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 | 218,705,477 | G | A | false | distal | 65 | rs35907690 | 0.000097 | 0.061083 | 88.847 | intergenic_variant | dELS | ENSG00000092969 | 260,857 | ENSG00000212610 | 163,577 | 163,577 | ENSG00000212610 | dELS | ENSG00000092969 | 359,241 | ENSG00000212610 | 163,577 | 163,577 | ENSG00000212610 | distal | NA | NA | |
1 | 218,706,373 | T | C | false | distal | 65 | rs114524119 | 0.000108 | 0.010367 | 23.9 | intergenic_variant | dELS | ENSG00000092969 | 261,753 | ENSG00000212610 | 164,473 | 164,473 | ENSG00000212610 | dELS | ENSG00000092969 | 360,137 | ENSG00000212610 | 164,473 | 164,473 | ENSG00000212610 | distal | NA | NA | |
1 | 218,706,441 | C | T | true | distal | 65 | rs72742475 | 1 | Height | 0.022104 | 16.255 | intergenic_variant | dELS | ENSG00000092969 | 261,821 | ENSG00000212610 | 164,541 | 164,541 | ENSG00000212610 | dELS | ENSG00000092969 | 360,205 | ENSG00000212610 | 164,541 | 164,541 | ENSG00000212610 | distal | NA | NA |
1 | 218,708,468 | C | A | false | distal | 65 | rs182535884 | 0.000122 | 0.005947 | 18.377 | intergenic_variant | dELS | ENSG00000092969 | 263,848 | ENSG00000212610 | 166,568 | 166,568 | ENSG00000212610 | dELS | ENSG00000092969 | 362,232 | ENSG00000212610 | 166,568 | 166,568 | ENSG00000212610 | distal | NA | NA | |
1 | 218,711,127 | A | T | false | distal | 65 | rs4846504 | 0.000024 | 0.00779 | 58.092 | intergenic_variant | dELS | ENSG00000092969 | 266,507 | ENSG00000212610 | 169,227 | 169,227 | ENSG00000212610 | dELS | ENSG00000092969 | 364,891 | ENSG00000212610 | 169,227 | 169,227 | ENSG00000212610 | distal | NA | NA | |
1 | 218,712,161 | A | G | false | distal | 65 | rs747451909 | 0.000012 | 0.001297 | 6.4924 | intergenic_variant | dELS | ENSG00000092969 | 267,541 | ENSG00000226693 | 169,438 | 169,438 | ENSG00000226693 | dELS | ENSG00000092969 | 365,925 | ENSG00000212610 | 170,261 | 170,261 | ENSG00000212610 | distal | NA | NA | |
1 | 218,716,154 | C | T | false | distal | 65 | rs189238277 | 0.000384 | 0.0098 | 33.044 | intergenic_variant | dELS | ENSG00000092969 | 271,534 | ENSG00000226693 | 165,445 | 165,445 | ENSG00000226693 | dELS | ENSG00000092969 | 369,918 | ENSG00000226693 | 166,495 | 166,495 | ENSG00000226693 | distal | NA | NA | |
1 | 218,719,061 | C | A | false | distal | 65 | rs28668279 | 0.000087 | 0.061015 | 89.413 | intergenic_variant | dELS | ENSG00000092969 | 274,441 | ENSG00000226693 | 162,538 | 162,538 | ENSG00000226693 | dELS | ENSG00000092969 | 372,825 | ENSG00000226693 | 163,588 | 163,588 | ENSG00000226693 | distal | NA | NA | |
1 | 218,719,128 | C | A | false | distal | 65 | rs28478494 | 0.000029 | 0.053339 | 94.579 | intergenic_variant | dELS | ENSG00000092969 | 274,508 | ENSG00000226693 | 162,471 | 162,471 | ENSG00000226693 | dELS | ENSG00000092969 | 372,892 | ENSG00000226693 | 163,521 | 163,521 | ENSG00000226693 | distal | NA | NA | |
1 | 218,970,256 | T | G | false | distal | 21 | rs629222 | 0.000094 | 0.29908 | 236.58 | intergenic_variant | dELS_flank | ENSG00000143353 | 203,618 | ENSG00000228063 | 6,415 | 6,415 | ENSG00000228063 | dELS_flank | ENSG00000143353 | 203,618 | ENSG00000225561 | 51,541 | 51,541 | ENSG00000225561 | distal | NA | NA | |
1 | 218,971,579 | A | C | false | distal | 21 | rs689378 | 0.00008 | 0.29963 | 237.49 | intergenic_variant | dELS_flank | ENSG00000143353 | 202,295 | ENSG00000228063 | 5,092 | 5,092 | ENSG00000228063 | dELS_flank | ENSG00000143353 | 202,295 | ENSG00000225561 | 52,864 | 52,864 | ENSG00000225561 | distal | NA | NA | |
1 | 219,121,218 | C | A | false | distal | 66 | rs537608548 | 0.000035 | 0.011122 | 31.071 | intron_variant | dELS | ENSG00000143353 | 52,656 | ENSG00000228063 | 15,168 | 15,168 | ENSG00000228063 | dELS | ENSG00000143353 | 52,656 | ENSG00000228063 | 52,274 | 52,274 | ENSG00000228063 | distal | NA | NA | |
1 | 219,121,228 | C | T | true | distal | 66 | rs61823192 | 0.944415 | Diverticulosis | 0.029748 | 53.666 | intron_variant | dELS | ENSG00000143353 | 52,646 | ENSG00000228063 | 15,178 | 15,178 | ENSG00000228063 | dELS | ENSG00000143353 | 52,646 | ENSG00000228063 | 52,264 | 52,264 | ENSG00000228063 | distal | NA | NA |
