | A | false | tss_proximal | 139 | rs10737621 | 0.000091 | 0.32154 | 345.1 | upstream_gene_variant | PLS_flank | ENSG00000134371 | 295 | ENSG00000134371 | 247 | 247 | ENSG00000134371 | tss_proximal | ENSG00000134371 | 295 | ENSG00000134371 | 247 | 247 | ENSG00000134371 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 193,122,854 | C | G | false | tss_proximal | 139 | rs4450000 | 0.000099 | 0.32092 | 345.61 | intron_variant | pELS | ENSG00000134371 | 522 | ENSG00000134371 | 247 | 247 | ENSG00000134371 | tss_proximal | ENSG00000134371 | 673 | ENSG00000134371 | 318 | 318 | ENSG00000134371 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 193,631,869 | G | A | false | distal | 14 | rs2370438 | 0.00002 | 0.30916 | 208.63 | intron_variant | dELS_flank | ENSG00000134371 | 377,053 | ENSG00000227240 | 41,340 | 41,340 | ENSG00000227240 | dELS_flank | ENSG00000162630 | 445,255 | ENSG00000226640 | 47,024 | 47,024 | ENSG00000226640 | distal | NA | NA | |
1 | 196,756,501 | A | C | false | distal | 162 | rs188303944 | 0.000174 | 0.17346 | 335.98 | intergenic_variant | intergenic_variant | ENSG00000000971 | 4,024 | ENSG00000000971 | 8,884 | 4,024 | ENSG00000000971 | intergenic_variant | ENSG00000116785 | 18,311 | ENSG00000000971 | 11,749 | 11,749 | ENSG00000000971 | distal | NA | NA | |
1 | 196,824,327 | C | G | false | tss_proximal | 177 | rs388403 | 0.000106 | 0.42008 | 375.81 | intron_variant | intron_variant | ENSG00000244414 | 1,149 | ENSG00000244414 | 896 | 896 | ENSG00000244414 | tss_proximal | ENSG00000244414 | 4,545 | ENSG00000244414 | 896 | 896 | ENSG00000244414 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 196,824,448 | G | A | false | tss_proximal | 177 | rs424108 | 0.000107 | 0.42004 | 375.83 | intron_variant | intron_variant | ENSG00000244414 | 1,028 | ENSG00000244414 | 775 | 775 | ENSG00000244414 | tss_proximal | ENSG00000244414 | 4,666 | ENSG00000244414 | 775 | 775 | ENSG00000244414 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 196,948,498 | A | C | false | missense_variant | 87 | rs141298285 | 0.000035 | 0.023928 | 61.941 | missense_variant | missense_variant | ENSG00000080910 | 0 | ENSG00000080910 | 956 | 0 | ENSG00000080910 | missense_variant | ENSG00000080910 | 1,001 | ENSG00000080910 | 1,692 | 1,001 | ENSG00000080910 | missense_variant | NA | NA | |
1 | 196,949,608 | C | T | false | missense_variant | 72 | rs144096230 | 0.000042 | 0.004707 | 21.861 | missense_variant | missense_variant | ENSG00000080910 | 0 | ENSG00000080910 | 0 | 0 | ENSG00000080910 | missense_variant | ENSG00000080910 | 2,111 | ENSG00000080910 | 582 | 582 | ENSG00000080910 | missense_variant | NA | NA | |
1 | 196,959,058 | A | G | false | missense_variant | 73 | rs41310132 | 0.000161 | 0.017322 | 41.662 | missense_variant | missense_variant | ENSG00000080910 | 0 | ENSG00000080910 | 0 | 0 | ENSG00000080910 | missense_variant | ENSG00000080910 | 11,561 | ENSG00000080910 | 8,866 | 8,866 | ENSG00000080910 | missense_variant | NA | NA | |
1 | 197,177,014 | A | C | false | distal | 49 | rs10429911 | 0.000068 | 0.10349 | 351.84 | intron_variant | dELS | ENSG00000177888 | 343 | ENSG00000177888 | 343 | 343 | ENSG00000177888 | dELS | ENSG00000177888 | 24,278 | ENSG00000177888 | 23,506 | 23,506 | ENSG00000177888 | distal | NA | NA | |
1 | 197,511,856 | C | T | false | missense_variant | 85 | rs10494755 | 0.000138 | 0.10598 | 162.78 | missense_variant | missense_variant | ENSG00000213047 | 0 | ENSG00000213047 | 0 | 0 | ENSG00000213047 | missense_variant | ENSG00000134376 | 69,685 | ENSG00000213047 | 34,916 | 34,916 | ENSG00000213047 | missense_variant | NA | NA | |
