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 | 172,229,080 | G | A | false | distal | 71 | rs12063247 | 0.00672 | 0.21253 | 197.06 | intron_variant | dELS | ENSG00000197959 | 24,492 | ENSG00000287336 | 15,580 | 15,580 | ENSG00000287336 | dELS | ENSG00000180999 | 191,604 | ENSG00000287336 | 15,580 | 15,580 | ENSG00000287336 | distal | NA | NA | |
1 | 172,230,108 | T | A | false | distal | 71 | rs6701414 | 0.005849 | 0.21247 | 197.09 | intron_variant | dELS | ENSG00000197959 | 23,464 | ENSG00000287336 | 16,608 | 16,608 | ENSG00000287336 | dELS | ENSG00000180999 | 190,576 | ENSG00000287336 | 16,608 | 16,608 | ENSG00000287336 | distal | NA | NA | |
1 | 172,445,304 | G | A | false | tss_proximal | 137 | rs74126218 | 0.000096 | 0.023394 | 21.708 | intron_variant | pELS_flank | ENSG00000180999 | 145 | ENSG00000135845 | 1,220 | 145 | ENSG00000180999 | tss_proximal | ENSG00000180999 | 164 | ENSG00000135845 | 1,220 | 164 | ENSG00000180999 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 172,457,718 | A | G | false | distal | 28 | rs6689291 | 0.000737 | 0.22484 | 157.74 | intron_variant | dELS | ENSG00000180999 | 1,228 | ENSG00000180999 | 4,459 | 1,228 | ENSG00000180999 | dELS | ENSG00000180999 | 4,824 | ENSG00000180999 | 6,676 | 4,824 | ENSG00000180999 | distal | NA | NA | |
1 | 172,459,629 | G | C | false | distal | 28 | rs9425619 | 0.002606 | 0.22313 | 98.282 | intron_variant | dELS | ENSG00000180999 | 2,548 | ENSG00000180999 | 2,548 | 2,548 | ENSG00000180999 | dELS | ENSG00000180999 | 6,735 | ENSG00000180999 | 8,587 | 6,735 | ENSG00000180999 | distal | NA | NA | |
1 | 172,672,978 | C | T | false | distal | 31 | rs1492907 | 0.000436 | 0.30637 | 50.564 | intergenic_variant | dELS | ENSG00000117560 | 6,101 | ENSG00000251943 | 59,443 | 6,101 | ENSG00000117560 | dELS | ENSG00000117560 | 13,833 | ENSG00000251943 | 59,443 | 13,833 | ENSG00000117560 | distal | NA | NA | |
1 | 172,746,562 | A | G | true | distal | 152 | rs78037977 | 0.975375 | AG | 0.1246 | 70.963 | intergenic_variant | pELS | ENSG00000117560 | 79,685 | ENSG00000229785 | 1,997 | 1,997 | ENSG00000229785 | pELS | ENSG00000117560 | 87,417 | ENSG00000229785 | 1,997 | 1,997 | ENSG00000229785 | distal | NA | NA |
1 | 172,903,312 | A | T | false | distal | 70 | rs983514 | 0.000177 | 0.026069 | 87.305 | intron_variant | dELS | ENSG00000120337 | 135,889 | ENSG00000224000 | 3,587 | 3,587 | ENSG00000224000 | dELS | ENSG00000120337 | 147,628 | ENSG00000224000 | 3,587 | 3,587 | ENSG00000224000 | distal | NA | NA | |
1 | 172,909,247 | T | C | false | distal | 70 | rs12063352 | 0.000292 | 0.025336 | 84.751 | intron_variant | dELS | ENSG00000120337 | 129,954 | ENSG00000224000 | 1,562 | 1,562 | ENSG00000224000 | dELS | ENSG00000120337 | 141,693 | ENSG00000224000 | 2,346 | 2,346 | ENSG00000224000 | distal | NA | NA | |
1 | 172,909,282 | T | C | false | distal | 70 | rs12063378 | 0.000292 | 0.025336 | 84.752 | intron_variant | dELS | ENSG00000120337 | 129,919 | ENSG00000224000 | 1,597 | 1,597 | ENSG00000224000 | dELS | ENSG00000120337 | 141,658 | ENSG00000224000 | 2,381 | 2,381 | ENSG00000224000 | distal | NA | NA | |
1 | 173,106,490 | G | A | false | distal | 157 | rs6674831 | 0.000486 | 0.25147 | 75.723 | intergenic_variant | intergenic_variant | ENSG00000120337 | 55,548 | ENSG00000230849 | 34,609 | 34,609 | ENSG00000230849 | intergenic_variant | ENSG00000120337 | 55,548 | ENSG00000230849 | 35,859 | 35,859 | ENSG00000230849 | distal | NA | NA | |
1 | 173,174,847 | G | A | false | tss_proximal | 182 | rs140362239 | 0.000073 | 0.009702 | 14.357 | intron_variant | intron_variant | ENSG00000117586 | 8,883 | ENSG00000226375 | 241 | 241 | ENSG00000226375 | tss_proximal | ENSG00000117586 | 30,710 | ENSG00000226375 | 655 | 655 | ENSG00000226375 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 173,209,314 | A | G | false | distal | 151 | rs10489266 | 0.00009 | 0.098073 | 64.225 | intergenic_variant | pELS | ENSG00000117586 | 1,982 | ENSG00000117586 | 3,589 | 1,982 | ENSG00000117586 | pELS | ENSG00000117586 | 1,982 | ENSG00000117586 | 3,589 | 1,982 | ENSG00000117586 | distal | NA | NA | |
