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 | 54,654,029 | T | C | false | missense_variant | 94 | rs189525766 | 0.000031 | 0.019099 | 22.852 | missense_variant | missense_variant | ENSG00000184313 | 0 | ENSG00000271723 | 0 | 0 | ENSG00000184313 | missense_variant | ENSG00000184313 | 12,206 | ENSG00000184313 | 57 | 57 | ENSG00000184313 | missense_variant | NA | NA | |
1 | 54,736,972 | C | G | false | non_coding_transcript_exon_variant | 117 | rs7521828 | 0.000029 | 0.04929 | 192.34 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000243725 | 609 | ENSG00000243725 | 0 | 0 | ENSG00000243725 | non_coding_transcript_exon_variant | ENSG00000243725 | 21,110 | ENSG00000243725 | 282 | 282 | ENSG00000243725 | non_coding_transcript_exon_variant | NA | NA | |
1 | 54,737,117 | G | A | false | non_coding_transcript_exon_variant | 117 | rs7543886 | 0.000029 | 0.04929 | 192.34 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000243725 | 464 | ENSG00000243725 | 0 | 0 | ENSG00000243725 | non_coding_transcript_exon_variant | ENSG00000243725 | 21,255 | ENSG00000243725 | 427 | 427 | ENSG00000243725 | non_coding_transcript_exon_variant | NA | NA | |
1 | 54,752,070 | G | A | false | distal | 130 | rs12031137 | 0.000025 | 0.36761 | 54.831 | intergenic_variant | CA | ENSG00000162396 | 4,827 | ENSG00000271723 | 9,761 | 4,827 | ENSG00000162396 | CA | ENSG00000162396 | 12,452 | ENSG00000243725 | 15,380 | 12,452 | ENSG00000162396 | distal | NA | NA | |
1 | 54,774,259 | A | T | false | distal | 162 | rs12045167 | 0.000034 | 0.1831 | 48.375 | intergenic_variant | intergenic_variant | ENSG00000006555 | 5,452 | ENSG00000006555 | 7,336 | 5,452 | ENSG00000006555 | intergenic_variant | ENSG00000162396 | 9,735 | ENSG00000006555 | 13,645 | 9,735 | ENSG00000162396 | distal | NA | NA | |
1 | 54,784,806 | C | T | false | missense_variant | 93 | rs78948067 | 0.000247 | 0.14992 | 88 | missense_variant | missense_variant | ENSG00000006555 | 0 | ENSG00000006555 | 1,176 | 0 | ENSG00000006555 | missense_variant | ENSG00000006555 | 2,985 | ENSG00000006555 | 3,098 | 2,985 | ENSG00000006555 | missense_variant | NA | NA | |
1 | 54,977,846 | C | A | false | non_coding_transcript_exon_variant | 120 | rs2433672 | 0.000031 | 0.22236 | 80.769 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000143001 | 2,781 | ENSG00000284601 | 0 | 0 | ENSG00000284601 | non_coding_transcript_exon_variant | ENSG00000143001 | 2,781 | ENSG00000284601 | 2,605 | 2,605 | ENSG00000284601 | non_coding_transcript_exon_variant | NA | NA | |
1 | 55,039,974 | G | T | true | missense_variant | 82 | rs11591147 | 1 | ApoA,ApoB,CAD,LDLC,TC | 0.017642 | 13.095 | missense_variant | missense_variant | ENSG00000169174 | 0 | ENSG00000169174 | 0 | 0 | ENSG00000169174 | missense_variant | ENSG00000169174 | 320 | ENSG00000169174 | 526 | 320 | ENSG00000169174 | missense_variant | NA | NA |
1 | 55,049,808 | C | T | false | distal | 43 | rs7543163 | 0.000067 | 0.3853 | 46.887 | intron_variant | dELS | ENSG00000169174 | 2,469 | ENSG00000169174 | 1,125 | 1,125 | ENSG00000169174 | dELS | ENSG00000169174 | 9,512 | ENSG00000169174 | 1,125 | 1,125 | ENSG00000169174 | distal | NA | NA | |
1 | 55,053,079 | C | T | true | distal | 11 | rs7552841 | 1 | ApoB | 0.37639 | 39.42 | intron_variant | dELS_flank | ENSG00000169174 | 287 | ENSG00000169174 | 287 | 287 | ENSG00000169174 | dELS_flank | ENSG00000169174 | 12,783 | ENSG00000169174 | 2,144 | 2,144 | ENSG00000169174 | distal | NA | NA |
1 | 55,053,501 | G | A | true | distal | 43 | rs499883 | 1 | ApoB | 0.38525 | 89.354 | intron_variant | dELS | ENSG00000169174 | 709 | ENSG00000169174 | 709 | 709 | ENSG00000169174 | dELS | ENSG00000169174 | 13,205 | ENSG00000169174 | 2,566 | 2,566 | ENSG00000169174 | distal | NA | NA |
1 | 55,061,650 | G | A | false | distal | 8 | rs630431 | 0.001302 | 0.29843 | 158.09 | intron_variant | dELS_flank | ENSG00000169174 | 93 | ENSG00000169174 | 93 | 93 | ENSG00000169174 | dELS_flank | ENSG00000162402 | 13,848 | ENSG00000169174 | 3,533 | 3,533 | ENSG00000169174 | distal | NA | NA | |