1 | 197,746,687 | G | A | false | tss_proximal | 182 | rs146350028 | 0.000133 | 0.016566 | 68.82 | intron_variant | CA-TF_flank | ENSG00000213047 | 10,890 | ENSG00000233040 | 63 | 63 | ENSG00000233040 | tss_proximal | ENSG00000213047 | 28,504 | ENSG00000233040 | 763 | 763 | ENSG00000233040 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 197,955,640 | G | A | true | distal | 61 | rs17583875 | 0.939775 | SHBG | 0.021207 | 50.043 | intergenic_variant | dELS | ENSG00000143355 | 20,161 | ENSG00000143355 | 42,459 | 20,161 | ENSG00000143355 | dELS | ENSG00000143355 | 38,267 | ENSG00000143355 | 43,509 | 38,267 | ENSG00000143355 | distal | NA | NA |
1 | 198,467,522 | A | G | false | distal | 66 | rs4463705 | 0.000113 | 0.051223 | 131.34 | intron_variant | dELS | ENSG00000151418 | 55,699 | ENSG00000287989 | 14,766 | 14,766 | ENSG00000287989 | dELS | ENSG00000151418 | 73,151 | ENSG00000287989 | 52,354 | 52,354 | ENSG00000287989 | distal | NA | NA | |
1 | 198,637,545 | C | A | false | tss_proximal | 137 | rs12141286 | 0.001682 | 0.022581 | 154.43 | upstream_gene_variant | pELS_flank | ENSG00000081237 | 911 | ENSG00000081237 | 1,527 | 911 | ENSG00000081237 | tss_proximal | ENSG00000081237 | 911 | ENSG00000081237 | 1,527 | 911 | ENSG00000081237 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 198,644,825 | T | A | true | distal | 62 | rs1326269 | 0.996815 | RBC | 0.39163 | 114.3 | intron_variant | dELS | ENSG00000081237 | 5,483 | ENSG00000081237 | 5,483 | 5,483 | ENSG00000081237 | dELS | ENSG00000081237 | 5,662 | ENSG00000081237 | 5,536 | 5,536 | ENSG00000081237 | distal | NA | NA |
1 | 198,694,217 | G | A | false | 3_prime_UTR_variant | 134 | rs78958674 | 0.000577 | 0.066339 | 50.742 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000081237 | 0 | ENSG00000081237 | 1,843 | 0 | ENSG00000081237 | 3_prime_UTR_variant | ENSG00000081237 | 55,054 | ENSG00000081237 | 2,663 | 2,663 | ENSG00000081237 | 3_prime_UTR_variant | NA | NA | |
1 | 198,694,532 | G | A | true | 3_prime_UTR_variant | 134 | rs10494783 | 1 | Lym | 0.050921 | 156.91 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000081237 | 0 | ENSG00000081237 | 2,158 | 0 | ENSG00000081237 | 3_prime_UTR_variant | ENSG00000081237 | 55,369 | ENSG00000081237 | 2,348 | 2,348 | ENSG00000081237 | 3_prime_UTR_variant | NA | NA |
1 | 198,710,499 | T | C | false | non_coding_transcript_exon_variant | 122 | rs112055243 | 0.000607 | 0.011311 | 44.677 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 674 | ENSG00000081237 | 0 | 0 | ENSG00000081237 | non_coding_transcript_exon_variant | ENSG00000081237 | 71,336 | ENSG00000081237 | 2,229 | 2,229 | ENSG00000081237 | non_coding_transcript_exon_variant | NA | NA | |
1 | 198,710,886 | G | A | true | non_coding_transcript_exon_variant | 122 | rs12733073 | 0.99986 | Lym,eGFRcys | 0.010125 | 16.938 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 1,061 | ENSG00000081237 | 0 | 0 | ENSG00000081237 | non_coding_transcript_exon_variant | ENSG00000081237 | 71,723 | ENSG00000081237 | 1,842 | 1,842 | ENSG00000081237 | non_coding_transcript_exon_variant | NA | NA |
1 | 198,711,104 | A | G | false | non_coding_transcript_exon_variant | 122 | rs12134126 | 0.00274 | 0.01687 | 183.53 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 1,279 | ENSG00000081237 | 0 | 0 | ENSG00000081237 | non_coding_transcript_exon_variant | ENSG00000081237 | 71,941 | ENSG00000081237 | 1,624 | 1,624 | ENSG00000081237 | non_coding_transcript_exon_variant | NA | NA | |
1 | 198,711,196 | C | T | false | non_coding_transcript_exon_variant | 122 | rs75024743 | 0.000325 | 0.013012 | 29.561 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 1,371 | ENSG00000081237 | 0 | 0 | ENSG00000081237 | non_coding_transcript_exon_variant | ENSG00000081237 | 72,033 | ENSG00000081237 | 1,532 | 1,532 | ENSG00000081237 | non_coding_transcript_exon_variant | NA | NA | |