1 | 173,627,118 | A | T | false | missense_variant | 76 | rs12059066 | 0.000041 | 0.001637 | 375.99 | missense_variant | missense_variant | ENSG00000183831 | 0 | ENSG00000285777 | 0 | 0 | ENSG00000183831 | missense_variant | ENSG00000232113 | 8,219 | ENSG00000289426 | 10,594 | 8,219 | ENSG00000232113 | missense_variant | NA | NA | |
1 | 173,780,806 | T | C | false | distal | 3 | rs61827865 | 0.001752 | 0.2818 | 453.07 | intron_variant | dELS_flank | ENSG00000076321 | 1,317 | ENSG00000076321 | 1,106 | 1,106 | ENSG00000076321 | dELS_flank | ENSG00000120334 | 43,325 | ENSG00000076321 | 1,106 | 1,106 | ENSG00000076321 | distal | NA | NA | |
1 | 174,322,448 | C | T | false | distal | 61 | rs74128342 | 0.002904 | 0.031101 | 533.74 | intron_variant | dELS | ENSG00000152061 | 17,320 | ENSG00000152061 | 42,781 | 17,320 | ENSG00000152061 | dELS | ENSG00000152061 | 47,347 | ENSG00000152061 | 42,781 | 42,781 | ENSG00000152061 | distal | NA | NA | |
1 | 174,788,316 | T | C | false | distal | 29 | rs72717608 | 0.001028 | 0.25039 | 918.18 | intron_variant | dELS | ENSG00000152061 | 11,615 | ENSG00000152061 | 23,515 | 11,615 | ENSG00000152061 | dELS | ENSG00000152061 | 11,615 | ENSG00000223828 | 31,196 | 11,615 | ENSG00000152061 | distal | NA | NA | |
1 | 174,849,409 | A | G | false | tss_proximal | 176 | rs3018410 | 0.002021 | 0.46015 | 749.67 | intron_variant | pELS_flank | ENSG00000152061 | 25,048 | ENSG00000231378 | 257 | 257 | ENSG00000231378 | tss_proximal | ENSG00000152061 | 25,048 | ENSG00000231378 | 758 | 758 | ENSG00000231378 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 175,072,413 | A | G | false | distal | 29 | rs12730537 | 0.000031 | 0.2702 | 147.76 | intron_variant | dELS | ENSG00000120332 | 4,477 | ENSG00000181101 | 26,764 | 4,477 | ENSG00000120332 | dELS | ENSG00000120332 | 4,579 | ENSG00000181101 | 26,764 | 4,579 | ENSG00000120332 | distal | NA | NA | |
1 | 175,193,944 | C | G | false | tss_proximal | 177 | rs10798342 | 0.001332 | 0.42581 | 117.13 | upstream_gene_variant | pELS | ENSG00000235750 | 1,000 | ENSG00000235750 | 944 | 944 | ENSG00000235750 | tss_proximal | ENSG00000235750 | 1,000 | ENSG00000235750 | 944 | 944 | ENSG00000235750 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 175,889,776 | C | T | false | distal | 23 | rs2140169 | 0.000017 | 0.49868 | 66.819 | intergenic_variant | dELS_flank | ENSG00000143207 | 55,054 | ENSG00000224718 | 9,307 | 9,307 | ENSG00000224718 | dELS_flank | ENSG00000116147 | 146,159 | ENSG00000224718 | 12,432 | 12,432 | ENSG00000224718 | distal | NA | NA | |
1 | 176,220,827 | T | C | false | distal | 20 | rs143281449 | 0.001144 | 0.046131 | 296.48 | intron_variant | dELS_flank | ENSG00000143207 | 13,540 | ENSG00000236021 | 2,180 | 2,180 | ENSG00000236021 | dELS_flank | ENSG00000143207 | 13,540 | ENSG00000273629 | 3,285 | 3,285 | ENSG00000273629 | distal | NA | NA | |
1 | 176,532,419 | G | A | false | distal | 60 | rs138875022 | 0.000175 | 0.058073 | 55.226 | intron_variant | dELS | ENSG00000116183 | 22,987 | ENSG00000116183 | 4,883 | 4,883 | ENSG00000116183 | dELS | ENSG00000116183 | 69,243 | ENSG00000116183 | 4,883 | 4,883 | ENSG00000116183 | distal | NA | NA | |
1 | 176,532,695 | C | T | true | distal | 60 | rs77281709 | 0.99992 | IGF1 | 0.048353 | 63.589 | intron_variant | dELS | ENSG00000116183 | 22,711 | ENSG00000116183 | 4,607 | 4,607 | ENSG00000116183 | dELS | ENSG00000116183 | 69,519 | ENSG00000116183 | 4,607 | 4,607 | ENSG00000116183 | distal | NA | NA |
1 | 176,552,519 | G | A | true | tss_proximal | 178 | rs10913200 | 1 | Height,IGF1 | 0.028661 | 88.806 | intron_variant | dELS | ENSG00000116183 | 2,887 | ENSG00000116183 | 968 | 968 | ENSG00000116183 | tss_proximal | ENSG00000116183 | 89,343 | ENSG00000116183 | 968 | 968 | ENSG00000116183 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
1 | 176,553,229 | C | T | true | tss_proximal | 179 | rs12749024 | 1 | IGF1 | 0.15193 | 205.41 | intron_variant | dELS | ENSG00000116183 | 2,177 | ENSG00000116183 | 258 | 258 | ENSG00000116183 | tss_proximal | ENSG00000116183 | 90,053 | ENSG00000116183 | 258 | 258 | ENSG00000116183 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