1 | 55,087,537 | A | T | false | distal | 39 | rs77333170 | 0.000047 | 0.036165 | 105.94 | intron_variant | dELS | ENSG00000162402 | 1,498 | ENSG00000162402 | 1,102 | 1,102 | ENSG00000162402 | dELS | ENSG00000162402 | 12,037 | ENSG00000162402 | 1,102 | 1,102 | ENSG00000162402 | distal | NA | NA | |
1 | 55,208,131 | A | G | false | distal | 25 | rs2454214 | 0.001216 | 0.23553 | 189.95 | intron_variant | dELS_flank | ENSG00000162402 | 6,658 | ENSG00000231090 | 9,513 | 6,658 | ENSG00000162402 | dELS_flank | ENSG00000162402 | 7,232 | ENSG00000231090 | 9,513 | 7,232 | ENSG00000162402 | distal | NA | NA | |
1 | 55,208,155 | A | G | false | distal | 25 | rs2454215 | 0.001211 | 0.23553 | 189.95 | intron_variant | dELS_flank | ENSG00000162402 | 6,634 | ENSG00000231090 | 9,489 | 6,634 | ENSG00000162402 | dELS_flank | ENSG00000162402 | 7,208 | ENSG00000231090 | 9,489 | 7,208 | ENSG00000162402 | distal | NA | NA | |
1 | 55,232,461 | C | T | true | distal | 44 | rs570635280 | 0.999995 | ApoB,LDLC | 0.00145 | 6.8618 | intron_variant | dELS | ENSG00000162402 | 17,096 | ENSG00000231090 | 1,150 | 1,150 | ENSG00000231090 | dELS | ENSG00000162402 | 17,096 | ENSG00000265822 | 6,819 | 6,819 | ENSG00000265822 | distal | NA | NA |
1 | 55,233,052 | A | C | false | distal | 44 | rs553533923 | 0.000038 | 0.001052 | 7.844 | intron_variant | dELS | ENSG00000162402 | 17,687 | ENSG00000231090 | 559 | 559 | ENSG00000231090 | dELS | ENSG00000162402 | 17,687 | ENSG00000265822 | 7,410 | 7,410 | ENSG00000265822 | distal | NA | NA | |
1 | 56,001,323 | G | T | false | distal | 46 | rs11206713 | 0.000039 | 0.46857 | 286.49 | intron_variant | dELS | ENSG00000162407 | 493,437 | ENSG00000234810 | 16,400 | 16,400 | ENSG00000234810 | dELS | ENSG00000162407 | 578,239 | ENSG00000233079 | 56,235 | 56,235 | ENSG00000233079 | distal | NA | NA | |
1 | 56,002,631 | G | A | false | distal | 46 | rs11206714 | 0.000083 | 0.43219 | 264.04 | intron_variant | dELS | ENSG00000162407 | 492,129 | ENSG00000234810 | 15,092 | 15,092 | ENSG00000234810 | dELS | ENSG00000162407 | 576,931 | ENSG00000233079 | 57,543 | 57,543 | ENSG00000233079 | distal | NA | NA | |
1 | 56,173,789 | G | A | false | non_coding_transcript_exon_variant | 123 | rs72675574 | 0.008572 | 0.19331 | 228.28 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000162407 | 320,971 | ENSG00000260971 | 0 | 0 | ENSG00000260971 | non_coding_transcript_exon_variant | ENSG00000162407 | 405,773 | ENSG00000260971 | 12 | 12 | ENSG00000260971 | non_coding_transcript_exon_variant | NA | NA | |
1 | 56,405,392 | C | T | false | distal | 23 | rs10888969 | 0.000083 | 0.45689 | 75.076 | intron_variant | dELS_flank | ENSG00000162407 | 89,368 | ENSG00000284686 | 5,124 | 5,124 | ENSG00000284686 | dELS_flank | ENSG00000162407 | 174,170 | ENSG00000223956 | 9,525 | 9,525 | ENSG00000223956 | distal | NA | NA | |
1 | 56,405,627 | G | A | false | distal | 23 | rs12129444 | 0.000061 | 0.45686 | 74.924 | intron_variant | dELS_flank | ENSG00000162407 | 89,133 | ENSG00000284686 | 5,359 | 5,359 | ENSG00000284686 | dELS_flank | ENSG00000162407 | 173,935 | ENSG00000223956 | 9,290 | 9,290 | ENSG00000223956 | distal | NA | NA | |
1 | 56,405,634 | G | A | false | distal | 23 | rs12129445 | 0.000063 | 0.45638 | 75.145 | intron_variant | dELS_flank | ENSG00000162407 | 89,126 | ENSG00000284686 | 5,366 | 5,366 | ENSG00000284686 | dELS_flank | ENSG00000162407 | 173,928 | ENSG00000223956 | 9,283 | 9,283 | ENSG00000223956 | distal | NA | NA | |
1 | 56,406,685 | C | T | false | distal | 23 | rs2991265 | 0.000676 | 0.46171 | 49.164 | intron_variant | dELS_flank | ENSG00000162407 | 88,075 | ENSG00000284686 | 6,417 | 6,417 | ENSG00000284686 | dELS_flank | ENSG00000162407 | 172,877 | ENSG00000223956 | 8,232 | 8,232 | ENSG00000223956 | distal | NA | NA | |
1 | 56,617,713 | A | T | false | distal | 22 | rs372421855 | 0.000342 | 0.004028 | 10.18 | intron_variant | dELS_flank | ENSG00000162409 | 27,600 | ENSG00000225475 | 1,695 | 1,695 | ENSG00000225475 | dELS_flank | ENSG00000162409 | 27,600 | ENSG00000225475 | 1,835 | 1,835 | ENSG00000225475 | distal | NA | NA | |