1 | 198,711,341 | C | T | false | non_coding_transcript_exon_variant | 122 | rs150905683 | 0.000197 | 0.013205 | 24.712 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 1,516 | ENSG00000081237 | 0 | 0 | ENSG00000081237 | non_coding_transcript_exon_variant | ENSG00000081237 | 72,178 | ENSG00000081237 | 1,387 | 1,387 | ENSG00000081237 | non_coding_transcript_exon_variant | NA | NA | |
1 | 198,750,089 | T | C | false | tss_proximal | 166 | rs35549117 | 0.000113 | 0.015494 | 42.763 | intron_variant | dELS_flank | ENSG00000081237 | 402 | ENSG00000081237 | 402 | 402 | ENSG00000081237 | tss_proximal | ENSG00000081237 | 110,926 | ENSG00000081237 | 795 | 795 | ENSG00000081237 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 199,007,363 | C | T | false | non_coding_transcript_exon_variant | 123 | rs12239179 | 0.009236 | 0.24558 | 103.34 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 249,886 | ENSG00000233410 | 0 | 0 | ENSG00000233410 | non_coding_transcript_exon_variant | ENSG00000081237 | 368,200 | ENSG00000235492 | 8,769 | 8,769 | ENSG00000235492 | non_coding_transcript_exon_variant | NA | NA | |
1 | 199,007,391 | A | G | false | non_coding_transcript_exon_variant | 123 | rs12240178 | 0.000219 | 0.34224 | 187.45 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 249,914 | ENSG00000233410 | 0 | 0 | ENSG00000233410 | non_coding_transcript_exon_variant | ENSG00000081237 | 368,228 | ENSG00000235492 | 8,741 | 8,741 | ENSG00000235492 | non_coding_transcript_exon_variant | NA | NA | |
1 | 199,041,592 | C | T | true | non_coding_transcript_exon_variant | 123 | rs1434282 | 0.99969 | MCH,MCV,RBC | 0.27427 | 114.65 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000081237 | 284,115 | ENSG00000286541 | 0 | 0 | ENSG00000286541 | non_coding_transcript_exon_variant | ENSG00000081237 | 402,429 | ENSG00000233410 | 20,554 | 20,554 | ENSG00000233410 | non_coding_transcript_exon_variant | NA | NA |
1 | 200,437,599 | C | G | false | distal | 58 | rs562826366 | 0.000204 | 0.001782 | 7.2922 | intron_variant | dELS | ENSG00000162702 | 27,542 | ENSG00000230623 | 6,887 | 6,887 | ENSG00000230623 | dELS | ENSG00000162702 | 27,542 | ENSG00000230623 | 6,887 | 6,887 | ENSG00000230623 | distal | NA | NA | |
1 | 200,620,703 | G | A | false | 5_prime_UTR_variant | 126 | rs2808244 | 0.000253 | 0.10601 | 148.51 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000118193 | 0 | ENSG00000260088 | 48,803 | 0 | ENSG00000118193 | 5_prime_UTR_variant | ENSG00000118193 | 47 | ENSG00000260088 | 48,803 | 47 | ENSG00000118193 | 5_prime_UTR_variant | NA | NA | |
1 | 200,669,534 | G | A | false | non_coding_transcript_exon_variant | 121 | rs11588318 | 0.001394 | 0.47139 | 216.26 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000118197 | 32 | ENSG00000260088 | 0 | 0 | ENSG00000260088 | non_coding_transcript_exon_variant | ENSG00000118197 | 173 | ENSG00000260088 | 26 | 26 | ENSG00000260088 | non_coding_transcript_exon_variant | NA | NA | |
1 | 200,789,253 | G | A | false | distal | 61 | rs114130390 | 0.000543 | 0.017898 | 38.876 | intron_variant | dELS | ENSG00000118200 | 18,122 | ENSG00000118200 | 42,854 | 18,122 | ENSG00000118200 | dELS | ENSG00000118200 | 49,473 | ENSG00000118200 | 42,854 | 42,854 | ENSG00000118200 | distal | NA | NA | |
1 | 200,908,898 | A | T | false | missense_variant | 94 | rs41313912 | 0.000072 | 0.014774 | 15.529 | missense_variant | missense_variant | ENSG00000163362 | 0 | ENSG00000163362 | 0 | 0 | ENSG00000163362 | missense_variant | ENSG00000163362 | 13,997 | ENSG00000163362 | 402 | 402 | ENSG00000163362 | missense_variant | NA | NA | |
