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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
19 | 6,609,658 | G | A | false | distal | 1,055 | rs344581 | 0.000106 | 0.318 | 36.136 | intergenic_variant | dELS_flank | ENSG00000125726 | 5,554 | ENSG00000268785 | 15,602 | 5,554 | ENSG00000125726 | dELS_flank | ENSG00000125726 | 5,554 | ENSG00000268785 | 16,328 | 5,554 | ENSG00000125726 | distal | NA | NA | |
19 | 6,665,009 | T | C | true | missense_variant | 1,004 | rs344560 | 0.99318 | GGT | 0.05512 | 21.588 | missense_variant | missense_variant | ENSG00000125735 | 0 | ENSG00000125730 | 12,694 | 0 | ENSG00000125735 | missense_variant | ENSG00000125735 | 5,107 | ENSG00000125730 | 13,320 | 5,107 | ENSG00000125735 | missense_variant | NA | NA |
19 | 6,675,978 | A | G | true | distal | 1,040 | rs413141 | 1 | Lym,Mono | 0.13635 | 23.754 | intergenic_variant | dELS_flank | ENSG00000125730 | 1,725 | ENSG00000125730 | 1,725 | 1,725 | ENSG00000125730 | dELS_flank | ENSG00000125730 | 3,222 | ENSG00000125730 | 2,351 | 2,351 | ENSG00000125730 | distal | NA | NA |
19 | 6,678,860 | C | A | false | tss_proximal | 985 | rs11569561 | 0.000164 | 0.2368 | 25.996 | intron_variant | dELS | ENSG00000125730 | 264 | ENSG00000125730 | 264 | 264 | ENSG00000125730 | tss_proximal | ENSG00000125730 | 340 | ENSG00000125730 | 529 | 340 | ENSG00000125730 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 6,707,877 | T | C | false | missense_variant | 1,022 | rs140655115 | 0.00005 | 0.001052 | 3.4614 | missense_variant | missense_variant | ENSG00000125730 | 0 | ENSG00000125730 | 0 | 0 | ENSG00000125730 | missense_variant | ENSG00000125730 | 493 | ENSG00000125730 | 167 | 167 | ENSG00000125730 | missense_variant | NA | NA | |
19 | 6,735,918 | C | T | false | missense_variant | 1,021 | rs11539588 | 0.000243 | 0.014758 | 7.4898 | missense_variant | missense_variant | ENSG00000125734 | 0 | ENSG00000125734 | 0 | 0 | ENSG00000125734 | missense_variant | ENSG00000125734 | 1,341 | ENSG00000283950 | 859 | 859 | ENSG00000283950 | missense_variant | NA | NA | |
19 | 6,739,517 | G | T | false | tss_proximal | 991 | rs552705253 | 0.00005 | 0.003332 | 3.2336 | intron_variant | PLS | ENSG00000125733 | 162 | ENSG00000125733 | 196 | 162 | ENSG00000125733 | tss_proximal | ENSG00000125733 | 162 | ENSG00000125733 | 196 | 162 | ENSG00000125733 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 6,742,632 | A | G | false | distal | 1,038 | rs35071395 | 0.000091 | 0.33265 | 25.028 | intron_variant | dELS_flank | ENSG00000125733 | 334 | ENSG00000125733 | 334 | 334 | ENSG00000125733 | dELS_flank | ENSG00000125733 | 1,713 | ENSG00000125733 | 1,406 | 1,406 | ENSG00000125733 | distal | NA | NA | |
19 | 6,742,853 | G | A | false | distal | 1,076 | rs339408 | 0.00512 | 0.4322 | 26.554 | intron_variant | dELS | ENSG00000125733 | 113 | ENSG00000125733 | 113 | 113 | ENSG00000125733 | dELS | ENSG00000125733 | 1,934 | ENSG00000125733 | 1,627 | 1,627 | ENSG00000125733 | distal | NA | NA | |