1 | 219,123,277 | T | C | false | distal | 66 | rs543731983 | 0.000162 | 0.002858 | 12.134 | intron_variant | dELS | ENSG00000143353 | 50,597 | ENSG00000228063 | 17,227 | 17,227 | ENSG00000228063 | dELS | ENSG00000143353 | 50,597 | ENSG00000228063 | 50,215 | 50,215 | ENSG00000228063 | distal | NA | NA | |
1 | 219,208,285 | G | T | false | distal | 3 | rs10495126 | 0.000135 | 0.293 | 210.84 | intron_variant | dELS_flank | ENSG00000143353 | 2,246 | ENSG00000143353 | 2,056 | 2,056 | ENSG00000143353 | dELS_flank | ENSG00000143353 | 34,406 | ENSG00000143353 | 2,056 | 2,056 | ENSG00000143353 | distal | NA | NA | |
1 | 219,444,566 | T | C | false | distal | 69 | rs11576773 | 0.000082 | 0.26014 | 156.13 | intron_variant | dELS | ENSG00000215817 | 163,445 | ENSG00000228536 | 1,923 | 1,923 | ENSG00000228536 | dELS | ENSG00000215817 | 168,538 | ENSG00000228536 | 1,923 | 1,923 | ENSG00000228536 | distal | NA | NA | |
1 | 219,928,157 | G | A | true | missense_variant | 110 | rs188273166 | 1 | ALT,AST,HDLC | 0.001231 | 6.7115 | missense_variant | missense_variant | ENSG00000196660 | 0 | ENSG00000196660 | 0 | 0 | ENSG00000196660 | missense_variant | ENSG00000196660 | 399 | ENSG00000196660 | 493 | 399 | ENSG00000196660 | missense_variant | NA | NA |
1 | 219,962,773 | A | G | false | non_coding_transcript_exon_variant | 121 | rs10735497 | 0.000048 | 0.47471 | 200.31 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000196660 | 3,754 | ENSG00000221673 | 0 | 0 | ENSG00000221673 | non_coding_transcript_exon_variant | ENSG00000196660 | 3,754 | ENSG00000221673 | 120 | 120 | ENSG00000221673 | non_coding_transcript_exon_variant | NA | NA | |
1 | 220,006,369 | C | A | false | tss_proximal | 185 | rs41274788 | 0.00003 | 0.009159 | 71.601 | intron_variant | intron_variant | ENSG00000136628 | 55 | ENSG00000136628 | 55 | 55 | ENSG00000136628 | tss_proximal | ENSG00000136628 | 40,081 | ENSG00000136628 | 995 | 995 | ENSG00000136628 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
1 | 220,021,001 | A | G | false | distal | 170 | rs1768674 | 0.000248 | 0.16559 | 272.3 | intron_variant | CA-CTCF_flank | ENSG00000136628 | 779 | ENSG00000136628 | 1,345 | 779 | ENSG00000136628 | CA-CTCF_flank | ENSG00000136628 | 25,449 | ENSG00000136628 | 13,635 | 13,635 | ENSG00000136628 | distal | NA | NA | |
1 | 220,057,261 | G | A | false | distal | 186 | rs149345504 | 0.000104 | 0.087831 | 215.66 | downstream_gene_variant | downstream_gene_variant | ENSG00000162813 | 220 | ENSG00000162813 | 5,537 | 220 | ENSG00000162813 | downstream_gene_variant | ENSG00000136628 | 10,755 | ENSG00000136628 | 10,730 | 10,730 | ENSG00000136628 | distal | NA | NA | |
1 | 220,090,556 | A | G | false | tss_proximal | 174 | rs113231783 | 0.000137 | 0.18215 | 167.47 | upstream_gene_variant | PLS | ENSG00000162813 | 93 | ENSG00000162813 | 822 | 93 | ENSG00000162813 | tss_proximal | ENSG00000162813 | 93 | ENSG00000162813 | 822 | 93 | ENSG00000162813 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 220,091,261 | G | A | false | tss_proximal | 137 | rs149846278 | 0.000233 | 0.023111 | 33.909 | upstream_gene_variant | upstream_gene_variant | ENSG00000162813 | 798 | ENSG00000162813 | 1,527 | 798 | ENSG00000162813 | tss_proximal | ENSG00000162813 | 798 | ENSG00000162813 | 1,527 | 798 | ENSG00000162813 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 220,165,209 | G | A | false | non_coding_transcript_exon_variant | 122 | rs147682354 | 0.000079 | 0.006082 | 12.173 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000118873 | 409 | ENSG00000118873 | 0 | 0 | ENSG00000118873 | non_coding_transcript_exon_variant | ENSG00000067704 | 71,076 | ENSG00000118873 | 1,794 | 1,794 | ENSG00000118873 | non_coding_transcript_exon_variant | NA | NA | |
1 | 220,166,137 | G | A | false | non_coding_transcript_exon_variant | 122 | rs2808027 | 0.000032 | 0.009957 | 76.541 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000118873 | 1,155 | ENSG00000118873 | 0 | 0 | ENSG00000118873 | non_coding_transcript_exon_variant | ENSG00000067704 | 72,004 | ENSG00000118873 | 2,722 | 2,722 | ENSG00000118873 | non_coding_transcript_exon_variant | NA | NA | |