1 | 200,918,529 | C | T | false | distal | 153 | rs296539 | 0.001325 | 0.3654 | 136.58 | intron_variant | pELS | ENSG00000163362 | 2,786 | ENSG00000233217 | 981 | 981 | ENSG00000233217 | pELS | ENSG00000163362 | 23,628 | ENSG00000233217 | 1,068 | 1,068 | ENSG00000233217 | distal | NA | NA | |
1 | 201,023,573 | G | A | false | 5_prime_UTR_variant | 128 | rs185073142 | 0.000193 | 0.001651 | 70.644 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000116852 | 0 | ENSG00000229191 | 375 | 0 | ENSG00000116852 | 5_prime_UTR_variant | ENSG00000116852 | 126 | ENSG00000229191 | 375 | 126 | ENSG00000116852 | 5_prime_UTR_variant | NA | NA | |
1 | 201,047,168 | G | A | true | missense_variant | 107 | rs3850625 | 1 | AST,eGFR,sCr | 0.11856 | 37.309 | missense_variant | missense_variant | ENSG00000081248 | 0 | ENSG00000081248 | 0 | 0 | ENSG00000081248 | missense_variant | ENSG00000116852 | 23,453 | ENSG00000234132 | 12,071 | 12,071 | ENSG00000234132 | missense_variant | NA | NA |
1 | 201,089,385 | C | T | false | missense_variant | 84 | rs35534614 | 0.000251 | 0.010907 | 14.73 | missense_variant | missense_variant | ENSG00000081248 | 0 | ENSG00000081248 | 0 | 0 | ENSG00000081248 | missense_variant | ENSG00000081248 | 23,040 | ENSG00000081248 | 23,040 | 23,040 | ENSG00000081248 | missense_variant | NA | NA | |
1 | 201,090,702 | G | A | false | distal | 49 | rs78298142 | 0.000129 | 0.10326 | 33.865 | intron_variant | dELS | ENSG00000081248 | 937 | ENSG00000081248 | 937 | 937 | ENSG00000081248 | dELS | ENSG00000081248 | 21,723 | ENSG00000081248 | 21,723 | 21,723 | ENSG00000081248 | distal | NA | NA | |
1 | 201,097,855 | T | C | false | distal | 15 | rs16847724 | 0.000932 | 0.1515 | 32.365 | intron_variant | dELS_flank | ENSG00000081248 | 3,833 | ENSG00000081248 | 3,833 | 3,833 | ENSG00000081248 | dELS_flank | ENSG00000081248 | 14,570 | ENSG00000081248 | 14,570 | 14,570 | ENSG00000081248 | distal | NA | NA | |
1 | 201,097,883 | G | A | false | distal | 15 | rs17454870 | 0.00088 | 0.15056 | 32.442 | intron_variant | dELS_flank | ENSG00000081248 | 3,861 | ENSG00000081248 | 3,861 | 3,861 | ENSG00000081248 | dELS_flank | ENSG00000081248 | 14,542 | ENSG00000081248 | 14,542 | 14,542 | ENSG00000081248 | distal | NA | NA | |
1 | 201,098,797 | C | T | false | distal | 51 | rs16847726 | 0.001805 | 0.15122 | 31.93 | intron_variant | dELS | ENSG00000081248 | 4,775 | ENSG00000081248 | 4,775 | 4,775 | ENSG00000081248 | dELS | ENSG00000081248 | 13,628 | ENSG00000081248 | 13,628 | 13,628 | ENSG00000081248 | distal | NA | NA | |
1 | 201,098,827 | C | G | false | distal | 51 | rs61353098 | 0.002114 | 0.1506 | 31.909 | intron_variant | dELS | ENSG00000081248 | 4,805 | ENSG00000081248 | 4,805 | 4,805 | ENSG00000081248 | dELS | ENSG00000081248 | 13,598 | ENSG00000081248 | 13,598 | 13,598 | ENSG00000081248 | distal | NA | NA | |
1 | 201,114,802 | A | G | false | missense_variant | 87 | rs2274236 | 0.000076 | 0.017717 | 13.251 | missense_variant | missense_variant | ENSG00000232237 | 0 | ENSG00000081248 | 2,375 | 0 | ENSG00000232237 | missense_variant | ENSG00000081248 | 2,350 | ENSG00000081248 | 2,375 | 2,350 | ENSG00000081248 | missense_variant | NA | NA | |
1 | 201,184,087 | C | A | false | distal | 4 | rs831761 | 0.000392 | 0.34195 | 62.751 | intergenic_variant | dELS_flank | ENSG00000163395 | 6,736 | ENSG00000163395 | 6,737 | 6,736 | ENSG00000163395 | dELS_flank | ENSG00000163395 | 6,736 | ENSG00000163395 | 6,737 | 6,736 | ENSG00000163395 | distal | NA | NA | |
1 | 201,311,521 | C | A | false | distal | 33 | rs832152 | 0.000421 | 0.21729 | 122.84 | intron_variant | dELS | ENSG00000081277 | 1,644 | ENSG00000081277 | 4,670 | 1,644 | ENSG00000081277 | dELS | ENSG00000081277 | 27,817 | ENSG00000081277 | 4,670 | 4,670 | ENSG00000081277 | distal | NA | NA | |