1 | 176,594,643 | G | A | false | missense_variant | 112 | rs138546816 | 0.000726 | 0.005258 | 23.414 | missense_variant | missense_variant | ENSG00000116183 | 0 | ENSG00000237514 | 21,629 | 0 | ENSG00000116183 | missense_variant | ENSG00000116183 | 131,467 | ENSG00000237514 | 22,142 | 22,142 | ENSG00000237514 | missense_variant | NA | NA | |
1 | 176,594,844 | G | C | false | missense_variant | 112 | rs202065297 | 0.000053 | 0.003788 | 28.878 | missense_variant | missense_variant | ENSG00000116183 | 0 | ENSG00000237514 | 21,428 | 0 | ENSG00000116183 | missense_variant | ENSG00000116183 | 131,668 | ENSG00000237514 | 21,941 | 21,941 | ENSG00000237514 | missense_variant | NA | NA | |
1 | 176,595,064 | A | T | false | missense_variant | 112 | rs199988757 | 0.000012 | 0.000719 | 12.882 | missense_variant | missense_variant | ENSG00000116183 | 0 | ENSG00000237514 | 21,208 | 0 | ENSG00000116183 | missense_variant | ENSG00000116183 | 131,888 | ENSG00000237514 | 21,721 | 21,721 | ENSG00000237514 | missense_variant | NA | NA | |
1 | 176,596,876 | A | T | true | distal | 148 | rs77696550 | 0.99808 | BW | 0.079116 | 97.796 | intron_variant | intron_variant | ENSG00000116183 | 1,280 | ENSG00000237514 | 19,396 | 1,280 | ENSG00000116183 | intron_variant | ENSG00000116183 | 133,700 | ENSG00000237514 | 19,909 | 19,909 | ENSG00000237514 | distal | NA | NA |
1 | 177,105,801 | C | T | false | distal | 5 | rs17379781 | 0.001052 | 0.083132 | 69.837 | intron_variant | dELS_flank | ENSG00000152092 | 44,535 | ENSG00000152092 | 44,535 | 44,535 | ENSG00000152092 | dELS_flank | ENSG00000152092 | 58,881 | ENSG00000152092 | 59,171 | 58,881 | ENSG00000152092 | distal | NA | NA | |
1 | 177,207,076 | C | T | false | distal | 61 | rs12083725 | 0.000018 | 0.026067 | 83.683 | intron_variant | dELS | ENSG00000198797 | 22,724 | ENSG00000152092 | 42,102 | 22,724 | ENSG00000198797 | dELS | ENSG00000198797 | 36,117 | ENSG00000152092 | 42,102 | 36,117 | ENSG00000198797 | distal | NA | NA | |
1 | 177,944,267 | C | G | false | distal | 43 | rs10913468 | 0.000151 | 0.38553 | 79.631 | intron_variant | dELS | ENSG00000120341 | 293 | ENSG00000120341 | 291 | 291 | ENSG00000120341 | dELS | ENSG00000120341 | 14,635 | ENSG00000120341 | 4,376 | 4,376 | ENSG00000120341 | distal | NA | NA | |
1 | 178,231,625 | A | T | false | 5_prime_UTR_variant | 126 | rs10913520 | 0.00561 | 0.10936 | 332.12 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000075391 | 0 | ENSG00000270575 | 36,915 | 0 | ENSG00000075391 | 5_prime_UTR_variant | ENSG00000075391 | 1,314 | ENSG00000270575 | 36,915 | 1,314 | ENSG00000075391 | 5_prime_UTR_variant | NA | NA | |
1 | 178,514,096 | G | A | false | missense_variant | 92 | rs10913563 | 0.000051 | 0.41786 | 191.07 | missense_variant | missense_variant | ENSG00000240021 | 0 | ENSG00000240021 | 18 | 0 | ENSG00000240021 | missense_variant | ENSG00000240021 | 951 | ENSG00000240021 | 962 | 951 | ENSG00000240021 | missense_variant | NA | NA | |
1 | 178,514,733 | C | T | false | missense_variant | 79 | rs144999625 | 0.000027 | 0.006392 | 20.26 | missense_variant | missense_variant | ENSG00000240021 | 0 | ENSG00000240021 | 0 | 0 | ENSG00000240021 | missense_variant | ENSG00000240021 | 1,588 | ENSG00000240021 | 1,599 | 1,588 | ENSG00000240021 | missense_variant | NA | NA | |
1 | 178,677,749 | C | T | false | non_coding_transcript_exon_variant | 116 | rs56088671 | 0.000055 | 0.073271 | 162.82 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000116191 | 47,469 | ENSG00000266417 | 0 | 0 | ENSG00000266417 | non_coding_transcript_exon_variant | ENSG00000116191 | 47,469 | ENSG00000266417 | 0 | 0 | ENSG00000266417 | non_coding_transcript_exon_variant | NA | NA | |
1 | 178,740,831 | C | T | false | distal | 0 | rs4652319 | 0.002062 | 0.3188 | 168.57 | intron_variant | dELS_flank | ENSG00000116191 | 15,411 | ENSG00000228196 | 5,851 | 5,851 | ENSG00000228196 | dELS_flank | ENSG00000116191 | 15,434 | ENSG00000228196 | 6,922 | 6,922 | ENSG00000228196 | distal | NA | NA | |