1 | 220,448,292 | A | G | false | tss_proximal | 180 | rs75572368 | 0.000883 | 0.031288 | 145.67 | upstream_gene_variant | pELS | ENSG00000116141 | 79,843 | ENSG00000235163 | 223 | 223 | ENSG00000235163 | tss_proximal | ENSG00000116141 | 79,843 | ENSG00000235163 | 223 | 223 | ENSG00000235163 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 220,448,420 | A | G | false | tss_proximal | 180 | rs73092281 | 0.000872 | 0.031506 | 145.86 | upstream_gene_variant | pELS | ENSG00000116141 | 79,715 | ENSG00000235163 | 95 | 95 | ENSG00000235163 | tss_proximal | ENSG00000116141 | 79,715 | ENSG00000235163 | 95 | 95 | ENSG00000235163 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 220,527,843 | A | G | false | tss_proximal | 144 | rs3753874 | 0.000323 | 0.28818 | 219.91 | upstream_gene_variant | pELS | ENSG00000116141 | 292 | ENSG00000116141 | 377 | 292 | ENSG00000116141 | tss_proximal | ENSG00000116141 | 292 | ENSG00000116141 | 377 | 292 | ENSG00000116141 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 220,796,686 | A | G | true | missense_variant | 111 | rs2642438 | 1 | ALP,ALT,ApoA,HDLC,SHBG,TG | 0.29705 | 71.444 | missense_variant | missense_variant | ENSG00000186205 | 0 | ENSG00000186205 | 0 | 0 | ENSG00000186205 | missense_variant | ENSG00000186205 | 68 | ENSG00000186205 | 66 | 66 | ENSG00000186205 | missense_variant | NA | NA |
1 | 220,800,832 | C | T | true | splicing | 188 | rs12046182 | 0.9984 | eBMD | 0.20993 | 62.967 | intron_variant | dELS_flank | ENSG00000186205 | 28 | ENSG00000186205 | 1,817 | 28 | ENSG00000186205 | exon_proximal | ENSG00000186205 | 4,076 | ENSG00000186205 | 3,069 | 3,069 | ENSG00000186205 | splicing | NA | splicing:b1 |
1 | 220,827,800 | A | C | true | distal | 164 | rs61830291 | 0.99659 | TG,eGFR,sCr | 0.096895 | 77.997 | downstream_gene_variant | pELS_flank | ENSG00000186205 | 8,140 | ENSG00000272823 | 875 | 875 | ENSG00000272823 | pELS_flank | ENSG00000186205 | 31,044 | ENSG00000272823 | 1,410 | 1,410 | ENSG00000272823 | distal | NA | NA |
1 | 220,828,385 | A | C | true | tss_proximal | 182 | rs145990041 | 0.997365 | IGF1 | 0.014602 | 68.221 | upstream_gene_variant | pELS | ENSG00000186205 | 8,725 | ENSG00000272823 | 290 | 290 | ENSG00000272823 | tss_proximal | ENSG00000186205 | 31,629 | ENSG00000272823 | 825 | 825 | ENSG00000272823 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
1 | 220,887,821 | A | C | false | distal | 63 | rs2807859 | 0.001627 | 0.46117 | 109.31 | intergenic_variant | dELS | ENSG00000136630 | 2,761 | ENSG00000136630 | 2,764 | 2,761 | ENSG00000136630 | dELS | ENSG00000136630 | 6,751 | ENSG00000257551 | 7,680 | 6,751 | ENSG00000136630 | distal | NA | NA | |
1 | 220,887,912 | C | T | false | distal | 63 | rs2807860 | 0.001821 | 0.46132 | 109.34 | intergenic_variant | dELS | ENSG00000136630 | 2,852 | ENSG00000136630 | 2,855 | 2,852 | ENSG00000136630 | dELS | ENSG00000136630 | 6,842 | ENSG00000257551 | 7,771 | 6,842 | ENSG00000136630 | distal | NA | NA | |
1 | 221,282,876 | T | C | false | distal | 14 | rs3924520 | 0.000636 | 0.28166 | 157.29 | intergenic_variant | dELS_flank | ENSG00000136630 | 397,816 | ENSG00000234754 | 47,203 | 47,203 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 401,806 | ENSG00000234754 | 53,081 | 53,081 | ENSG00000234754 | distal | NA | NA | |
1 | 221,283,337 | T | C | false | distal | 14 | rs2068446 | 0.000642 | 0.28166 | 157.28 | intergenic_variant | dELS_flank | ENSG00000136630 | 398,277 | ENSG00000234754 | 46,742 | 46,742 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 402,267 | ENSG00000234754 | 52,620 | 52,620 | ENSG00000234754 | distal | NA | NA | |
1 | 221,284,847 | A | G | false | distal | 14 | rs34064794 | 0.000618 | 0.2817 | 157.23 | intergenic_variant | dELS_flank | ENSG00000136630 | 399,787 | ENSG00000234754 | 45,232 | 45,232 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 403,777 | ENSG00000234754 | 51,110 | 51,110 | ENSG00000234754 | distal | NA | NA | |