1 | 201,361,301 | T | C | false | missense_variant | 94 | rs3730238 | 0.000146 | 0.014358 | 50.467 | missense_variant | missense_variant | ENSG00000118194 | 0 | ENSG00000118194 | 0 | 0 | ENSG00000118194 | missense_variant | ENSG00000118194 | 11,952 | ENSG00000118194 | 55 | 55 | ENSG00000118194 | missense_variant | NA | NA | |
1 | 201,372,097 | C | T | false | missense_variant | 79 | rs45582534 | 0.000116 | 0.008869 | 15.656 | missense_variant | missense_variant | ENSG00000118194 | 47 | ENSG00000118194 | 0 | 0 | ENSG00000118194 | missense_variant | ENSG00000118194 | 1,156 | ENSG00000118194 | 1,167 | 1,156 | ENSG00000118194 | missense_variant | NA | NA | |
1 | 201,414,515 | A | C | false | splicing | 168 | rs2026594 | 0.00008 | 0.15577 | 26.757 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000159173 | 2 | ENSG00000282221 | 13,324 | 2 | ENSG00000159173 | splice_donor_region_variant | ENSG00000159173 | 7,202 | ENSG00000227048 | 14,459 | 7,202 | ENSG00000159173 | splicing | NA | splicing:b0 | |
1 | 201,468,704 | C | T | true | missense_variant | 108 | rs35383942 | 0.99562 | Balding_Type4 | 0.063122 | 23.145 | missense_variant | missense_variant | ENSG00000174307 | 0 | ENSG00000174307 | 122 | 0 | ENSG00000174307 | missense_variant | ENSG00000174307 | 483 | ENSG00000174307 | 122 | 122 | ENSG00000174307 | missense_variant | NA | NA |
1 | 201,494,095 | G | C | false | distal | 39 | rs668565 | 0.000143 | 0.035601 | 35.04 | intron_variant | dELS | ENSG00000159176 | 2,096 | ENSG00000159176 | 1,193 | 1,193 | ENSG00000159176 | dELS | ENSG00000159176 | 2,477 | ENSG00000159176 | 1,193 | 1,193 | ENSG00000159176 | distal | NA | NA | |
1 | 201,501,942 | C | T | false | distal | 155 | rs1256925 | 0.000104 | 0.06469 | 72.274 | intron_variant | TF | ENSG00000159176 | 4,681 | ENSG00000159176 | 4,679 | 4,679 | ENSG00000159176 | TF | ENSG00000159176 | 4,896 | ENSG00000159176 | 4,760 | 4,760 | ENSG00000159176 | distal | NA | NA | |
1 | 201,530,320 | A | T | false | non_coding_transcript_exon_variant | 118 | rs11576996 | 0.000447 | 0.4124 | 123.26 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000134369 | 8,806 | ENSG00000223396 | 0 | 0 | ENSG00000223396 | non_coding_transcript_exon_variant | ENSG00000134369 | 8,806 | ENSG00000223396 | 10,263 | 8,806 | ENSG00000134369 | non_coding_transcript_exon_variant | NA | NA | |
1 | 201,739,294 | G | A | false | tss_proximal | 143 | rs12026046 | 0.000685 | 0.40997 | 103.94 | intron_variant | pELS | ENSG00000134369 | 573 | ENSG00000134369 | 22 | 22 | ENSG00000134369 | tss_proximal | ENSG00000134369 | 573 | ENSG00000134369 | 22 | 22 | ENSG00000134369 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 201,955,597 | A | G | false | tss_proximal | 172 | rs144645970 | 0.000086 | 0.018295 | 14.671 | intron_variant | PLS_flank | ENSG00000134375 | 44 | ENSG00000134375 | 44 | 44 | ENSG00000134375 | tss_proximal | ENSG00000134375 | 93 | ENSG00000134375 | 86 | 86 | ENSG00000134375 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 202,004,437 | G | A | false | missense_variant | 88 | rs3820439 | 0.000509 | 0.27227 | 79.052 | missense_variant | missense_variant | ENSG00000176393 | 0 | ENSG00000176393 | 0 | 0 | ENSG00000176393 | missense_variant | ENSG00000163435 | 3,507 | ENSG00000275207 | 1,312 | 1,312 | ENSG00000275207 | missense_variant | NA | NA | |
1 | 202,010,143 | G | A | false | 5_prime_UTR_variant | 125 | rs76198885 | 0.000082 | 0.011811 | 18.806 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000163435 | 0 | ENSG00000234678 | 0 | 0 | ENSG00000163435 | 5_prime_UTR_variant | ENSG00000163435 | 443 | ENSG00000234678 | 319 | 319 | ENSG00000234678 | 5_prime_UTR_variant | NA | NA | |