19 | 6,746,439 | A | C | false | missense_variant | 1,015 | rs74349758 | 0.000079 | 0.012804 | 5.4642 | missense_variant | missense_variant | ENSG00000125733 | 12 | ENSG00000125733 | 0 | 0 | ENSG00000125733 | missense_variant | ENSG00000125733 | 5,520 | ENSG00000125733 | 130 | 130 | ENSG00000125733 | missense_variant | NA | NA | |
19 | 6,761,000 | T | G | false | splicing | 1,131 | rs7246122 | 0.000749 | 0.22225 | 44.525 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000125731 | 12 | ENSG00000125731 | 12 | 12 | ENSG00000125731 | splice_polypyrimidine_tract_variant | ENSG00000125731 | 6,434 | ENSG00000125731 | 164 | 164 | ENSG00000125731 | splicing | NA | splicing:b1 | |
19 | 6,802,560 | C | T | true | distal | 1,073 | rs8106212 | 0.99982 | Plt | 0.012051 | 10.085 | intron_variant | dELS | ENSG00000141968 | 13,875 | ENSG00000141968 | 19,876 | 13,875 | ENSG00000141968 | dELS | ENSG00000141968 | 13,875 | ENSG00000141968 | 19,876 | 13,875 | ENSG00000141968 | distal | NA | NA |
19 | 6,803,210 | A | G | false | distal | 1,073 | rs12232825 | 0.000097 | 0.017547 | 13.519 | intron_variant | dELS | ENSG00000141968 | 13,225 | ENSG00000141968 | 19,226 | 13,225 | ENSG00000141968 | dELS | ENSG00000141968 | 13,225 | ENSG00000141968 | 19,226 | 13,225 | ENSG00000141968 | distal | NA | NA | |
19 | 6,803,259 | C | A | false | distal | 1,073 | rs8109794 | 0.000082 | 0.017498 | 13.65 | intron_variant | dELS | ENSG00000141968 | 13,176 | ENSG00000141968 | 19,177 | 13,176 | ENSG00000141968 | dELS | ENSG00000141968 | 13,176 | ENSG00000141968 | 19,177 | 13,176 | ENSG00000141968 | distal | NA | NA | |
19 | 6,822,208 | T | C | false | splicing | 1,132 | rs347033 | 0.000482 | 0.20505 | 11.079 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000141968 | 12 | ENSG00000141968 | 228 | 12 | ENSG00000141968 | splice_polypyrimidine_tract_variant | ENSG00000141968 | 5,771 | ENSG00000141968 | 228 | 228 | ENSG00000141968 | splicing | NA | splicing:b1 | |
19 | 6,897,381 | G | A | false | tss_proximal | 1,103 | rs330879 | 0.000076 | 0.29122 | 93.237 | intron_variant | intron_variant | ENSG00000174837 | 46 | ENSG00000174837 | 46 | 46 | ENSG00000174837 | tss_proximal | ENSG00000174837 | 974 | ENSG00000280091 | 548 | 548 | ENSG00000280091 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
19 | 7,139,912 | G | C | false | distal | 1,042 | rs8100585 | 0.000985 | 0.06551 | 28.35 | intron_variant | dELS_flank | ENSG00000171105 | 1,764 | ENSG00000171105 | 1,597 | 1,597 | ENSG00000171105 | dELS_flank | ENSG00000171105 | 28,065 | ENSG00000171105 | 3,127 | 3,127 | ENSG00000171105 | distal | NA | NA | |
19 | 7,139,945 | A | C | false | distal | 1,042 | rs8101843 | 0.000912 | 0.06548 | 28.358 | intron_variant | dELS_flank | ENSG00000171105 | 1,731 | ENSG00000171105 | 1,564 | 1,564 | ENSG00000171105 | dELS_flank | ENSG00000171105 | 28,032 | ENSG00000171105 | 3,094 | 3,094 | ENSG00000171105 | distal | NA | NA | |