1 | 221,284,992 | A | G | false | distal | 14 | rs35889631 | 0.000621 | 0.28164 | 157.25 | intergenic_variant | dELS_flank | ENSG00000136630 | 399,932 | ENSG00000234754 | 45,087 | 45,087 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 403,922 | ENSG00000234754 | 50,965 | 50,965 | ENSG00000234754 | distal | NA | NA | |
1 | 221,286,443 | A | C | false | distal | 14 | rs12711502 | 0.000377 | 0.28122 | 157.29 | intergenic_variant | dELS_flank | ENSG00000136630 | 401,383 | ENSG00000234754 | 43,636 | 43,636 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 405,373 | ENSG00000234754 | 49,514 | 49,514 | ENSG00000234754 | distal | NA | NA | |
1 | 221,286,448 | T | C | false | distal | 14 | rs12711503 | 0.000455 | 0.28169 | 157.18 | intergenic_variant | dELS_flank | ENSG00000136630 | 401,388 | ENSG00000234754 | 43,631 | 43,631 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 405,378 | ENSG00000234754 | 49,509 | 49,509 | ENSG00000234754 | distal | NA | NA | |
1 | 221,292,690 | C | T | false | distal | 14 | rs58846930 | 0.001205 | 0.32527 | 161.23 | intergenic_variant | dELS_flank | ENSG00000136630 | 407,630 | ENSG00000234754 | 37,389 | 37,389 | ENSG00000234754 | dELS_flank | ENSG00000136630 | 411,620 | ENSG00000234754 | 43,267 | 43,267 | ENSG00000234754 | distal | NA | NA | |
1 | 221,738,195 | T | C | false | distal | 39 | rs79278676 | 0.000921 | 0.035125 | 55.823 | intron_variant | dELS | ENSG00000143507 | 738 | ENSG00000143507 | 1,294 | 738 | ENSG00000143507 | dELS | ENSG00000143507 | 3,893 | ENSG00000143507 | 1,294 | 1,294 | ENSG00000143507 | distal | NA | NA | |
1 | 221,839,608 | A | C | false | distal | 152 | rs4579763 | 0.000058 | 0.12912 | 61.268 | intron_variant | pELS | ENSG00000143507 | 97,518 | ENSG00000227925 | 699 | 699 | ENSG00000227925 | pELS | ENSG00000143507 | 97,518 | ENSG00000227925 | 1,080 | 1,080 | ENSG00000227925 | distal | NA | NA | |
1 | 222,628,319 | A | T | false | missense_variant | 95 | rs142088763 | 0.000025 | 0.015733 | 17.635 | missense_variant | missense_variant | ENSG00000154305 | 0 | ENSG00000154305 | 0 | 0 | ENSG00000154305 | missense_variant | ENSG00000154305 | 154 | ENSG00000154305 | 10,219 | 154 | ENSG00000154305 | missense_variant | NA | NA | |
1 | 222,629,720 | A | G | false | missense_variant | 75 | rs79054337 | 0.000032 | 0.008589 | 23.345 | missense_variant | missense_variant | ENSG00000154305 | 0 | ENSG00000154305 | 0 | 0 | ENSG00000154305 | missense_variant | ENSG00000154305 | 1,245 | ENSG00000154305 | 11,620 | 1,245 | ENSG00000154305 | missense_variant | NA | NA | |
1 | 222,791,380 | G | A | false | distal | 35 | rs4316372 | 0.000028 | 0.42197 | 72.667 | intergenic_variant | dELS | ENSG00000154309 | 23,658 | ENSG00000287684 | 18,230 | 18,230 | ENSG00000287684 | dELS | ENSG00000154309 | 23,658 | ENSG00000287684 | 18,230 | 18,230 | ENSG00000287684 | distal | NA | NA | |
1 | 223,005,136 | G | A | false | missense_variant | 85 | rs9441940 | 0.000064 | 0.18325 | 107.79 | missense_variant | missense_variant | ENSG00000154309 | 0 | ENSG00000154309 | 0 | 0 | ENSG00000154309 | missense_variant | ENSG00000154309 | 76,711 | ENSG00000234523 | 59,410 | 59,410 | ENSG00000234523 | missense_variant | NA | NA | |
1 | 223,162,748 | G | A | false | distal | 156 | rs1773755 | 0.000029 | 0.32128 | 107.79 | intergenic_variant | intergenic_variant | ENSG00000187554 | 19,499 | ENSG00000236846 | 17,793 | 17,793 | ENSG00000236846 | intergenic_variant | ENSG00000187554 | 19,499 | ENSG00000226601 | 18,395 | 18,395 | ENSG00000226601 | distal | NA | NA | |
1 | 223,231,735 | C | G | false | tss_proximal | 178 | rs143318183 | 0.000015 | 0.024465 | 22.873 | intron_variant | dELS_flank | ENSG00000143502 | 2,340 | ENSG00000143502 | 987 | 987 | ENSG00000143502 | tss_proximal | ENSG00000187554 | 88,486 | ENSG00000143502 | 987 | 987 | ENSG00000143502 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 223,394,461 | G | A | false | missense_variant | 114 | rs10907376 | 0.006506 | 0.27694 | 182.23 | missense_variant | missense_variant | ENSG00000178395 | 0 | ENSG00000251789 | 20,504 | 0 | ENSG00000178395 | missense_variant | ENSG00000178395 | 1,045 | ENSG00000251789 | 20,638 | 1,045 | ENSG00000178395 | missense_variant | NA | NA | |