1 | 56,744,022 | T | C | false | splicing | 168 | rs1156845 | 0.000082 | 0.13616 | 26.28 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000187889 | 3 | ENSG00000187889 | 3 | 3 | ENSG00000187889 | splice_donor_region_variant | ENSG00000187889 | 75,381 | ENSG00000187889 | 6,374 | 6,374 | ENSG00000187889 | splicing | NA | splicing:b0 | |
1 | 56,819,276 | C | G | false | splicing | 169 | rs372333474 | 0.000136 | 0.000213 | 4.3945 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000187889 | 5 | ENSG00000187889 | 5 | 5 | ENSG00000187889 | splice_donor_region_variant | ENSG00000187889 | 127 | ENSG00000187889 | 419 | 127 | ENSG00000187889 | splicing | NA | splicing:b1 | |
1 | 56,819,284 | C | T | false | missense_variant | 110 | rs566036317 | 0.000039 | 0.001627 | 5.784 | missense_variant | missense_variant | ENSG00000187889 | 0 | ENSG00000187889 | 0 | 0 | ENSG00000187889 | missense_variant | ENSG00000187889 | 119 | ENSG00000187889 | 411 | 119 | ENSG00000187889 | missense_variant | NA | NA | |
1 | 56,819,948 | C | T | false | tss_proximal | 142 | rs7523601 | 0.00051 | 0.27942 | 36.145 | upstream_gene_variant | PLS_flank | ENSG00000187889 | 543 | ENSG00000187889 | 251 | 251 | ENSG00000187889 | tss_proximal | ENSG00000187889 | 543 | ENSG00000187889 | 251 | 251 | ENSG00000187889 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 57,644,216 | G | A | false | distal | 21 | rs11801131 | 0.000028 | 0.28961 | 107.2 | intron_variant | dELS_flank | ENSG00000173406 | 220,155 | ENSG00000173406 | 5,375 | 5,375 | ENSG00000173406 | dELS_flank | ENSG00000173406 | 220,155 | ENSG00000236888 | 38,009 | 38,009 | ENSG00000236888 | distal | NA | NA | |
1 | 57,644,380 | T | C | false | distal | 21 | rs12125360 | 0.000027 | 0.28904 | 106.97 | intron_variant | dELS_flank | ENSG00000173406 | 220,319 | ENSG00000173406 | 5,211 | 5,211 | ENSG00000173406 | dELS_flank | ENSG00000173406 | 220,319 | ENSG00000236888 | 38,173 | 38,173 | ENSG00000236888 | distal | NA | NA | |
1 | 58,473,962 | G | A | false | missense_variant | 85 | rs12407003 | 0.000023 | 0.12433 | 52.444 | missense_variant | missense_variant | ENSG00000162600 | 0 | ENSG00000162600 | 6,915 | 0 | ENSG00000162600 | missense_variant | ENSG00000162600 | 64,855 | ENSG00000162600 | 32,236 | 32,236 | ENSG00000162600 | missense_variant | NA | NA | |
1 | 58,545,901 | C | A | false | tss_proximal | 142 | rs905567 | 0.000999 | 0.27803 | 275.38 | intron_variant | pELS | ENSG00000162600 | 733 | ENSG00000286918 | 266 | 266 | ENSG00000286918 | tss_proximal | ENSG00000162600 | 804 | ENSG00000286918 | 266 | 266 | ENSG00000286918 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 58,577,325 | C | T | false | tss_proximal | 173 | rs61779294 | 0.00022 | 0.095985 | 264.51 | upstream_gene_variant | PLS | ENSG00000184292 | 72 | ENSG00000264128 | 11,392 | 72 | ENSG00000184292 | tss_proximal | ENSG00000184292 | 72 | ENSG00000264128 | 11,392 | 72 | ENSG00000184292 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 58,682,254 | T | C | false | missense_variant | 101 | rs12139511 | 0.000267 | 0.40953 | 220.69 | missense_variant | missense_variant | ENSG00000162601 | 0 | ENSG00000162601 | 0 | 0 | ENSG00000162601 | missense_variant | ENSG00000162601 | 17,807 | ENSG00000162601 | 357 | 357 | ENSG00000162601 | missense_variant | NA | NA | |
1 | 58,698,045 | C | T | false | distal | 145 | rs6656503 | 0.000287 | 0.41889 | 218.69 | intron_variant | intron_variant | ENSG00000162601 | 1,939 | ENSG00000162601 | 1,939 | 1,939 | ENSG00000162601 | intron_variant | ENSG00000162601 | 2,016 | ENSG00000162601 | 2,006 | 2,006 | ENSG00000162601 | distal | NA | NA | |
1 | 58,852,911 | C | T | false | distal | 152 | rs61788403 | 0.000045 | 0.10943 | 61.92 | intron_variant | pELS | ENSG00000177606 | 68,863 | ENSG00000231740 | 1,656 | 1,656 | ENSG00000231740 | pELS | ENSG00000177606 | 68,863 | ENSG00000231740 | 1,656 | 1,656 | ENSG00000231740 | distal | NA | NA | |