1 | 179,032,305 | G | A | false | distal | 67 | rs7541793 | 0.000599 | 0.43216 | 234.85 | intron_variant | dELS | ENSG00000116199 | 6,206 | ENSG00000232750 | 3,003 | 3,003 | ENSG00000232750 | dELS | ENSG00000116199 | 6,410 | ENSG00000232750 | 3,346 | 3,346 | ENSG00000232750 | distal | NA | NA | |
1 | 179,037,327 | G | A | false | distal | 153 | rs6425513 | 0.000021 | 0.36528 | 302.85 | intron_variant | pELS | ENSG00000116199 | 6,387 | ENSG00000232750 | 1,674 | 1,674 | ENSG00000232750 | pELS | ENSG00000116199 | 11,432 | ENSG00000232750 | 1,674 | 1,674 | ENSG00000232750 | distal | NA | NA | |
1 | 179,041,472 | G | A | false | distal | 167 | rs11581232 | 0.000061 | 0.30712 | 342.23 | intron_variant | CA_flank | ENSG00000116199 | 2,242 | ENSG00000232750 | 5,819 | 2,242 | ENSG00000116199 | CA_flank | ENSG00000116199 | 15,577 | ENSG00000232750 | 5,819 | 5,819 | ENSG00000232750 | distal | NA | NA | |
1 | 179,049,648 | C | G | false | distal | 147 | rs4651011 | 0.001667 | 0.44257 | 240.24 | intron_variant | intron_variant | ENSG00000116199 | 630 | ENSG00000232750 | 13,995 | 630 | ENSG00000116199 | intron_variant | ENSG00000116199 | 23,753 | ENSG00000232750 | 13,995 | 13,995 | ENSG00000232750 | distal | NA | NA | |
1 | 179,049,884 | C | T | false | distal | 147 | rs4652349 | 0.001428 | 0.44114 | 239.04 | intron_variant | intron_variant | ENSG00000116199 | 394 | ENSG00000232750 | 14,231 | 394 | ENSG00000116199 | intron_variant | ENSG00000116199 | 23,989 | ENSG00000232750 | 14,231 | 14,231 | ENSG00000232750 | distal | NA | NA | |
1 | 179,051,053 | C | T | false | distal | 147 | rs35737572 | 0.000443 | 0.43719 | 233.51 | intron_variant | intron_variant | ENSG00000116199 | 687 | ENSG00000232750 | 15,400 | 687 | ENSG00000116199 | intron_variant | ENSG00000116199 | 25,158 | ENSG00000232750 | 15,400 | 15,400 | ENSG00000232750 | distal | NA | NA | |
1 | 179,082,165 | T | C | false | missense_variant | 111 | rs2296377 | 0.000054 | 0.30281 | 361.36 | missense_variant | missense_variant | ENSG00000186283 | 0 | ENSG00000186283 | 0 | 0 | ENSG00000186283 | missense_variant | ENSG00000186283 | 78 | ENSG00000186283 | 15 | 15 | ENSG00000186283 | missense_variant | NA | NA | |
1 | 179,358,823 | G | A | false | distal | 186 | rs12117333 | 0.00261 | 0.077351 | 269.55 | downstream_gene_variant | downstream_gene_variant | ENSG00000057252 | 142 | ENSG00000162779 | 6,902 | 142 | ENSG00000057252 | downstream_gene_variant | ENSG00000162779 | 6,896 | ENSG00000162779 | 6,902 | 6,896 | ENSG00000162779 | distal | NA | NA | |
1 | 179,358,923 | A | C | false | distal | 186 | rs75666748 | 0.00014 | 0.10692 | 363.25 | downstream_gene_variant | downstream_gene_variant | ENSG00000057252 | 242 | ENSG00000162779 | 6,802 | 242 | ENSG00000057252 | downstream_gene_variant | ENSG00000162779 | 6,796 | ENSG00000162779 | 6,802 | 6,796 | ENSG00000162779 | distal | NA | NA | |
1 | 179,359,110 | T | C | false | distal | 186 | rs12144580 | 0.002337 | 0.077235 | 269.62 | downstream_gene_variant | downstream_gene_variant | ENSG00000057252 | 429 | ENSG00000162779 | 6,615 | 429 | ENSG00000057252 | downstream_gene_variant | ENSG00000162779 | 6,609 | ENSG00000162779 | 6,615 | 6,609 | ENSG00000162779 | distal | NA | NA | |
1 | 179,359,412 | G | A | false | distal | 186 | rs61824395 | 0.002267 | 0.077234 | 269.63 | downstream_gene_variant | downstream_gene_variant | ENSG00000057252 | 731 | ENSG00000162779 | 6,313 | 731 | ENSG00000057252 | downstream_gene_variant | ENSG00000162779 | 6,307 | ENSG00000162779 | 6,313 | 6,307 | ENSG00000162779 | distal | NA | NA | |
1 | 179,395,256 | A | G | false | distal | 171 | rs61173288 | 0.000283 | 0.37504 | 547.94 | intron_variant | CA-CTCF_flank | ENSG00000162779 | 53 | ENSG00000162779 | 53 | 53 | ENSG00000162779 | CA-CTCF_flank | ENSG00000162779 | 26,354 | ENSG00000162779 | 29,278 | 26,354 | ENSG00000162779 | distal | NA | NA | |