1 | 202,010,327 | G | A | true | 5_prime_UTR_variant | 129 | rs3806357 | 0.99991 | eGFR,sCr | 0.074218 | 33.572 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000163435 | 0 | ENSG00000234678 | 0 | 0 | ENSG00000163435 | 5_prime_UTR_variant | ENSG00000163435 | 259 | ENSG00000234678 | 135 | 135 | ENSG00000234678 | 5_prime_UTR_variant | NA | NA |
1 | 202,042,876 | G | A | false | distal | 16 | rs545285070 | 0.000273 | 0.002097 | 4.6009 | intergenic_variant | dELS_flank | ENSG00000163435 | 25,692 | ENSG00000235811 | 2,941 | 2,941 | ENSG00000235811 | dELS_flank | ENSG00000163435 | 32,231 | ENSG00000235811 | 3,024 | 3,024 | ENSG00000235811 | distal | NA | NA | |
1 | 202,161,992 | G | A | false | tss_proximal | 137 | rs149105458 | 0.000141 | 0.02229 | 43.406 | upstream_gene_variant | PLS_flank | ENSG00000143851 | 403 | ENSG00000143851 | 1,376 | 403 | ENSG00000143851 | tss_proximal | ENSG00000143851 | 403 | ENSG00000143851 | 1,376 | 403 | ENSG00000143851 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 202,205,988 | A | C | false | distal | 57 | rs66575408 | 0.001546 | 0.13728 | 53.646 | intron_variant | dELS | ENSG00000133067 | 2,112 | ENSG00000133067 | 2,112 | 2,112 | ENSG00000133067 | dELS | ENSG00000133067 | 2,251 | ENSG00000133067 | 2,210 | 2,210 | ENSG00000133067 | distal | NA | NA | |
1 | 202,376,861 | C | T | false | distal | 58 | rs142054280 | 0.00146 | 0.003033 | 14.639 | intron_variant | dELS | ENSG00000077157 | 27,718 | ENSG00000229120 | 6,715 | 6,715 | ENSG00000229120 | dELS | ENSG00000077157 | 28,132 | ENSG00000229120 | 6,715 | 6,715 | ENSG00000229120 | distal | NA | NA | |
1 | 202,376,901 | C | A | false | distal | 58 | rs140380755 | 0.000109 | 0.003712 | 10.607 | intron_variant | dELS | ENSG00000077157 | 27,758 | ENSG00000229120 | 6,755 | 6,755 | ENSG00000229120 | dELS | ENSG00000077157 | 28,172 | ENSG00000229120 | 6,755 | 6,755 | ENSG00000229120 | distal | NA | NA | |
1 | 202,741,605 | C | G | false | missense_variant | 99 | rs112284833 | 0.000141 | 0.033534 | 44.665 | missense_variant | missense_variant | ENSG00000117139 | 0 | ENSG00000117139 | 0 | 0 | ENSG00000117139 | missense_variant | ENSG00000117139 | 11,889 | ENSG00000117139 | 1,698 | 1,698 | ENSG00000117139 | missense_variant | NA | NA | |
1 | 202,749,460 | T | C | false | distal | 55 | rs7519619 | 0.00166 | 0.14298 | 122.42 | intron_variant | dELS | ENSG00000117139 | 320 | ENSG00000117139 | 320 | 320 | ENSG00000117139 | dELS | ENSG00000117139 | 5,909 | ENSG00000117139 | 1,241 | 1,241 | ENSG00000117139 | distal | NA | NA | |
1 | 202,765,130 | T | C | false | non_coding_transcript_exon_variant | 120 | rs7553366 | 0.001527 | 0.22565 | 154.9 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000117139 | 984 | ENSG00000117139 | 0 | 0 | ENSG00000117139 | non_coding_transcript_exon_variant | ENSG00000117139 | 9,759 | ENSG00000117139 | 2,078 | 2,078 | ENSG00000117139 | non_coding_transcript_exon_variant | NA | NA | |
1 | 202,807,819 | G | A | false | tss_proximal | 136 | rs577871165 | 0.000152 | 0.014542 | 100.84 | intron_variant | pELS | ENSG00000117139 | 282 | ENSG00000117139 | 143 | 143 | ENSG00000117139 | tss_proximal | ENSG00000117139 | 294 | ENSG00000117139 | 229 | 229 | ENSG00000117139 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 202,905,602 | C | T | false | distal | 62 | rs6686801 | 0.000083 | 0.39102 | 123.12 | intron_variant | dELS | ENSG00000117153 | 3,407 | ENSG00000230280 | 6,209 | 3,407 | ENSG00000117153 | dELS | ENSG00000117153 | 3,558 | ENSG00000230280 | 6,209 | 3,558 | ENSG00000117153 | distal | NA | NA | |