1 | 58,927,284 | C | T | false | distal | 70 | rs76992013 | 0.000028 | 0.046727 | 16.477 | intron_variant | dELS | ENSG00000177606 | 143,236 | ENSG00000232453 | 2,770 | 2,770 | ENSG00000232453 | dELS | ENSG00000177606 | 143,236 | ENSG00000232453 | 2,881 | 2,881 | ENSG00000232453 | distal | NA | NA | |
1 | 59,128,853 | G | A | false | distal | 69 | rs7532988 | 0.00007 | 0.26633 | 42.988 | intron_variant | dELS | ENSG00000172456 | 167,784 | ENSG00000237352 | 1,790 | 1,790 | ENSG00000237352 | dELS | ENSG00000172456 | 167,784 | ENSG00000237352 | 3,619 | 3,619 | ENSG00000237352 | distal | NA | NA | |
1 | 59,135,580 | C | T | false | distal | 69 | rs17118843 | 0.000085 | 0.26668 | 43.015 | intron_variant | dELS | ENSG00000172456 | 161,057 | ENSG00000224609 | 2,249 | 2,249 | ENSG00000224609 | dELS | ENSG00000172456 | 161,057 | ENSG00000237352 | 3,106 | 3,106 | ENSG00000237352 | distal | NA | NA | |
1 | 59,500,817 | G | A | false | distal | 26 | rs10889141 | 0.000036 | 0.38501 | 98.786 | intron_variant | dELS | ENSG00000172456 | 11,493 | ENSG00000172456 | 11,493 | 11,493 | ENSG00000172456 | dELS | ENSG00000172456 | 53,100 | ENSG00000172456 | 11,498 | 11,498 | ENSG00000172456 | distal | NA | NA | |
1 | 59,640,779 | T | G | false | distal | 12 | rs79815959 | 0.000043 | 0.009137 | 17.355 | intron_variant | dELS_flank | ENSG00000172456 | 500 | ENSG00000172456 | 500 | 500 | ENSG00000172456 | dELS_flank | ENSG00000172456 | 86,860 | ENSG00000172456 | 2,550 | 2,550 | ENSG00000172456 | distal | NA | NA | |
1 | 59,659,922 | T | G | false | tss_proximal | 166 | rs7542885 | 0.000035 | 0.009303 | 96.888 | intron_variant | dELS_flank | ENSG00000172456 | 296 | ENSG00000172456 | 296 | 296 | ENSG00000172456 | tss_proximal | ENSG00000172456 | 106,003 | ENSG00000172456 | 296 | 296 | ENSG00000172456 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 59,660,512 | A | C | false | tss_proximal | 166 | rs78037436 | 0.000034 | 0.009094 | 95.361 | intron_variant | dELS_flank | ENSG00000172456 | 218 | ENSG00000172456 | 88 | 88 | ENSG00000172456 | tss_proximal | ENSG00000172456 | 106,593 | ENSG00000172456 | 292 | 292 | ENSG00000172456 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 59,660,691 | A | G | false | tss_proximal | 166 | rs75862375 | 0.000034 | 0.009094 | 95.361 | intron_variant | dELS_flank | ENSG00000172456 | 397 | ENSG00000172456 | 267 | 267 | ENSG00000172456 | tss_proximal | ENSG00000172456 | 106,772 | ENSG00000172456 | 471 | 471 | ENSG00000172456 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 59,660,962 | G | T | false | tss_proximal | 166 | rs55909807 | 0.000088 | 0.01676 | 37.21 | intron_variant | intron_variant | ENSG00000172456 | 668 | ENSG00000172456 | 538 | 538 | ENSG00000172456 | tss_proximal | ENSG00000172456 | 107,043 | ENSG00000172456 | 742 | 742 | ENSG00000172456 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 59,660,988 | T | C | false | tss_proximal | 166 | rs74086291 | 0.000033 | 0.009333 | 96.786 | intron_variant | intron_variant | ENSG00000172456 | 694 | ENSG00000172456 | 564 | 564 | ENSG00000172456 | tss_proximal | ENSG00000172456 | 107,069 | ENSG00000172456 | 768 | 768 | ENSG00000172456 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 59,757,788 | A | G | false | distal | 3 | rs590704 | 0.000045 | 0.2896 | 31.614 | intron_variant | dELS_flank | ENSG00000172456 | 142 | ENSG00000172456 | 142 | 142 | ENSG00000172456 | dELS_flank | ENSG00000134709 | 56,997 | ENSG00000172456 | 2,115 | 2,115 | ENSG00000172456 | distal | NA | NA | |
1 | 60,874,389 | G | A | false | distal | 9 | rs554359 | 0.000115 | 0.0593 | 49.367 | intron_variant | dELS_flank | ENSG00000162599 | 8,922 | ENSG00000231252 | 6,379 | 6,379 | ENSG00000231252 | dELS_flank | ENSG00000162599 | 9,129 | ENSG00000231252 | 6,379 | 6,379 | ENSG00000231252 | distal | NA | NA | |
1 | 61,226,289 | G | A | false | distal | 47 | rs77900620 | 0.000048 | 0.006059 | 6.3876 | intron_variant | dELS | ENSG00000162599 | 8,438 | ENSG00000237853 | 22,655 | 8,438 | ENSG00000162599 | dELS | ENSG00000162599 | 22,765 | ENSG00000237853 | 27,194 | 22,765 | ENSG00000162599 | distal | NA | NA | |