19 | 7,145,298 | C | T | false | distal | 1,042 | rs8103366 | 0.001156 | 0.06624 | 27.839 | intron_variant | dELS_flank | ENSG00000171105 | 2,207 | ENSG00000171105 | 2,257 | 2,207 | ENSG00000171105 | dELS_flank | ENSG00000171105 | 22,679 | ENSG00000171105 | 2,257 | 2,257 | ENSG00000171105 | distal | NA | NA | |
19 | 7,145,363 | C | T | false | distal | 1,048 | rs8103483 | 0.000204 | 0.48813 | 28.46 | intron_variant | dELS_flank | ENSG00000171105 | 2,272 | ENSG00000171105 | 2,322 | 2,272 | ENSG00000171105 | dELS_flank | ENSG00000171105 | 22,614 | ENSG00000171105 | 2,322 | 2,322 | ENSG00000171105 | distal | NA | NA | |
19 | 7,252,745 | C | T | false | distal | 1,074 | rs4247374 | 0.001031 | 0.14161 | 24.342 | intron_variant | dELS | ENSG00000171105 | 14,599 | ENSG00000171105 | 14,599 | 14,599 | ENSG00000171105 | dELS | ENSG00000171105 | 41,185 | ENSG00000171105 | 41,120 | 41,120 | ENSG00000171105 | distal | NA | NA | |
19 | 7,256,770 | A | G | false | distal | 1,074 | rs73492827 | 0.000995 | 0.16095 | 20.561 | intron_variant | dELS | ENSG00000171105 | 10,574 | ENSG00000171105 | 10,574 | 10,574 | ENSG00000171105 | dELS | ENSG00000171105 | 37,160 | ENSG00000171105 | 37,095 | 37,095 | ENSG00000171105 | distal | NA | NA | |
19 | 7,257,979 | C | G | true | distal | 1,074 | rs12978472 | 0.98653 | MAP,SBP | 0.12955 | 26.665 | intron_variant | dELS | ENSG00000171105 | 9,365 | ENSG00000171105 | 9,365 | 9,365 | ENSG00000171105 | dELS | ENSG00000171105 | 35,951 | ENSG00000171105 | 35,886 | 35,886 | ENSG00000171105 | distal | NA | NA |
19 | 7,258,394 | G | C | true | distal | 1,075 | rs11671314 | 0.999315 | SBP | 0.12275 | 15.548 | intron_variant | dELS | ENSG00000171105 | 8,950 | ENSG00000171105 | 8,950 | 8,950 | ENSG00000171105 | dELS | ENSG00000171105 | 35,536 | ENSG00000171105 | 35,471 | 35,471 | ENSG00000171105 | distal | NA | NA |
19 | 7,262,558 | T | C | false | distal | 1,075 | rs7258382 | 0.000439 | 0.16489 | 24.606 | intron_variant | dELS | ENSG00000171105 | 4,786 | ENSG00000171105 | 4,786 | 4,786 | ENSG00000171105 | dELS | ENSG00000171105 | 31,372 | ENSG00000171105 | 31,307 | 31,307 | ENSG00000171105 | distal | NA | NA | |
19 | 7,346,876 | A | G | false | distal | 1,117 | rs6603095 | 0.000161 | 0.046009 | 125.66 | intergenic_variant | pELS | ENSG00000104880 | 2,060 | ENSG00000267852 | 43,645 | 2,060 | ENSG00000104880 | pELS | ENSG00000104880 | 2,060 | ENSG00000267852 | 48,162 | 2,060 | ENSG00000104880 | distal | NA | NA | |
19 | 7,347,655 | G | A | false | distal | 1,117 | rs12327892 | 0.000423 | 0.041343 | 130.67 | intergenic_variant | pELS | ENSG00000104880 | 1,281 | ENSG00000267852 | 42,866 | 1,281 | ENSG00000104880 | pELS | ENSG00000104880 | 1,281 | ENSG00000267852 | 47,383 | 1,281 | ENSG00000104880 | distal | NA | NA | |