1 | 202,905,658 | T | C | false | distal | 62 | rs4950889 | 0.000092 | 0.39087 | 123.1 | intron_variant | dELS | ENSG00000117153 | 3,351 | ENSG00000230280 | 6,153 | 3,351 | ENSG00000117153 | dELS | ENSG00000117153 | 3,502 | ENSG00000230280 | 6,153 | 3,502 | ENSG00000117153 | distal | NA | NA | |
1 | 203,029,256 | T | C | false | distal | 67 | rs782790 | 0.000525 | 0.4387 | 42.748 | intron_variant | dELS | ENSG00000143847 | 2,626 | ENSG00000143847 | 2,626 | 2,626 | ENSG00000143847 | dELS | ENSG00000143847 | 2,757 | ENSG00000143847 | 2,764 | 2,757 | ENSG00000143847 | distal | NA | NA | |
1 | 203,069,381 | G | A | false | distal | 11 | rs1874143 | 0.000196 | 0.37357 | 60.613 | intron_variant | dELS_flank | ENSG00000143847 | 752 | ENSG00000143847 | 752 | 752 | ENSG00000143847 | dELS_flank | ENSG00000143847 | 15,634 | ENSG00000143847 | 1,935 | 1,935 | ENSG00000143847 | distal | NA | NA | |
1 | 203,207,759 | C | A | false | distal | 42 | rs2494303 | 0.00112 | 0.20423 | 42.403 | intergenic_variant | dELS | ENSG00000133063 | 8,319 | ENSG00000133063 | 5,067 | 5,067 | ENSG00000133063 | dELS | ENSG00000133048 | 21,054 | ENSG00000133063 | 10,261 | 10,261 | ENSG00000133063 | distal | NA | NA | |
1 | 203,259,480 | C | T | false | distal | 22 | rs577325718 | 0.000066 | 0.004332 | 6.1331 | intron_variant | dELS_flank | ENSG00000133063 | 29,806 | ENSG00000133063 | 1,321 | 1,321 | ENSG00000133063 | dELS_flank | ENSG00000133063 | 29,806 | ENSG00000133063 | 1,381 | 1,381 | ENSG00000133063 | distal | NA | NA | |
1 | 203,277,832 | A | G | false | distal | 16 | rs540285946 | 0.000259 | 0.002349 | 4.9017 | intron_variant | dELS_flank | ENSG00000159388 | 27,686 | ENSG00000231507 | 3,016 | 3,016 | ENSG00000231507 | dELS_flank | ENSG00000159388 | 27,686 | ENSG00000231507 | 3,655 | 3,655 | ENSG00000231507 | distal | NA | NA | |
1 | 203,307,870 | C | G | false | 3_prime_UTR_variant | 135 | rs12063729 | 0.001172 | 0.05045 | 38 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000159388 | 0 | ENSG00000159388 | 181 | 0 | ENSG00000159388 | 3_prime_UTR_variant | ENSG00000159388 | 2,350 | ENSG00000159388 | 2,378 | 2,350 | ENSG00000159388 | 3_prime_UTR_variant | NA | NA | |
1 | 203,307,925 | G | A | false | 3_prime_UTR_variant | 135 | rs12085417 | 0.001173 | 0.050451 | 38 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000159388 | 0 | ENSG00000159388 | 236 | 0 | ENSG00000159388 | 3_prime_UTR_variant | ENSG00000159388 | 2,405 | ENSG00000159388 | 2,433 | 2,405 | ENSG00000159388 | 3_prime_UTR_variant | NA | NA | |
1 | 203,312,047 | G | C | true | distal | 63 | rs17534202 | 1 | MCH,MCV,RBC | 0.46446 | 45.369 | intergenic_variant | dELS | ENSG00000159388 | 2,444 | ENSG00000159388 | 2,477 | 2,444 | ENSG00000159388 | dELS | ENSG00000159388 | 6,527 | ENSG00000159388 | 6,555 | 6,527 | ENSG00000159388 | distal | NA | NA |
1 | 203,332,667 | C | T | true | distal | 162 | rs6671900 | 0.993595 | MCHC | 0.17392 | 17.693 | intergenic_variant | intergenic_variant | ENSG00000122176 | 7,960 | ENSG00000122176 | 8,669 | 7,960 | ENSG00000122176 | intergenic_variant | ENSG00000122176 | 18,454 | ENSG00000202300 | 13,567 | 13,567 | ENSG00000202300 | distal | NA | NA |
1 | 203,629,093 | C | G | false | distal | 29 | rs4951273 | 0.003171 | 0.27733 | 44.139 | intron_variant | dELS | ENSG00000058668 | 1,873 | ENSG00000236035 | 27,875 | 1,873 | ENSG00000058668 | dELS | ENSG00000058668 | 2,260 | ENSG00000236035 | 28,666 | 2,260 | ENSG00000058668 | distal | NA | NA | |
1 | 203,674,145 | A | G | false | distal | 34 | rs12118835 | 0.000259 | 0.3307 | 21.202 | intron_variant | dELS | ENSG00000058668 | 8,596 | ENSG00000236035 | 16,384 | 8,596 | ENSG00000058668 | dELS | ENSG00000058668 | 8,663 | ENSG00000236035 | 16,384 | 8,663 | ENSG00000058668 | distal | NA | NA | |