1 | 61,294,189 | C | T | false | distal | 35 | rs1932004 | 0.004754 | 0.4153 | 53.629 | intron_variant | dELS | ENSG00000162599 | 16,603 | ENSG00000162599 | 16,603 | 16,603 | ENSG00000162599 | dELS | ENSG00000162599 | 19,010 | ENSG00000162599 | 16,882 | 16,882 | ENSG00000162599 | distal | NA | NA | |
1 | 61,294,992 | C | T | false | distal | 35 | rs2806429 | 0.002028 | 0.4252 | 55.358 | intron_variant | dELS | ENSG00000162599 | 17,406 | ENSG00000162599 | 17,406 | 17,406 | ENSG00000162599 | dELS | ENSG00000162599 | 19,813 | ENSG00000162599 | 17,685 | 17,685 | ENSG00000162599 | distal | NA | NA | |
1 | 61,328,484 | C | T | false | missense_variant | 85 | rs71641728 | 0.000332 | 0.059861 | 34.075 | missense_variant | missense_variant | ENSG00000162599 | 0 | ENSG00000162599 | 4,027 | 0 | ENSG00000162599 | missense_variant | ENSG00000162599 | 53,305 | ENSG00000162599 | 51,177 | 51,177 | ENSG00000162599 | missense_variant | NA | NA | |
1 | 61,724,350 | C | A | false | missense_variant | 102 | rs142192673 | 0.000049 | 0.012702 | 7.7106 | missense_variant | missense_variant | ENSG00000162604 | 563 | ENSG00000162604 | 0 | 0 | ENSG00000162604 | missense_variant | ENSG00000162604 | 782 | ENSG00000162604 | 699 | 699 | ENSG00000162604 | missense_variant | NA | NA | |
1 | 61,791,364 | A | C | false | missense_variant | 107 | rs1286823 | 0.000045 | 0.11861 | 25.481 | missense_variant | missense_variant | ENSG00000132849 | 0 | ENSG00000132849 | 0 | 0 | ENSG00000132849 | missense_variant | ENSG00000132849 | 48,883 | ENSG00000132849 | 14,145 | 14,145 | ENSG00000132849 | missense_variant | NA | NA | |
1 | 61,816,017 | C | G | false | tss_proximal | 179 | rs76303082 | 0.000084 | 0.14607 | 38.978 | intron_variant | pELS_flank | ENSG00000132849 | 6,927 | ENSG00000200575 | 401 | 401 | ENSG00000200575 | tss_proximal | ENSG00000132849 | 73,536 | ENSG00000200575 | 401 | 401 | ENSG00000200575 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 62,017,951 | A | G | true | splicing | 168 | rs41313250 | 1 | BFP,BW | 0.12045 | 68.184 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000132849 | 3 | ENSG00000132849 | 3 | 3 | ENSG00000132849 | splice_donor_region_variant | ENSG00000132849 | 65,638 | ENSG00000236646 | 20,890 | 20,890 | ENSG00000236646 | splicing | NA | splicing:b0 |
1 | 62,026,232 | G | A | false | distal | 26 | rs7537873 | 0.000184 | 0.3874 | 126.75 | intron_variant | dELS | ENSG00000132849 | 8,284 | ENSG00000132849 | 8,284 | 8,284 | ENSG00000132849 | dELS | ENSG00000132849 | 73,919 | ENSG00000236646 | 12,609 | 12,609 | ENSG00000236646 | distal | NA | NA | |
1 | 62,114,219 | G | T | true | missense_variant | 83 | rs12140153 | 1 | ALT,BFP,BMI,BW,Morning_Person | 0.095976 | 65.813 | missense_variant | missense_variant | ENSG00000132849 | 0 | ENSG00000132849 | 0 | 0 | ENSG00000132849 | missense_variant | ENSG00000132849 | 128 | ENSG00000132849 | 6,654 | 128 | ENSG00000132849 | missense_variant | NA | NA |
1 | 62,151,316 | C | T | false | distal | 171 | rs2481673 | 0.00013 | 0.36936 | 152.83 | intron_variant | CA-CTCF_flank | ENSG00000132849 | 2,041 | ENSG00000132849 | 2,041 | 2,041 | ENSG00000132849 | CA-CTCF_flank | ENSG00000132849 | 37,225 | ENSG00000132849 | 30,441 | 30,441 | ENSG00000132849 | distal | NA | NA | |
1 | 62,152,255 | C | T | false | distal | 171 | rs2481675 | 0.000281 | 0.34847 | 151.19 | intron_variant | CA-CTCF_flank | ENSG00000132849 | 1,102 | ENSG00000132849 | 1,102 | 1,102 | ENSG00000132849 | CA-CTCF_flank | ENSG00000132849 | 38,164 | ENSG00000132849 | 31,380 | 31,380 | ENSG00000132849 | distal | NA | NA | |
1 | 62,155,417 | C | T | false | distal | 171 | rs2457821 | 0.000257 | 0.34868 | 151.33 | intron_variant | CA-CTCF_flank | ENSG00000132849 | 1,935 | ENSG00000132849 | 1,935 | 1,935 | ENSG00000132849 | CA-CTCF_flank | ENSG00000240563 | 39,431 | ENSG00000234204 | 33,713 | 33,713 | ENSG00000234204 | distal | NA | NA | |
1 | 62,183,475 | C | T | false | distal | 9 | rs74343325 | 0.000049 | 0.061368 | 143.03 | intergenic_variant | dELS_flank | ENSG00000132849 | 4,799 | ENSG00000234204 | 5,655 | 4,799 | ENSG00000132849 | dELS_flank | ENSG00000240563 | 11,373 | ENSG00000234204 | 5,655 | 5,655 | ENSG00000234204 | distal | NA | NA | |