1 | 223,541,587 | A | G | false | splicing | 188 | rs61823523 | 0.000022 | 0.20337 | 129.98 | intron_variant | CA-CTCF | ENSG00000203697 | 28 | ENSG00000203697 | 28 | 28 | ENSG00000203697 | exon_proximal | ENSG00000203697 | 9,429 | ENSG00000203697 | 1,578 | 1,578 | ENSG00000203697 | splicing | NA | splicing:b1 | |
1 | 223,544,808 | C | T | false | missense_variant | 86 | rs148756356 | 0.000087 | 0.006921 | 20.079 | missense_variant | missense_variant | ENSG00000203697 | 0 | ENSG00000203697 | 0 | 0 | ENSG00000203697 | missense_variant | ENSG00000203697 | 6,208 | ENSG00000203697 | 537 | 537 | ENSG00000203697 | missense_variant | NA | NA | |
1 | 223,626,980 | A | T | false | splicing | 188 | rs67990281 | 0.000019 | 0.20218 | 132.72 | intron_variant | intron_variant | ENSG00000203697 | 8 | ENSG00000203697 | 8 | 8 | ENSG00000203697 | exon_proximal | ENSG00000203697 | 1,724 | ENSG00000203697 | 1,989 | 1,724 | ENSG00000203697 | splicing | NA | splicing:b1 | |
1 | 223,635,709 | A | G | false | distal | 4 | rs28971445 | 0.000024 | 0.33998 | 110.26 | intron_variant | dELS_flank | ENSG00000203697 | 6,928 | ENSG00000203697 | 6,738 | 6,738 | ENSG00000203697 | dELS_flank | ENSG00000203697 | 7,003 | ENSG00000203697 | 6,738 | 6,738 | ENSG00000203697 | distal | NA | NA | |
1 | 223,710,653 | G | A | false | distal | 150 | rs28739568 | 0.000012 | 0.023698 | 32.523 | intron_variant | pELS | ENSG00000162909 | 1,885 | ENSG00000212398 | 20,538 | 1,885 | ENSG00000162909 | pELS | ENSG00000162909 | 1,885 | ENSG00000212398 | 20,601 | 1,885 | ENSG00000162909 | distal | NA | NA | |
1 | 223,710,988 | C | T | false | distal | 150 | rs12130788 | 0.000579 | 0.063375 | 131.27 | intron_variant | pELS | ENSG00000162909 | 1,550 | ENSG00000212398 | 20,873 | 1,550 | ENSG00000162909 | pELS | ENSG00000162909 | 1,550 | ENSG00000212398 | 20,936 | 1,550 | ENSG00000162909 | distal | NA | NA | |
1 | 223,761,612 | G | C | false | missense_variant | 106 | rs28370127 | 0.000026 | 0.009828 | 39.09 | missense_variant | missense_variant | ENSG00000162909 | 0 | ENSG00000162909 | 0 | 0 | ENSG00000162909 | missense_variant | ENSG00000162909 | 49,072 | ENSG00000162909 | 2,177 | 2,177 | ENSG00000162909 | missense_variant | NA | NA | |
1 | 223,786,608 | A | G | false | distal | 13 | rs11810318 | 0.000045 | 0.34886 | 213.3 | intron_variant | dELS_flank | ENSG00000143514 | 2,293 | ENSG00000143514 | 2,293 | 2,293 | ENSG00000143514 | dELS_flank | ENSG00000143514 | 27,719 | ENSG00000143514 | 14,117 | 14,117 | ENSG00000143514 | distal | NA | NA | |
1 | 223,804,257 | G | A | false | missense_variant | 94 | rs61749337 | 0.00003 | 0.01502 | 22.654 | missense_variant | missense_variant | ENSG00000143514 | 0 | ENSG00000143514 | 0 | 0 | ENSG00000143514 | missense_variant | ENSG00000143514 | 10,070 | ENSG00000143514 | 926 | 926 | ENSG00000143514 | missense_variant | NA | NA | |
1 | 223,910,278 | A | G | false | distal | 157 | rs12044554 | 0.000125 | 0.28061 | 250.51 | intergenic_variant | intergenic_variant | ENSG00000143514 | 64,330 | ENSG00000233771 | 37,326 | 37,326 | ENSG00000233771 | intergenic_variant | ENSG00000143514 | 64,330 | ENSG00000233771 | 37,326 | 37,326 | ENSG00000233771 | distal | NA | NA | |
1 | 224,128,503 | T | C | false | distal | 15 | rs12737029 | 0.000088 | 0.1424 | 151.85 | intron_variant | dELS_flank | ENSG00000143756 | 1,968 | ENSG00000143756 | 1,968 | 1,968 | ENSG00000143756 | dELS_flank | ENSG00000143756 | 14,391 | ENSG00000143756 | 14,284 | 14,284 | ENSG00000143756 | distal | NA | NA | |
1 | 224,215,007 | G | T | false | distal | 164 | rs150030688 | 0.000021 | 0.097941 | 133.77 | intergenic_variant | pELS_flank | ENSG00000143748 | 12,326 | ENSG00000232628 | 1,381 | 1,381 | ENSG00000232628 | pELS_flank | ENSG00000143753 | 31,740 | ENSG00000232628 | 1,381 | 1,381 | ENSG00000232628 | distal | NA | NA | |