1 | 179,590,497 | T | C | false | non_coding_transcript_exon_variant | 121 | rs10753199 | 0.000043 | 0.47555 | 520.17 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000162782 | 1,115 | ENSG00000261060 | 0 | 0 | ENSG00000261060 | non_coding_transcript_exon_variant | ENSG00000162782 | 1,115 | ENSG00000261060 | 124 | 124 | ENSG00000261060 | non_coding_transcript_exon_variant | NA | NA | |
1 | 179,745,246 | G | T | false | distal | 67 | rs2504039 | 0.00002 | 0.43737 | 201.68 | intron_variant | dELS | ENSG00000143340 | 1,822 | ENSG00000243062 | 2,548 | 1,822 | ENSG00000143340 | dELS | ENSG00000143340 | 1,954 | ENSG00000243062 | 3,236 | 1,954 | ENSG00000143340 | distal | NA | NA | |
1 | 179,754,062 | C | T | false | distal | 27 | rs17370084 | 0.000081 | 0.23488 | 228.79 | intron_variant | dELS | ENSG00000143340 | 10,638 | ENSG00000243062 | 11,364 | 10,638 | ENSG00000143340 | dELS | ENSG00000143340 | 10,770 | ENSG00000243062 | 12,052 | 10,770 | ENSG00000143340 | distal | NA | NA | |
1 | 179,954,976 | G | A | false | 5_prime_UTR_variant | 124 | rs78339243 | 0.000083 | 0.11831 | 324.43 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000135837 | 0 | ENSG00000260360 | 270 | 0 | ENSG00000135837 | 5_prime_UTR_variant | ENSG00000135837 | 165 | ENSG00000260360 | 270 | 165 | ENSG00000135837 | 5_prime_UTR_variant | NA | NA | |
1 | 180,004,873 | G | T | true | distal | 155 | rs12137828 | 0.99632 | RBC | 0.064019 | 133.17 | intron_variant | TF | ENSG00000135837 | 1,580 | ENSG00000223450 | 4,064 | 1,580 | ENSG00000135837 | TF | ENSG00000135837 | 18,690 | ENSG00000223450 | 4,064 | 4,064 | ENSG00000223450 | distal | NA | NA |
1 | 180,024,424 | C | T | false | missense_variant | 90 | rs139727510 | 0.000089 | 0.000302 | 3.3217 | missense_variant | missense_variant | ENSG00000135837 | 0 | ENSG00000135837 | 17,237 | 0 | ENSG00000135837 | missense_variant | ENSG00000135837 | 16,778 | ENSG00000135837 | 17,237 | 16,778 | ENSG00000135837 | missense_variant | NA | NA | |
1 | 180,041,776 | A | G | false | missense_variant | 108 | rs16855164 | 0.000028 | 0.061244 | 82.563 | missense_variant | missense_variant | ENSG00000135837 | 0 | ENSG00000135837 | 0 | 0 | ENSG00000135837 | missense_variant | ENSG00000135837 | 572 | ENSG00000135837 | 113 | 113 | ENSG00000135837 | missense_variant | NA | NA | |
1 | 180,081,017 | G | A | false | tss_proximal | 141 | rs55676403 | 0.000058 | 0.037688 | 141.31 | intron_variant | dELS_flank | ENSG00000135837 | 355 | ENSG00000135837 | 4,562 | 355 | ENSG00000135837 | tss_proximal | ENSG00000135837 | 499 | ENSG00000135837 | 4,562 | 499 | ENSG00000135837 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 180,124,079 | T | C | false | tss_proximal | 182 | rs113699994 | 0.001886 | 0.01357 | 132.89 | upstream_gene_variant | pELS | ENSG00000135837 | 9,203 | ENSG00000261817 | 188 | 188 | ENSG00000261817 | tss_proximal | ENSG00000135837 | 30,364 | ENSG00000261817 | 188 | 188 | ENSG00000261817 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 180,170,491 | C | T | false | distal | 15 | rs79466164 | 0.000472 | 0.15182 | 150.86 | intron_variant | dELS_flank | ENSG00000116260 | 3,899 | ENSG00000116260 | 3,899 | 3,899 | ENSG00000116260 | dELS_flank | ENSG00000116260 | 15,593 | ENSG00000116260 | 15,620 | 15,593 | ENSG00000116260 | distal | NA | NA | |
1 | 180,176,906 | G | A | false | distal | 49 | rs17371678 | 0.004484 | 0.095134 | 155.9 | intron_variant | dELS | ENSG00000116260 | 872 | ENSG00000116260 | 1,539 | 872 | ENSG00000116260 | dELS | ENSG00000116260 | 19,775 | ENSG00000116260 | 22,035 | 19,775 | ENSG00000116260 | distal | NA | NA | |
1 | 180,234,012 | G | A | false | distal | 67 | rs3856050 | 0.000148 | 0.433 | 101.85 | intron_variant | dELS | ENSG00000121454 | 3,406 | ENSG00000121454 | 3,406 | 3,406 | ENSG00000121454 | dELS | ENSG00000121454 | 3,747 | ENSG00000121454 | 3,713 | 3,713 | ENSG00000121454 | distal | NA | NA | |
1 | 180,244,117 | A | G | false | distal | 155 | rs61809129 | 0.000041 | 0.061387 | 44.053 | intron_variant | TF | ENSG00000121454 | 4,167 | ENSG00000121454 | 4,167 | 4,167 | ENSG00000121454 | TF | ENSG00000121454 | 13,852 | ENSG00000121454 | 4,167 | 4,167 | ENSG00000121454 | distal | NA | NA | |