19 | 7,347,692 | G | A | false | distal | 1,117 | rs12327893 | 0.000179 | 0.043197 | 127.23 | intergenic_variant | pELS | ENSG00000104880 | 1,244 | ENSG00000267852 | 42,829 | 1,244 | ENSG00000104880 | pELS | ENSG00000104880 | 1,244 | ENSG00000267852 | 47,346 | 1,244 | ENSG00000104880 | distal | NA | NA | |
19 | 7,350,086 | G | A | false | distal | 1,117 | rs11879612 | 0.000852 | 0.021509 | 16.207 | intron_variant | pELS | ENSG00000104880 | 844 | ENSG00000267852 | 40,435 | 844 | ENSG00000104880 | pELS | ENSG00000104880 | 1,148 | ENSG00000267852 | 44,952 | 1,148 | ENSG00000104880 | distal | NA | NA | |
19 | 7,350,110 | C | T | false | distal | 1,117 | rs74855385 | 0.000129 | 0.008808 | 35.193 | intron_variant | pELS | ENSG00000104880 | 868 | ENSG00000267852 | 40,411 | 868 | ENSG00000104880 | pELS | ENSG00000104880 | 1,172 | ENSG00000267852 | 44,928 | 1,172 | ENSG00000104880 | distal | NA | NA | |
19 | 7,350,159 | G | A | true | distal | 1,117 | rs62111672 | 0.97892 | Lym | 0.041207 | 23.003 | intron_variant | pELS | ENSG00000104880 | 917 | ENSG00000267852 | 40,362 | 917 | ENSG00000104880 | pELS | ENSG00000104880 | 1,221 | ENSG00000267852 | 44,879 | 1,221 | ENSG00000104880 | distal | NA | NA |
19 | 7,395,046 | G | A | false | tss_proximal | 994 | rs144381311 | 0.000061 | 0.025932 | 17.731 | intron_variant | PLS | ENSG00000104880 | 108 | ENSG00000267852 | 6 | 6 | ENSG00000267852 | tss_proximal | ENSG00000104880 | 108 | ENSG00000267852 | 6 | 6 | ENSG00000267852 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 7,434,556 | A | G | false | distal | 1,092 | rs78290157 | 0.000422 | 0.070941 | 42.515 | intron_variant | dELS | ENSG00000104880 | 5,131 | ENSG00000104880 | 7,162 | 5,131 | ENSG00000104880 | dELS | ENSG00000104880 | 5,131 | ENSG00000104880 | 7,162 | 5,131 | ENSG00000104880 | distal | NA | NA | |
19 | 7,451,184 | C | T | false | synonymous_variant | 1,060 | rs117706799 | 0.001304 | 0.022332 | 142.41 | synonymous_variant | synonymous_variant | ENSG00000104880 | 0 | ENSG00000104880 | 6,754 | 0 | ENSG00000104880 | synonymous_variant | ENSG00000104880 | 11,495 | ENSG00000104880 | 9,464 | 9,464 | ENSG00000104880 | synonymous_variant | NA | NA | |
19 | 7,501,183 | G | A | false | missense_variant | 1,006 | rs139801882 | 0.00005 | 0.036116 | 19.062 | missense_variant | missense_variant | ENSG00000198723 | 0 | ENSG00000198723 | 89 | 0 | ENSG00000198723 | missense_variant | ENSG00000198723 | 1,540 | ENSG00000198723 | 89 | 89 | ENSG00000198723 | missense_variant | NA | NA | |
19 | 7,508,401 | C | T | false | missense_variant | 1,026 | rs1133378 | 0.000093 | 0.3453 | 71.368 | missense_variant | missense_variant | ENSG00000198723 | 0 | ENSG00000198723 | 0 | 0 | ENSG00000198723 | missense_variant | ENSG00000267952 | 1,318 | ENSG00000267952 | 1,348 | 1,318 | ENSG00000267952 | missense_variant | NA | NA | |