1 | 224,514,566 | C | T | false | tss_proximal | 180 | rs141153132 | 0.000292 | 0.03639 | 82.688 | intron_variant | dELS_flank | ENSG00000162923 | 77,532 | ENSG00000143786 | 629 | 629 | ENSG00000143786 | tss_proximal | ENSG00000162923 | 77,532 | ENSG00000143786 | 877 | 877 | ENSG00000143786 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 224,608,418 | T | C | false | non_coding_transcript_exon_variant | 118 | rs2405317 | 0.000105 | 0.40087 | 177.71 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000143786 | 7,898 | ENSG00000233384 | 0 | 0 | ENSG00000233384 | non_coding_transcript_exon_variant | ENSG00000143786 | 7,898 | ENSG00000233384 | 7,440 | 7,440 | ENSG00000233384 | non_coding_transcript_exon_variant | NA | NA | |
1 | 224,608,637 | A | G | false | non_coding_transcript_exon_variant | 118 | rs4654057 | 0.000118 | 0.40252 | 178.84 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000143786 | 7,679 | ENSG00000233384 | 0 | 0 | ENSG00000233384 | non_coding_transcript_exon_variant | ENSG00000143786 | 7,679 | ENSG00000233384 | 7,221 | 7,221 | ENSG00000233384 | non_coding_transcript_exon_variant | NA | NA | |
1 | 224,632,746 | A | G | false | distal | 35 | rs6661853 | 0.000065 | 0.42438 | 183.83 | intron_variant | dELS | ENSG00000143786 | 15,490 | ENSG00000233384 | 16,525 | 15,490 | ENSG00000143786 | dELS | ENSG00000143786 | 16,428 | ENSG00000233384 | 16,525 | 16,428 | ENSG00000143786 | distal | NA | NA | |
1 | 225,276,070 | A | G | false | missense_variant | 85 | rs581675 | 0.000322 | 0.1098 | 341.77 | missense_variant | missense_variant | ENSG00000185842 | 0 | ENSG00000185842 | 0 | 0 | ENSG00000185842 | missense_variant | ENSG00000185842 | 25,406 | ENSG00000185842 | 35,275 | 25,406 | ENSG00000185842 | missense_variant | NA | NA | |
1 | 225,346,229 | A | G | false | missense_variant | 85 | rs17522489 | 0.000634 | 0.17924 | 161.3 | missense_variant | missense_variant | ENSG00000185842 | 0 | ENSG00000185842 | 0 | 0 | ENSG00000185842 | missense_variant | ENSG00000185842 | 43,510 | ENSG00000143815 | 58,335 | 43,510 | ENSG00000185842 | missense_variant | NA | NA | |
1 | 225,354,197 | C | T | false | missense_variant | 85 | rs3915579 | 0.00005 | 0.069451 | 118.84 | missense_variant | missense_variant | ENSG00000185842 | 0 | ENSG00000185842 | 2,313 | 0 | ENSG00000185842 | missense_variant | ENSG00000185842 | 35,542 | ENSG00000143815 | 50,367 | 35,542 | ENSG00000185842 | missense_variant | NA | NA | |
1 | 225,373,644 | T | C | true | distal | 171 | rs7518221 | 0.969785 | BMI,BW | 0.35447 | 162.29 | intron_variant | CA-CTCF_flank | ENSG00000185842 | 1,043 | ENSG00000185842 | 1,043 | 1,043 | ENSG00000185842 | CA-CTCF_flank | ENSG00000185842 | 16,095 | ENSG00000143815 | 30,920 | 16,095 | ENSG00000185842 | distal | NA | NA |
1 | 225,389,946 | C | T | false | tss_proximal | 190 | rs12134158 | 0.000325 | 0.40822 | 195.44 | intron_variant | dELS | ENSG00000185842 | 72 | ENSG00000185842 | 72 | 72 | ENSG00000185842 | tss_proximal | ENSG00000185842 | 205 | ENSG00000143815 | 14,618 | 205 | ENSG00000185842 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
1 | 225,700,346 | A | G | false | non_coding_transcript_exon_variant | 116 | rs7532354 | 0.000197 | 0.066735 | 92.387 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000154380 | 47,203 | ENSG00000227496 | 0 | 0 | ENSG00000227496 | non_coding_transcript_exon_variant | ENSG00000154380 | 47,203 | ENSG00000227496 | 81 | 81 | ENSG00000227496 | non_coding_transcript_exon_variant | NA | NA | |
1 | 225,774,988 | C | T | true | distal | 67 | rs6696074 | 0.963165 | HbA1c,Plt | 0.43433 | 98.571 | intergenic_variant | dELS | ENSG00000143742 | 2,824 | ENSG00000143742 | 2,857 | 2,824 | ENSG00000143742 | dELS | ENSG00000143742 | 2,824 | ENSG00000143742 | 2,857 | 2,824 | ENSG00000143742 | distal | NA | NA |
1 | 225,787,842 | G | A | false | distal | 24 | rs4653677 | 0.000171 | 0.096332 | 78.067 | intron_variant | dELS_flank | ENSG00000143742 | 128 | ENSG00000143742 | 662 | 128 | ENSG00000143742 | dELS_flank | ENSG00000143742 | 9,906 | ENSG00000143742 | 9,963 | 9,906 | ENSG00000143742 | distal | NA | NA | |
1 | 225,857,685 | T | C | false | distal | 39 | rs77715761 | 0.00025 | 0.037135 | 147.63 | intron_variant | dELS | ENSG00000196187 | 667 | ENSG00000196187 | 667 | 667 | ENSG00000196187 | dELS | ENSG00000196187 | 9,062 | ENSG00000196187 | 1,855 | 1,855 | ENSG00000196187 | distal | NA | NA | |