1 | 62,207,217 | A | G | false | missense_variant | 78 | rs142530179 | 0.000058 | 0.013982 | 21.286 | missense_variant | missense_variant | ENSG00000240563 | 0 | ENSG00000237227 | 918 | 0 | ENSG00000240563 | missense_variant | ENSG00000240563 | 12,367 | ENSG00000237227 | 1,224 | 1,224 | ENSG00000237227 | missense_variant | NA | NA | |
1 | 62,540,080 | C | A | false | distal | 6 | rs56115463 | 0.000161 | 0.13325 | 155.53 | intron_variant | dELS_flank | ENSG00000116641 | 187 | ENSG00000116641 | 187 | 187 | ENSG00000116641 | dELS_flank | ENSG00000116641 | 12,680 | ENSG00000270549 | 9,443 | 9,443 | ENSG00000270549 | distal | NA | NA | |
1 | 62,598,067 | T | C | true | splicing | 169 | rs372257803 | 1 | ApoA,LDLC,TC,TG | 0.000779 | 7.7417 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000132855 | 5 | ENSG00000116641 | 525 | 5 | ENSG00000132855 | splice_donor_region_variant | ENSG00000132855 | 546 | ENSG00000132855 | 2,966 | 546 | ENSG00000132855 | splicing | NA | splicing:b1 |
1 | 63,261,569 | T | G | false | non_coding_transcript_exon_variant | 119 | rs7554136 | 0.000118 | 0.052145 | 112.41 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000187140 | 60,997 | ENSG00000224209 | 0 | 0 | ENSG00000224209 | non_coding_transcript_exon_variant | ENSG00000187140 | 60,997 | ENSG00000224209 | 234 | 234 | ENSG00000224209 | non_coding_transcript_exon_variant | NA | NA | |
1 | 63,261,871 | T | C | true | non_coding_transcript_exon_variant | 119 | rs670318 | 0.999825 | Height | 0.04905 | 26.762 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000187140 | 60,695 | ENSG00000224209 | 0 | 0 | ENSG00000224209 | non_coding_transcript_exon_variant | ENSG00000187140 | 60,695 | ENSG00000224209 | 66 | 66 | ENSG00000224209 | non_coding_transcript_exon_variant | NA | NA |
1 | 63,329,144 | A | G | false | distal | 151 | rs72676118 | 0.000021 | 0.10116 | 44.432 | intergenic_variant | pELS | ENSG00000187140 | 4,015 | ENSG00000275836 | 2,159 | 2,159 | ENSG00000275836 | pELS | ENSG00000187140 | 6,576 | ENSG00000275836 | 2,159 | 2,159 | ENSG00000275836 | distal | NA | NA | |
1 | 63,453,630 | A | G | false | non_coding_transcript_exon_variant | 122 | rs41285378 | 0.000077 | 0.004748 | 12.728 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000142856 | 287 | ENSG00000142856 | 0 | 0 | ENSG00000142856 | non_coding_transcript_exon_variant | ENSG00000142856 | 69,563 | ENSG00000142856 | 1,318 | 1,318 | ENSG00000142856 | non_coding_transcript_exon_variant | NA | NA | |
1 | 63,534,220 | T | C | false | splicing | 168 | rs6657559 | 0.000168 | 0.14336 | 275.66 | splice_donor_region_variant | splice_donor_region_variant | ENSG00000203965 | 3 | ENSG00000203965 | 0 | 0 | ENSG00000203965 | splice_donor_region_variant | ENSG00000203965 | 10,694 | ENSG00000203965 | 86 | 86 | ENSG00000203965 | splicing | NA | splicing:b0 | |
1 | 63,631,761 | C | T | false | missense_variant | 114 | rs1126728 | 0.002611 | 0.22841 | 15.046 | missense_variant | missense_variant | ENSG00000079739 | 0 | ENSG00000079739 | 19,593 | 0 | ENSG00000079739 | missense_variant | ENSG00000079739 | 8,667 | ENSG00000079739 | 19,593 | 8,667 | ENSG00000079739 | missense_variant | NA | NA | |
1 | 63,636,443 | A | G | false | distal | 34 | rs2269248 | 0.000187 | 0.32841 | 17.878 | intron_variant | dELS | ENSG00000079739 | 54 | ENSG00000079739 | 14,911 | 54 | ENSG00000079739 | dELS | ENSG00000079739 | 13,349 | ENSG00000079739 | 14,911 | 13,349 | ENSG00000079739 | distal | NA | NA | |
1 | 63,773,053 | C | A | false | tss_proximal | 138 | rs589465 | 0.000364 | 0.21635 | 136.2 | upstream_gene_variant | pELS | ENSG00000185483 | 963 | ENSG00000185483 | 2,236 | 963 | ENSG00000185483 | tss_proximal | ENSG00000185483 | 963 | ENSG00000185483 | 2,236 | 963 | ENSG00000185483 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 64,223,798 | G | A | false | distal | 28 | rs1541063 | 0.000402 | 0.24048 | 178.5 | intron_variant | dELS | ENSG00000177414 | 2,890 | ENSG00000177414 | 2,890 | 2,890 | ENSG00000177414 | dELS | ENSG00000177414 | 2,933 | ENSG00000177414 | 8,344 | 2,933 | ENSG00000177414 | distal | NA | NA | |