19 | 7,537,296 | C | T | false | tss_proximal | 1,096 | rs526411 | 0.000383 | 0.22196 | 45.203 | intron_variant | pELS | ENSG00000032444 | 749 | ENSG00000268614 | 749 | 749 | ENSG00000032444 | tss_proximal | ENSG00000032444 | 1,578 | ENSG00000032444 | 952 | 952 | ENSG00000032444 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 7,543,542 | A | T | false | distal | 1,038 | rs501580 | 0.001288 | 0.33434 | 46.67 | intron_variant | dELS_flank | ENSG00000032444 | 457 | ENSG00000032444 | 457 | 457 | ENSG00000032444 | dELS_flank | ENSG00000032444 | 3,503 | ENSG00000032444 | 1,033 | 1,033 | ENSG00000032444 | distal | NA | NA | |
19 | 7,613,241 | C | T | false | distal | 1,048 | rs794088 | 0.000198 | 0.48524 | 52.582 | intron_variant | dELS_flank | ENSG00000076826 | 77 | ENSG00000076826 | 1,392 | 77 | ENSG00000076826 | dELS_flank | ENSG00000076924 | 16,303 | ENSG00000076826 | 1,392 | 1,392 | ENSG00000076826 | distal | NA | NA | |
19 | 7,707,287 | G | C | false | distal | 1,090 | rs4804774 | 0.000939 | 0.2387 | 32.463 | intergenic_variant | dELS | ENSG00000104921 | 5,140 | ENSG00000104921 | 5,155 | 5,140 | ENSG00000104921 | dELS | ENSG00000104921 | 5,140 | ENSG00000104921 | 5,155 | 5,140 | ENSG00000104921 | distal | NA | NA | |
19 | 7,732,113 | G | A | false | missense_variant | 1,008 | rs184337474 | 0.000206 | 0.008878 | 10.165 | missense_variant | missense_variant | ENSG00000182566 | 0 | ENSG00000288669 | 0 | 0 | ENSG00000182566 | missense_variant | ENSG00000182566 | 2 | ENSG00000182566 | 56 | 2 | ENSG00000182566 | missense_variant | NA | NA | |
19 | 7,762,944 | G | A | true | tss_proximal | 987 | rs571497 | 0.99998 | WBC | 0.15253 | 43.235 | upstream_gene_variant | pELS | ENSG00000104938 | 265 | ENSG00000104938 | 317 | 265 | ENSG00000104938 | tss_proximal | ENSG00000104938 | 265 | ENSG00000104938 | 317 | 265 | ENSG00000104938 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
19 | 7,806,952 | T | G | false | distal | 1,072 | rs2335860 | 0.006352 | 0.11067 | 57.002 | intron_variant | dELS | ENSG00000142459 | 23,265 | ENSG00000269763 | 6,662 | 6,662 | ENSG00000269763 | dELS | ENSG00000142459 | 23,265 | ENSG00000269763 | 7,472 | 7,472 | ENSG00000269763 | distal | NA | NA | |
19 | 7,806,998 | G | A | false | distal | 1,072 | rs4408640 | 0.006076 | 0.11076 | 57.03 | intron_variant | dELS | ENSG00000142459 | 23,219 | ENSG00000269763 | 6,616 | 6,616 | ENSG00000269763 | dELS | ENSG00000142459 | 23,219 | ENSG00000269763 | 7,426 | 7,426 | ENSG00000269763 | distal | NA | NA | |
19 | 7,807,821 | A | G | false | distal | 1,072 | rs73923907 | 0.005943 | 0.11082 | 57.021 | intron_variant | dELS | ENSG00000142459 | 22,396 | ENSG00000269763 | 5,793 | 5,793 | ENSG00000269763 | dELS | ENSG00000142459 | 22,396 | ENSG00000269763 | 6,603 | 6,603 | ENSG00000269763 | distal | NA | NA | |
19 | 7,852,215 | G | C | false | tss_proximal | 1,096 | rs111777172 | 0.000337 | 0.22576 | 89.88 | intron_variant | dELS | ENSG00000142459 | 444 | ENSG00000142459 | 444 | 444 | ENSG00000142459 | tss_proximal | ENSG00000142459 | 2,193 | ENSG00000142459 | 725 | 725 | ENSG00000142459 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 7,870,291 | C | G | false | missense_variant | 1,009 | rs73500088 | 0.000478 | 0.097048 | 52.094 | missense_variant | missense_variant | ENSG00000183248 | 0 | ENSG00000268120 | 269 | 0 | ENSG00000183248 | missense_variant | ENSG00000183248 | 3,305 | ENSG00000268120 | 269 | 269 | ENSG00000268120 | missense_variant | NA | NA | |