1 | 203,768,908 | C | T | false | tss_proximal | 181 | rs67072942 | 0.000338 | 0.18354 | 138.88 | intron_variant | dELS | ENSG00000122188 | 1,919 | ENSG00000122188 | 729 | 729 | ENSG00000122188 | tss_proximal | ENSG00000122188 | 3,724 | ENSG00000122188 | 729 | 729 | ENSG00000122188 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 203,870,145 | C | T | false | 3_prime_UTR_variant | 132 | rs2298870 | 0.000068 | 0.22988 | 176.85 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000182004 | 0 | ENSG00000182004 | 60 | 0 | ENSG00000182004 | 3_prime_UTR_variant | ENSG00000182004 | 6,519 | ENSG00000236430 | 4,041 | 4,041 | ENSG00000236430 | 3_prime_UTR_variant | NA | NA | |
1 | 203,996,272 | C | T | true | tss_proximal | 180 | rs78448052 | 0.98923 | Balding_Type4 | 0.031201 | 25.864 | upstream_gene_variant | pELS | ENSG00000143842 | 76,842 | ENSG00000286383 | 259 | 259 | ENSG00000286383 | tss_proximal | ENSG00000143842 | 76,842 | ENSG00000286383 | 259 | 259 | ENSG00000286383 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
1 | 203,997,427 | G | A | false | tss_proximal | 180 | rs72747828 | 0.000978 | 0.036251 | 25.871 | intron_variant | pELS | ENSG00000143842 | 75,687 | ENSG00000286383 | 584 | 584 | ENSG00000286383 | tss_proximal | ENSG00000143842 | 75,687 | ENSG00000286383 | 646 | 646 | ENSG00000286383 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 204,113,195 | C | T | false | tss_proximal | 190 | rs760312 | 0.002008 | 0.46632 | 41.541 | intron_variant | pELS | ENSG00000143842 | 60 | ENSG00000143842 | 60 | 60 | ENSG00000143842 | tss_proximal | ENSG00000143842 | 278 | ENSG00000143842 | 2,869 | 278 | ENSG00000143842 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
1 | 204,141,053 | T | C | false | 5_prime_UTR_variant | 128 | rs372473238 | 0.00005 | 0.001417 | 4.53 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000143845 | 0 | ENSG00000143845 | 261 | 0 | ENSG00000143845 | 5_prime_UTR_variant | ENSG00000143845 | 208 | ENSG00000230550 | 350 | 208 | ENSG00000143845 | 5_prime_UTR_variant | NA | NA | |
1 | 204,147,111 | T | C | false | tss_proximal | 136 | rs72747898 | 0.000067 | 0.015322 | 13.607 | intron_variant | dELS | ENSG00000143845 | 150 | ENSG00000143845 | 120 | 120 | ENSG00000143845 | tss_proximal | ENSG00000143845 | 150 | ENSG00000143845 | 120 | 120 | ENSG00000143845 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 204,198,270 | C | T | false | 3_prime_UTR_variant | 133 | rs72749749 | 0.00024 | 0.095061 | 51.912 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000174567 | 0 | ENSG00000174567 | 671 | 0 | ENSG00000174567 | 3_prime_UTR_variant | ENSG00000170498 | 1,778 | ENSG00000174567 | 3,430 | 1,778 | ENSG00000170498 | 3_prime_UTR_variant | NA | NA | |
1 | 204,198,339 | T | C | true | 3_prime_UTR_variant | 135 | rs11576112 | 0.987035 | SHBG | 0.05158 | 18.276 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000174567 | 0 | ENSG00000174567 | 602 | 0 | ENSG00000174567 | 3_prime_UTR_variant | ENSG00000170498 | 1,847 | ENSG00000174567 | 3,361 | 1,847 | ENSG00000170498 | 3_prime_UTR_variant | NA | NA |
1 | 204,198,814 | A | G | false | distal | 55 | rs67875197 | 0.001392 | 0.14369 | 56.841 | intron_variant | dELS | ENSG00000174567 | 317 | ENSG00000174567 | 127 | 127 | ENSG00000174567 | dELS | ENSG00000170498 | 2,322 | ENSG00000174567 | 2,886 | 2,322 | ENSG00000170498 | distal | NA | NA | |
1 | 204,411,276 | C | T | false | missense_variant | 104 | rs149785262 | 0.000139 | 0.0036 | 13.945 | missense_variant | missense_variant | ENSG00000158615 | 0 | ENSG00000158615 | 0 | 0 | ENSG00000158615 | missense_variant | ENSG00000158615 | 313 | ENSG00000288934 | 88 | 88 | ENSG00000288934 | missense_variant | NA | NA |
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