1 | 64,486,769 | C | T | false | distal | 17 | rs57712220 | 0.000054 | 0.009623 | 22.699 | intron_variant | dELS_flank | ENSG00000158966 | 15,826 | ENSG00000158966 | 19,145 | 15,826 | ENSG00000158966 | dELS_flank | ENSG00000158966 | 15,975 | ENSG00000158966 | 19,145 | 15,975 | ENSG00000158966 | distal | NA | NA | |
1 | 64,838,205 | T | C | true | distal | 12 | rs79649323 | 0.979785 | Eosino | 0.015263 | 12.981 | intron_variant | dELS_flank | ENSG00000162434 | 100 | ENSG00000162434 | 100 | 100 | ENSG00000162434 | dELS_flank | ENSG00000162437 | 93,109 | ENSG00000162434 | 3,052 | 3,052 | ENSG00000162434 | distal | NA | NA |
1 | 64,839,141 | G | A | false | distal | 12 | rs150355017 | 0.000044 | 0.01901 | 26.426 | intron_variant | dELS_flank | ENSG00000162434 | 461 | ENSG00000162434 | 354 | 354 | ENSG00000162434 | dELS_flank | ENSG00000162437 | 94,045 | ENSG00000162434 | 2,116 | 2,116 | ENSG00000162434 | distal | NA | NA | |
1 | 64,848,529 | C | A | true | tss_proximal | 166 | rs114269697 | 0.996295 | Eosino | 0.013542 | 19.246 | intron_variant | dELS_flank | ENSG00000162434 | 853 | ENSG00000162434 | 364 | 364 | ENSG00000162434 | tss_proximal | ENSG00000162437 | 103,433 | ENSG00000162434 | 364 | 364 | ENSG00000162434 | tss_proximal | tss_prox:b2 | tss_prox:b1 |
1 | 64,867,700 | A | T | false | distal | 12 | rs61784702 | 0.000061 | 0.01232 | 21.032 | intron_variant | dELS_flank | ENSG00000162434 | 491 | ENSG00000162434 | 164 | 164 | ENSG00000162434 | dELS_flank | ENSG00000162434 | 98,583 | ENSG00000162434 | 1,707 | 1,707 | ENSG00000162434 | distal | NA | NA | |
1 | 64,986,889 | A | C | false | tss_proximal | 175 | rs114037813 | 0.000537 | 0.046381 | 120.45 | intron_variant | pELS_flank | ENSG00000162434 | 2,545 | ENSG00000226891 | 373 | 373 | ENSG00000226891 | tss_proximal | ENSG00000162434 | 19,952 | ENSG00000185031 | 801 | 801 | ENSG00000185031 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 65,148,471 | T | A | false | missense_variant | 102 | rs17853973 | 0.000098 | 0.012752 | 35.718 | missense_variant | missense_variant | ENSG00000162433 | 0 | ENSG00000162433 | 0 | 0 | ENSG00000162433 | missense_variant | ENSG00000162433 | 267 | ENSG00000162433 | 530 | 267 | ENSG00000162433 | missense_variant | NA | NA | |
1 | 65,516,705 | G | A | true | distal | 146 | rs35660507 | 0.998835 | Age_at_Menarche | 0.024817 | 31.246 | intron_variant | intron_variant | ENSG00000116678 | 8,983 | ENSG00000116678 | 8,983 | 8,983 | ENSG00000116678 | intron_variant | ENSG00000116678 | 8,983 | ENSG00000116678 | 8,983 | 8,983 | ENSG00000116678 | distal | NA | NA |
1 | 65,516,957 | G | A | false | distal | 146 | rs113407624 | 0.001004 | 0.024723 | 55.852 | intron_variant | intron_variant | ENSG00000116678 | 8,731 | ENSG00000116678 | 8,731 | 8,731 | ENSG00000116678 | intron_variant | ENSG00000116678 | 8,731 | ENSG00000116678 | 8,731 | 8,731 | ENSG00000116678 | distal | NA | NA | |
1 | 65,517,016 | A | C | false | distal | 146 | rs111291360 | 0.000844 | 0.02475 | 55.808 | intron_variant | intron_variant | ENSG00000116678 | 8,672 | ENSG00000116678 | 8,672 | 8,672 | ENSG00000116678 | intron_variant | ENSG00000116678 | 8,672 | ENSG00000116678 | 8,672 | 8,672 | ENSG00000116678 | distal | NA | NA | |
1 | 65,603,337 | G | A | false | distal | 170 | rs6665672 | 0.000432 | 0.17203 | 297.87 | intron_variant | CA-CTCF_flank | ENSG00000116678 | 1,376 | ENSG00000116678 | 1,376 | 1,376 | ENSG00000116678 | CA-CTCF_flank | ENSG00000116678 | 37,790 | ENSG00000116678 | 16,602 | 16,602 | ENSG00000116678 | distal | NA | NA | |
1 | 65,604,098 | A | G | true | distal | 170 | rs72683129 | 0.999535 | CRP | 0.14951 | 142.19 | intron_variant | CA-CTCF_flank | ENSG00000116678 | 939 | ENSG00000116678 | 939 | 939 | ENSG00000116678 | CA-CTCF_flank | ENSG00000116678 | 38,551 | ENSG00000116678 | 15,841 | 15,841 | ENSG00000116678 | distal | NA | NA |