1 | 180,251,188 | G | A | false | distal | 32 | rs357073 | 0.000032 | 0.098182 | 44.755 | intron_variant | dELS | ENSG00000121454 | 2,731 | ENSG00000121454 | 2,490 | 2,490 | ENSG00000121454 | dELS | ENSG00000121454 | 20,923 | ENSG00000121454 | 2,902 | 2,902 | ENSG00000121454 | distal | NA | NA | |
1 | 180,251,301 | G | A | false | distal | 32 | rs357072 | 0.00003 | 0.10003 | 44.433 | intron_variant | dELS | ENSG00000121454 | 2,844 | ENSG00000121454 | 2,603 | 2,603 | ENSG00000121454 | dELS | ENSG00000121454 | 21,036 | ENSG00000121454 | 3,015 | 3,015 | ENSG00000121454 | distal | NA | NA | |
1 | 180,548,628 | C | T | false | distal | 50 | rs7517902 | 0.000037 | 0.2654 | 256.26 | intron_variant | dELS | ENSG00000230124 | 45,673 | ENSG00000236719 | 1,138 | 1,138 | ENSG00000236719 | dELS | ENSG00000230124 | 45,673 | ENSG00000236719 | 1,191 | 1,191 | ENSG00000236719 | distal | NA | NA | |
1 | 180,550,560 | C | T | false | distal | 50 | rs12069581 | 0.000037 | 0.26535 | 256.09 | intron_variant | dELS | ENSG00000230124 | 47,605 | ENSG00000236719 | 2,188 | 2,188 | ENSG00000236719 | dELS | ENSG00000230124 | 47,605 | ENSG00000236719 | 2,188 | 2,188 | ENSG00000236719 | distal | NA | NA | |
1 | 180,782,595 | T | C | false | distal | 148 | rs72723026 | 0.000054 | 0.07283 | 142.3 | intron_variant | intron_variant | ENSG00000143324 | 5,157 | ENSG00000283575 | 23,777 | 5,157 | ENSG00000143324 | intron_variant | ENSG00000135835 | 130,301 | ENSG00000283575 | 23,872 | 23,872 | ENSG00000283575 | distal | NA | NA | |
1 | 180,854,094 | G | T | false | distal | 26 | rs6703189 | 0.000139 | 0.39442 | 207.24 | intron_variant | dELS | ENSG00000143324 | 9,613 | ENSG00000143324 | 9,613 | 9,613 | ENSG00000143324 | dELS | ENSG00000135835 | 58,802 | ENSG00000143324 | 9,669 | 9,669 | ENSG00000143324 | distal | NA | NA | |
1 | 180,936,558 | C | T | true | synonymous_variant | 187 | rs3795503 | 0.99952 | eGFR,sCr | 0.31563 | 52.435 | synonymous_variant | synonymous_variant | ENSG00000135835 | 0 | ENSG00000243155 | 7,483 | 0 | ENSG00000135835 | synonymous_variant | ENSG00000135835 | 4,634 | ENSG00000232586 | 18,328 | 4,634 | ENSG00000135835 | synonymous_variant | NA | NA |
1 | 180,950,890 | T | C | false | 3_prime_UTR_variant | 132 | rs3795502 | 0.000314 | 0.22627 | 54.211 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000135835 | 0 | ENSG00000232586 | 0 | 0 | ENSG00000135835 | 3_prime_UTR_variant | ENSG00000135835 | 9,696 | ENSG00000232586 | 3,996 | 3,996 | ENSG00000232586 | 3_prime_UTR_variant | NA | NA | |
1 | 180,951,041 | A | G | false | 3_prime_UTR_variant | 132 | rs3820314 | 0.000314 | 0.22612 | 54.154 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000135835 | 0 | ENSG00000232586 | 122 | 0 | ENSG00000135835 | 3_prime_UTR_variant | ENSG00000135835 | 9,847 | ENSG00000232586 | 3,845 | 3,845 | ENSG00000232586 | 3_prime_UTR_variant | NA | NA | |
1 | 180,966,839 | G | A | false | distal | 64 | rs12026811 | 0.000151 | 0.22259 | 51.7 | intron_variant | dELS | ENSG00000135823 | 5,872 | ENSG00000251520 | 929 | 929 | ENSG00000251520 | dELS | ENSG00000135835 | 25,645 | ENSG00000251520 | 2,327 | 2,327 | ENSG00000251520 | distal | NA | NA | |
1 | 181,108,155 | C | A | false | distal | 17 | rs6656640 | 0.000609 | 0.009911 | 21.39 | intergenic_variant | dELS_flank | ENSG00000162783 | 15,254 | ENSG00000289589 | 19,615 | 15,254 | ENSG00000162783 | dELS_flank | ENSG00000162783 | 19,454 | ENSG00000289589 | 19,615 | 19,454 | ENSG00000162783 | distal | NA | NA | |
1 | 181,172,848 | C | A | false | distal | 152 | rs3856082 | 0.000205 | 0.12385 | 39.561 | intergenic_variant | pELS | ENSG00000162783 | 79,947 | ENSG00000237292 | 1,635 | 1,635 | ENSG00000237292 | pELS | ENSG00000162783 | 84,147 | ENSG00000237292 | 1,635 | 1,635 | ENSG00000237292 | distal | NA | NA | |
1 | 181,747,765 | A | T | false | distal | 15 | rs17693196 | 0.000015 | 0.13739 | 101.8 | intron_variant | dELS_flank | ENSG00000198216 | 2,710 | ENSG00000198216 | 4,377 | 2,710 | ENSG00000198216 | dELS_flank | ENSG00000198216 | 15,298 | ENSG00000198216 | 15,198 | 15,198 | ENSG00000198216 | distal | NA | NA | |