1 | 225,862,909 | C | A | false | non_coding_transcript_exon_variant | 120 | rs10158985 | 0.000062 | 0.22746 | 63.117 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000196187 | 57 | ENSG00000196187 | 0 | 0 | ENSG00000196187 | non_coding_transcript_exon_variant | ENSG00000196187 | 3,838 | ENSG00000196187 | 3,301 | 3,301 | ENSG00000196187 | non_coding_transcript_exon_variant | NA | NA | |
1 | 225,866,633 | G | A | false | missense_variant | 103 | rs45492299 | 0.000381 | 0.17439 | 94.066 | missense_variant | missense_variant | ENSG00000196187 | 0 | ENSG00000196187 | 222 | 0 | ENSG00000196187 | missense_variant | ENSG00000196187 | 114 | ENSG00000196187 | 222 | 114 | ENSG00000196187 | missense_variant | NA | NA | |
1 | 225,888,008 | A | G | false | missense_variant | 95 | rs145431393 | 0.00019 | 0.035194 | 139.77 | missense_variant | missense_variant | ENSG00000243709 | 0 | ENSG00000243709 | 0 | 0 | ENSG00000243709 | missense_variant | ENSG00000243709 | 1,137 | ENSG00000196187 | 10,513 | 1,137 | ENSG00000243709 | missense_variant | NA | NA | |
1 | 225,888,969 | C | T | false | missense_variant | 95 | rs41310561 | 0.000228 | 0.036955 | 147.87 | missense_variant | missense_variant | ENSG00000243709 | 0 | ENSG00000243709 | 936 | 0 | ENSG00000243709 | missense_variant | ENSG00000243709 | 176 | ENSG00000196187 | 11,474 | 176 | ENSG00000243709 | missense_variant | NA | NA | |
1 | 225,926,799 | G | A | false | distal | 56 | rs10799329 | 0.001575 | 0.22029 | 90.07 | intergenic_variant | dELS | ENSG00000143811 | 2,458 | ENSG00000143811 | 2,520 | 2,458 | ENSG00000143811 | dELS | ENSG00000143811 | 2,458 | ENSG00000143811 | 2,520 | 2,458 | ENSG00000143811 | distal | NA | NA | |
1 | 226,063,637 | C | T | false | 5_prime_UTR_variant | 127 | rs56268212 | 0.000457 | 0.010196 | 24.352 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000163041 | 0 | ENSG00000163041 | 691 | 0 | ENSG00000163041 | 5_prime_UTR_variant | ENSG00000163041 | 142 | ENSG00000163041 | 853 | 142 | ENSG00000163041 | 5_prime_UTR_variant | NA | NA | |
1 | 226,122,239 | A | G | false | distal | 60 | rs185276885 | 0.000192 | 0.040025 | 38.815 | intergenic_variant | dELS | ENSG00000182827 | 22,439 | ENSG00000270598 | 4,938 | 4,938 | ENSG00000270598 | dELS | ENSG00000163041 | 58,261 | ENSG00000270598 | 4,938 | 4,938 | ENSG00000270598 | distal | NA | NA | |
1 | 226,254,768 | G | A | false | distal | 48 | rs12130923 | 0.000033 | 0.006549 | 10.585 | intron_variant | dELS | ENSG00000183814 | 3,848 | ENSG00000185155 | 28,378 | 3,848 | ENSG00000183814 | dELS | ENSG00000185155 | 31,103 | ENSG00000185155 | 29,264 | 29,264 | ENSG00000185155 | distal | NA | NA | |
1 | 226,254,808 | G | A | false | distal | 48 | rs552198669 | 0.000024 | 0.002383 | 15.169 | intron_variant | dELS | ENSG00000183814 | 3,888 | ENSG00000185155 | 28,418 | 3,888 | ENSG00000183814 | dELS | ENSG00000185155 | 31,143 | ENSG00000185155 | 29,304 | 29,304 | ENSG00000185155 | distal | NA | NA | |
1 | 226,254,885 | T | C | false | distal | 48 | rs545136041 | 0.003056 | 0.002805 | 15.045 | intron_variant | dELS | ENSG00000183814 | 3,965 | ENSG00000185155 | 28,495 | 3,965 | ENSG00000183814 | dELS | ENSG00000185155 | 31,220 | ENSG00000185155 | 29,381 | 29,381 | ENSG00000185155 | distal | NA | NA | |
1 | 226,335,062 | G | A | false | distal | 22 | rs185909393 | 0.00611 | 0.003006 | 13.547 | intergenic_variant | dELS_flank | ENSG00000183814 | 25,192 | ENSG00000275406 | 1,406 | 1,406 | ENSG00000275406 | dELS_flank | ENSG00000183814 | 25,192 | ENSG00000275406 | 1,406 | 1,406 | ENSG00000275406 | distal | NA | NA | |
1 | 226,335,270 | A | G | false | distal | 22 | rs150312568 | 0.000037 | 0.011786 | 27.272 | intergenic_variant | dELS_flank | ENSG00000183814 | 25,400 | ENSG00000275406 | 1,614 | 1,614 | ENSG00000275406 | dELS_flank | ENSG00000183814 | 25,400 | ENSG00000275406 | 1,614 | 1,614 | ENSG00000275406 | distal | NA | NA | |
1 | 226,449,044 | T | G | false | distal | 50 | rs12026209 | 0.003643 | 0.24543 | 118.9 | intergenic_variant | dELS | ENSG00000143799 | 40,943 | ENSG00000223282 | 2,751 | 2,751 | ENSG00000223282 | dELS | ENSG00000143799 | 40,943 | ENSG00000223282 | 3,106 | 3,106 | ENSG00000223282 | distal | NA | NA | |