1 | 66,002,266 | T | C | false | distal | 146 | rs6670419 | 0.000048 | 0.024445 | 84.465 | intron_variant | intron_variant | ENSG00000184588 | 9,123 | ENSG00000184588 | 9,123 | 9,123 | ENSG00000184588 | intron_variant | ENSG00000184588 | 9,843 | ENSG00000184588 | 9,529 | 9,529 | ENSG00000184588 | distal | NA | NA | |
1 | 66,197,533 | C | T | false | distal | 5 | rs4655824 | 0.000045 | 0.059657 | 78.55 | intron_variant | dELS_flank | ENSG00000184588 | 45,000 | ENSG00000184588 | 49,926 | 45,000 | ENSG00000184588 | dELS_flank | ENSG00000184588 | 45,142 | ENSG00000184588 | 59,831 | 45,142 | ENSG00000184588 | distal | NA | NA | |
1 | 66,247,513 | C | G | false | missense_variant | 73 | rs75398902 | 0.000701 | 0.019629 | 93.982 | missense_variant | missense_variant | ENSG00000184588 | 0 | ENSG00000184588 | 0 | 0 | ENSG00000184588 | missense_variant | ENSG00000184588 | 10,133 | ENSG00000184588 | 9,851 | 9,851 | ENSG00000184588 | missense_variant | NA | NA | |
1 | 66,711,711 | G | C | false | tss_proximal | 182 | rs77395636 | 0.000145 | 0.011858 | 25.321 | intron_variant | dELS | ENSG00000118473 | 7,582 | ENSG00000118473 | 473 | 473 | ENSG00000118473 | tss_proximal | ENSG00000118473 | 29,416 | ENSG00000118473 | 473 | 473 | ENSG00000118473 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 66,751,140 | T | A | false | distal | 163 | rs1280310 | 0.002709 | 0.42461 | 269.18 | downstream_gene_variant | pELS_flank | ENSG00000118473 | 0 | ENSG00000152760 | 1,318 | 0 | ENSG00000118473 | pELS_flank | ENSG00000152760 | 1,318 | ENSG00000152760 | 1,318 | 1,318 | ENSG00000152760 | distal | NA | NA | |
1 | 66,906,222 | A | T | false | tss_proximal | 140 | rs3008891 | 0.006144 | 0.059368 | 127.05 | intron_variant | CA_flank | ENSG00000152763 | 698 | ENSG00000152763 | 846 | 698 | ENSG00000152763 | tss_proximal | ENSG00000152763 | 793 | ENSG00000152763 | 918 | 793 | ENSG00000152763 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 66,951,838 | T | C | false | distal | 30 | rs17129539 | 0.009456 | 0.057901 | 133.37 | intron_variant | dELS | ENSG00000198160 | 3,597 | ENSG00000198160 | 5,542 | 3,597 | ENSG00000198160 | dELS | ENSG00000198160 | 21,594 | ENSG00000198160 | 7,072 | 7,072 | ENSG00000198160 | distal | NA | NA | |
1 | 66,951,872 | G | T | false | distal | 30 | rs7555338 | 0.000043 | 0.059553 | 99.331 | intron_variant | dELS | ENSG00000198160 | 3,631 | ENSG00000198160 | 5,576 | 3,631 | ENSG00000198160 | dELS | ENSG00000198160 | 21,628 | ENSG00000198160 | 7,038 | 7,038 | ENSG00000198160 | distal | NA | NA | |
1 | 67,095,273 | C | T | false | missense_variant | 107 | rs11208997 | 0.000817 | 0.13219 | 158.67 | missense_variant | missense_variant | ENSG00000203963 | 0 | ENSG00000203963 | 0 | 0 | ENSG00000203963 | missense_variant | ENSG00000203963 | 31,987 | ENSG00000252433 | 7,505 | 7,505 | ENSG00000252433 | missense_variant | NA | NA | |
1 | 67,114,199 | A | C | false | distal | 6 | rs4655516 | 0.000567 | 0.13225 | 158.71 | intron_variant | dELS_flank | ENSG00000203963 | 1,152 | ENSG00000203963 | 442 | 442 | ENSG00000203963 | dELS_flank | ENSG00000203963 | 13,061 | ENSG00000275678 | 9,756 | 9,756 | ENSG00000275678 | distal | NA | NA | |
1 | 67,137,700 | A | C | false | distal | 163 | rs6588243 | 0.00017 | 0.426 | 129.95 | intron_variant | pELS_flank | ENSG00000162594 | 1,286 | ENSG00000162594 | 1,206 | 1,206 | ENSG00000162594 | pELS_flank | ENSG00000162594 | 1,286 | ENSG00000162594 | 1,206 | 1,206 | ENSG00000162594 | distal | NA | NA | |
1 | 67,219,704 | T | C | false | missense_variant | 107 | rs7530511 | 0.000081 | 0.12105 | 89.617 | missense_variant | missense_variant | ENSG00000162594 | 0 | ENSG00000162594 | 0 | 0 | ENSG00000162594 | missense_variant | ENSG00000162594 | 12,087 | ENSG00000162594 | 12,065 | 12,065 | ENSG00000162594 | missense_variant | NA | NA | |
1 | 67,301,243 | A | C | false | distal | 4 | rs11209042 | 0.000235 | 0.33744 | 56.679 | intergenic_variant | dELS_flank | ENSG00000081985 | 6,120 | ENSG00000081985 | 6,601 | 6,120 | ENSG00000081985 | dELS_flank | ENSG00000081985 | 6,120 | ENSG00000081985 | 6,601 | 6,120 | ENSG00000081985 | distal | NA | NA |
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