1 | 181,748,464 | C | T | false | distal | 15 | rs7544827 | 0.000043 | 0.14286 | 107.69 | intron_variant | dELS_flank | ENSG00000198216 | 2,011 | ENSG00000198216 | 3,678 | 2,011 | ENSG00000198216 | dELS_flank | ENSG00000198216 | 15,997 | ENSG00000198216 | 15,897 | 15,897 | ENSG00000198216 | distal | NA | NA | |
1 | 181,793,624 | G | A | false | tss_proximal | 173 | rs75408623 | 0.000021 | 0.060622 | 59.168 | intron_variant | dELS | ENSG00000198216 | 40 | ENSG00000288574 | 15,302 | 40 | ENSG00000198216 | tss_proximal | ENSG00000198216 | 43 | ENSG00000288574 | 18,870 | 43 | ENSG00000198216 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 182,127,891 | G | A | false | non_coding_transcript_exon_variant | 119 | rs2236540 | 0.000033 | 0.04363 | 85.169 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000179930 | 66,178 | ENSG00000232309 | 0 | 0 | ENSG00000232309 | non_coding_transcript_exon_variant | ENSG00000179930 | 66,178 | ENSG00000232309 | 773 | 773 | ENSG00000232309 | non_coding_transcript_exon_variant | NA | NA | |
1 | 182,285,592 | A | G | false | distal | 53 | rs536256953 | 0.00016 | 0.026725 | 157.2 | intron_variant | dELS | ENSG00000135821 | 92,505 | ENSG00000228918 | 7,178 | 7,178 | ENSG00000228918 | dELS | ENSG00000135821 | 105,753 | ENSG00000228918 | 7,752 | 7,752 | ENSG00000228918 | distal | NA | NA | |
1 | 182,301,198 | C | T | false | distal | 53 | rs4072303 | 0.000188 | 0.04719 | 70.328 | intron_variant | dELS | ENSG00000135821 | 76,899 | ENSG00000228918 | 7,852 | 7,852 | ENSG00000228918 | dELS | ENSG00000135821 | 90,147 | ENSG00000228918 | 7,852 | 7,852 | ENSG00000228918 | distal | NA | NA | |
1 | 182,301,808 | G | A | false | distal | 53 | rs3895327 | 0.000182 | 0.047045 | 69.956 | intron_variant | dELS | ENSG00000135821 | 76,289 | ENSG00000228918 | 8,352 | 8,352 | ENSG00000228918 | dELS | ENSG00000135821 | 89,537 | ENSG00000228918 | 8,399 | 8,399 | ENSG00000228918 | distal | NA | NA | |
1 | 182,382,492 | T | A | false | 3_prime_UTR_variant | 132 | rs4517308 | 0.001878 | 0.22306 | 119.76 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000135821 | 0 | ENSG00000135821 | 401 | 0 | ENSG00000135821 | 3_prime_UTR_variant | ENSG00000135821 | 8,853 | ENSG00000135821 | 3,446 | 3,446 | ENSG00000135821 | 3_prime_UTR_variant | NA | NA | |
1 | 182,455,350 | G | A | false | distal | 145 | rs11586532 | 0.000099 | 0.41286 | 48.537 | intron_variant | intron_variant | ENSG00000121446 | 1,309 | ENSG00000121446 | 1,309 | 1,309 | ENSG00000121446 | intron_variant | ENSG00000121446 | 1,965 | ENSG00000121446 | 1,379 | 1,379 | ENSG00000121446 | distal | NA | NA | |
1 | 182,689,016 | T | C | false | distal | 34 | rs34194740 | 0.000535 | 0.33656 | 57.277 | intergenic_variant | dELS | ENSG00000135824 | 4,428 | ENSG00000135824 | 16,083 | 4,428 | ENSG00000135824 | dELS | ENSG00000135824 | 4,428 | ENSG00000135824 | 16,083 | 4,428 | ENSG00000135824 | distal | NA | NA | |
1 | 182,904,296 | C | T | false | missense_variant | 84 | rs12138972 | 0.000073 | 0.032212 | 53.932 | missense_variant | missense_variant | ENSG00000157060 | 0 | ENSG00000157060 | 0 | 0 | ENSG00000157060 | missense_variant | ENSG00000157060 | 48,869 | ENSG00000135829 | 23,010 | 23,010 | ENSG00000135829 | missense_variant | NA | NA | |
1 | 183,144,047 | C | G | false | 3_prime_UTR_variant | 134 | rs10911261 | 0.000887 | 0.043982 | 127.75 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000135862 | 0 | ENSG00000224468 | 2,764 | 0 | ENSG00000135862 | 3_prime_UTR_variant | ENSG00000058085 | 42,190 | ENSG00000224468 | 2,764 | 2,764 | ENSG00000224468 | 3_prime_UTR_variant | NA | NA | |
1 | 183,144,444 | A | G | false | 3_prime_UTR_variant | 134 | rs17477864 | 0.000056 | 0.049663 | 141.46 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000135862 | 0 | ENSG00000224468 | 3,161 | 0 | ENSG00000135862 | 3_prime_UTR_variant | ENSG00000058085 | 41,793 | ENSG00000224468 | 3,161 | 3,161 | ENSG00000224468 | 3_prime_UTR_variant | NA | NA | |