19 | 7,871,854 | G | C | false | missense_variant | 1,002 | rs572980152 | 0.000079 | 0.005594 | 14.303 | missense_variant | missense_variant | ENSG00000183248 | 0 | ENSG00000268120 | 557 | 0 | ENSG00000183248 | missense_variant | ENSG00000183248 | 1,742 | ENSG00000268120 | 1,292 | 1,292 | ENSG00000268120 | missense_variant | NA | NA | |
19 | 7,907,730 | A | G | true | distal | 1,076 | rs8107967 | 0.96588 | SHBG | 0.43216 | 63.751 | intron_variant | dELS | ENSG00000076984 | 1,874 | ENSG00000076984 | 663 | 663 | ENSG00000076984 | dELS | ENSG00000076984 | 3,844 | ENSG00000076984 | 2,345 | 2,345 | ENSG00000076984 | distal | NA | NA |
19 | 7,908,511 | A | C | false | distal | 1,041 | rs73501919 | 0.004051 | 0.27056 | 65.466 | intron_variant | dELS_flank | ENSG00000076984 | 1,243 | ENSG00000076984 | 1,243 | 1,243 | ENSG00000076984 | dELS_flank | ENSG00000076984 | 4,625 | ENSG00000076984 | 1,564 | 1,564 | ENSG00000076984 | distal | NA | NA | |
19 | 7,908,845 | G | A | false | distal | 1,041 | rs73501921 | 0.00381 | 0.27062 | 65.505 | intron_variant | dELS_flank | ENSG00000076984 | 909 | ENSG00000076984 | 909 | 909 | ENSG00000076984 | dELS_flank | ENSG00000076984 | 4,959 | ENSG00000076984 | 1,230 | 1,230 | ENSG00000076984 | distal | NA | NA | |
19 | 7,909,446 | T | G | false | tss_proximal | 1,096 | rs56249748 | 0.000227 | 0.22394 | 72.241 | intron_variant | dELS_flank | ENSG00000076984 | 308 | ENSG00000076984 | 308 | 308 | ENSG00000076984 | tss_proximal | ENSG00000260001 | 5,383 | ENSG00000076984 | 629 | 629 | ENSG00000076984 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 7,931,033 | C | A | false | tss_proximal | 1,096 | rs4804241 | 0.000132 | 0.22277 | 115.79 | intron_variant | dELS | ENSG00000104980 | 104 | ENSG00000104980 | 104 | 104 | ENSG00000104980 | tss_proximal | ENSG00000104980 | 1,712 | ENSG00000104980 | 347 | 347 | ENSG00000104980 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 7,934,682 | G | A | false | tss_proximal | 1,096 | rs9676352 | 0.000134 | 0.2241 | 115.7 | intron_variant | dELS | ENSG00000104980 | 382 | ENSG00000104980 | 382 | 382 | ENSG00000104980 | tss_proximal | ENSG00000104980 | 1,935 | ENSG00000104980 | 729 | 729 | ENSG00000104980 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 7,934,830 | G | C | false | tss_proximal | 1,096 | rs9676369 | 0.000134 | 0.22413 | 115.69 | intron_variant | dELS | ENSG00000104980 | 234 | ENSG00000104980 | 234 | 234 | ENSG00000104980 | tss_proximal | ENSG00000104980 | 2,083 | ENSG00000104980 | 877 | 877 | ENSG00000104980 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 7,935,219 | A | G | false | missense_variant | 1,010 | rs3745387 | 0.000147 | 0.46764 | 105.42 | missense_variant | missense_variant | ENSG00000104980 | 73 | ENSG00000104980 | 0 | 0 | ENSG00000104980 | missense_variant | ENSG00000104980 | 2,472 | ENSG00000104980 | 1,266 | 1,266 | ENSG00000104980 | missense_variant | NA | NA | |