1 | 226,585,132 | T | G | false | distal | 147 | rs1461921 | 0.000038 | 0.45312 | 82.279 | intron_variant | intron_variant | ENSG00000203685 | 11,669 | ENSG00000203685 | 15,456 | 11,669 | ENSG00000203685 | intron_variant | ENSG00000203685 | 36,331 | ENSG00000203685 | 15,456 | 15,456 | ENSG00000203685 | distal | NA | NA | |
1 | 226,601,745 | G | A | false | distal | 3 | rs731039 | 0.000099 | 0.28096 | 81.666 | intron_variant | dELS_flank | ENSG00000203685 | 260 | ENSG00000203685 | 260 | 260 | ENSG00000203685 | dELS_flank | ENSG00000203685 | 52,944 | ENSG00000203685 | 1,155 | 1,155 | ENSG00000203685 | distal | NA | NA | |
1 | 226,634,679 | G | C | false | missense_variant | 112 | rs41268733 | 0.000028 | 0.003081 | 23.78 | missense_variant | missense_variant | ENSG00000143772 | 0 | ENSG00000228382 | 21,400 | 0 | ENSG00000143772 | missense_variant | ENSG00000203685 | 85,878 | ENSG00000228382 | 24,990 | 24,990 | ENSG00000228382 | missense_variant | NA | NA | |
1 | 226,637,747 | C | T | false | missense_variant | 112 | rs41314270 | 0.000066 | 0.001439 | 7.9046 | missense_variant | missense_variant | ENSG00000143772 | 0 | ENSG00000228382 | 18,332 | 0 | ENSG00000143772 | missense_variant | ENSG00000203685 | 88,946 | ENSG00000228382 | 21,922 | 21,922 | ENSG00000228382 | missense_variant | NA | NA | |
1 | 226,642,093 | C | T | false | missense_variant | 112 | rs200031424 | 0.000067 | 0.000054 | 7.5005 | missense_variant | missense_variant | ENSG00000143772 | 0 | ENSG00000228382 | 13,986 | 0 | ENSG00000143772 | missense_variant | ENSG00000203685 | 93,292 | ENSG00000228382 | 17,576 | 17,576 | ENSG00000228382 | missense_variant | NA | NA | |
1 | 226,883,747 | C | T | false | missense_variant | 80 | rs150400387 | 0.000092 | 0.000734 | 9.5197 | missense_variant | missense_variant | ENSG00000143801 | 0 | ENSG00000143801 | 0 | 0 | ENSG00000143801 | missense_variant | ENSG00000143801 | 875 | ENSG00000143801 | 743 | 743 | ENSG00000143801 | missense_variant | NA | NA | |
1 | 226,883,748 | G | A | false | missense_variant | 80 | rs58973334 | 0.000039 | 0.001036 | 57.643 | missense_variant | missense_variant | ENSG00000143801 | 0 | ENSG00000143801 | 0 | 0 | ENSG00000143801 | missense_variant | ENSG00000143801 | 874 | ENSG00000143801 | 744 | 744 | ENSG00000143801 | missense_variant | NA | NA | |
1 | 226,966,532 | G | A | false | distal | 36 | rs2802277 | 0.000599 | 0.21318 | 328.86 | intron_variant | dELS | ENSG00000163050 | 794 | ENSG00000163050 | 794 | 794 | ENSG00000163050 | dELS | ENSG00000163050 | 26,237 | ENSG00000228525 | 8,264 | 8,264 | ENSG00000228525 | distal | NA | NA | |
1 | 227,069,805 | G | A | false | missense_variant | 76 | rs548551223 | 0.0002 | 0.000435 | 8.0779 | missense_variant | missense_variant | ENSG00000143776 | 0 | ENSG00000143776 | 0 | 0 | ENSG00000143776 | missense_variant | ENSG00000143776 | 4,558 | ENSG00000143776 | 11,119 | 4,558 | ENSG00000143776 | missense_variant | NA | NA | |
1 | 227,245,222 | C | G | false | distal | 26 | rs2670462 | 0.001959 | 0.37558 | 457.32 | intron_variant | dELS | ENSG00000143776 | 8,841 | ENSG00000143776 | 8,841 | 8,841 | ENSG00000143776 | dELS | ENSG00000143776 | 71,959 | ENSG00000143776 | 8,932 | 8,932 | ENSG00000143776 | distal | NA | NA | |
1 | 227,316,437 | G | A | false | tss_proximal | 144 | rs4653819 | 0.000344 | 0.28482 | 829.17 | intron_variant | pELS_flank | ENSG00000143776 | 567 | ENSG00000143776 | 567 | 567 | ENSG00000143776 | tss_proximal | ENSG00000143776 | 744 | ENSG00000143776 | 609 | 609 | ENSG00000143776 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 227,316,602 | T | C | false | tss_proximal | 144 | rs4653820 | 0.000344 | 0.28482 | 829.17 | intron_variant | pELS | ENSG00000143776 | 402 | ENSG00000143776 | 402 | 402 | ENSG00000143776 | tss_proximal | ENSG00000143776 | 579 | ENSG00000143776 | 444 | 444 | ENSG00000143776 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
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