1 | 183,186,264 | A | G | false | 5_prime_UTR_variant | 126 | rs2276542 | 0.005794 | 0.1788 | 295.49 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000058085 | 0 | ENSG00000224468 | 44,981 | 0 | ENSG00000058085 | 5_prime_UTR_variant | ENSG00000058085 | 0 | ENSG00000224468 | 44,981 | 0 | ENSG00000058085 | 5_prime_UTR_variant | NA | NA | |
1 | 183,210,973 | C | T | false | distal | 48 | rs184032694 | 0.000024 | 0.005192 | 20.203 | intron_variant | dELS | ENSG00000058085 | 2,903 | ENSG00000058085 | 28,527 | 2,903 | ENSG00000058085 | dELS | ENSG00000058085 | 24,708 | ENSG00000058085 | 28,527 | 24,708 | ENSG00000058085 | distal | NA | NA | |
1 | 183,251,404 | T | C | false | 3_prime_UTR_variant | 134 | rs41304261 | 0.000122 | 0.037531 | 123.17 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000157064 | 0 | ENSG00000287929 | 858 | 0 | ENSG00000157064 | 3_prime_UTR_variant | ENSG00000157064 | 53,469 | ENSG00000287929 | 858 | 858 | ENSG00000287929 | 3_prime_UTR_variant | NA | NA | |
1 | 183,633,660 | A | G | false | non_coding_transcript_exon_variant | 121 | rs2254972 | 0.001591 | 0.46937 | 327.89 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000162704 | 496 | ENSG00000162704 | 0 | 0 | ENSG00000162704 | non_coding_transcript_exon_variant | ENSG00000162704 | 2,021 | ENSG00000162704 | 297 | 297 | ENSG00000162704 | non_coding_transcript_exon_variant | NA | NA | |
1 | 183,721,236 | G | A | false | distal | 26 | rs1926825 | 0.000107 | 0.37821 | 309.27 | intron_variant | dELS | ENSG00000143344 | 20,889 | ENSG00000270994 | 10,995 | 10,995 | ENSG00000270994 | dELS | ENSG00000173627 | 67,919 | ENSG00000270994 | 10,995 | 10,995 | ENSG00000270994 | distal | NA | NA | |
1 | 184,678,248 | T | C | false | distal | 160 | rs9425339 | 0.004215 | 0.42344 | 153.2 | intergenic_variant | intergenic_variant | ENSG00000116406 | 11,988 | ENSG00000285847 | 6,081 | 6,081 | ENSG00000285847 | intergenic_variant | ENSG00000116406 | 76,372 | ENSG00000285847 | 6,081 | 6,081 | ENSG00000285847 | distal | NA | NA | |
1 | 184,702,964 | G | A | true | missense_variant | 106 | rs78444298 | 0.999855 | Glucose,Height,eGFR,sCr | 0.019576 | 47.799 | missense_variant | missense_variant | ENSG00000116406 | 0 | ENSG00000116406 | 0 | 0 | ENSG00000116406 | missense_variant | ENSG00000116406 | 51,656 | ENSG00000116406 | 694 | 694 | ENSG00000116406 | missense_variant | NA | NA |
1 | 184,795,866 | G | A | false | missense_variant | 84 | rs12750174 | 0.000076 | 0.036709 | 73.615 | missense_variant | missense_variant | ENSG00000135842 | 0 | ENSG00000135842 | 0 | 0 | ENSG00000135842 | missense_variant | ENSG00000135842 | 10,118 | ENSG00000252222 | 25,622 | 10,118 | ENSG00000135842 | missense_variant | NA | NA | |
1 | 184,890,177 | C | T | false | missense_variant | 109 | rs140860927 | 0.000035 | 0.003008 | 16.136 | missense_variant | missense_variant | ENSG00000135842 | 0 | ENSG00000135842 | 0 | 0 | ENSG00000135842 | missense_variant | ENSG00000135842 | 84,191 | ENSG00000135842 | 7 | 7 | ENSG00000135842 | missense_variant | NA | NA | |
1 | 185,017,904 | C | T | false | distal | 16 | rs76511622 | 0.000024 | 0.00147 | 339.27 | intergenic_variant | dELS_flank | ENSG00000121481 | 27,621 | ENSG00000201312 | 2,836 | 2,836 | ENSG00000201312 | dELS_flank | ENSG00000121481 | 27,621 | ENSG00000201312 | 2,836 | 2,836 | ENSG00000201312 | distal | NA | NA | |
1 | 185,553,555 | A | C | false | distal | 21 | rs10798019 | 0.00002 | 0.23426 | 206.64 | intergenic_variant | dELS_flank | ENSG00000143341 | 180,835 | ENSG00000228309 | 4,815 | 4,815 | ENSG00000228309 | dELS_flank | ENSG00000143341 | 180,835 | ENSG00000279401 | 34,903 | 34,903 | ENSG00000279401 | distal | NA | NA | |
1 | 185,655,793 | G | A | false | tss_proximal | 180 | rs12734691 | 0.000028 | 0.033927 | 80.8 | intron_variant | intron_variant | ENSG00000143341 | 78,597 | ENSG00000261729 | 582 | 582 | ENSG00000261729 | tss_proximal | ENSG00000143341 | 78,597 | ENSG00000261729 | 790 | 790 | ENSG00000261729 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
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