19 | 7,935,842 | A | G | false | distal | 1,039 | rs35065193 | 0.00009 | 0.072592 | 128.97 | intron_variant | dELS_flank | ENSG00000104980 | 696 | ENSG00000104980 | 588 | 588 | ENSG00000104980 | dELS_flank | ENSG00000104980 | 3,095 | ENSG00000104980 | 1,889 | 1,889 | ENSG00000104980 | distal | NA | NA | |
19 | 7,938,136 | T | C | false | missense_variant | 1,029 | rs117812409 | 0.000078 | 0.01252 | 24.872 | missense_variant | missense_variant | ENSG00000104980 | 0 | ENSG00000104980 | 0 | 0 | ENSG00000104980 | missense_variant | ENSG00000104980 | 5,389 | ENSG00000104980 | 4,183 | 4,183 | ENSG00000104980 | missense_variant | NA | NA | |
19 | 7,938,155 | C | T | false | missense_variant | 1,029 | rs144317041 | 0.000317 | 0.014795 | 14.16 | missense_variant | missense_variant | ENSG00000104980 | 0 | ENSG00000104980 | 0 | 0 | ENSG00000104980 | missense_variant | ENSG00000104980 | 5,408 | ENSG00000104980 | 4,202 | 4,202 | ENSG00000104980 | missense_variant | NA | NA | |
19 | 7,941,478 | C | G | false | distal | 1,039 | rs35406105 | 0.000096 | 0.072592 | 129.08 | intron_variant | dELS_flank | ENSG00000104980 | 280 | ENSG00000104980 | 280 | 280 | ENSG00000104980 | dELS_flank | ENSG00000104980 | 2,172 | ENSG00000104980 | 2,156 | 2,156 | ENSG00000104980 | distal | NA | NA | |
19 | 7,986,560 | G | A | false | distal | 1,089 | rs529280370 | 0.000052 | 0.001103 | 4.6419 | intron_variant | dELS | ENSG00000066044 | 5,083 | ENSG00000066044 | 12,774 | 5,083 | ENSG00000066044 | dELS | ENSG00000066044 | 5,447 | ENSG00000066044 | 12,774 | 5,447 | ENSG00000066044 | distal | NA | NA | |
19 | 8,000,054 | A | G | false | distal | 1,066 | rs12978737 | 0.000149 | 0.28476 | 142.86 | intron_variant | dELS | ENSG00000066044 | 1,997 | ENSG00000289255 | 5,737 | 1,997 | ENSG00000066044 | dELS | ENSG00000066044 | 2,148 | ENSG00000289255 | 5,737 | 2,148 | ENSG00000066044 | distal | NA | NA | |
19 | 8,054,066 | G | A | false | missense_variant | 1,024 | rs3826741 | 0.000448 | 0.15427 | 54.516 | missense_variant | missense_variant | ENSG00000131142 | 0 | ENSG00000131142 | 943 | 0 | ENSG00000131142 | missense_variant | ENSG00000131142 | 1,065 | ENSG00000131142 | 1,015 | 1,015 | ENSG00000131142 | missense_variant | NA | NA | |
19 | 8,054,172 | C | T | false | 3_prime_UTR_variant | 1,108 | rs3136652 | 0.000186 | 0.17153 | 53.952 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000131142 | 0 | ENSG00000131142 | 1,049 | 0 | ENSG00000131142 | 3_prime_UTR_variant | ENSG00000131142 | 1,171 | ENSG00000131142 | 1,121 | 1,121 | ENSG00000131142 | 3_prime_UTR_variant | NA | NA | |
19 | 8,055,614 | A | G | false | distal | 1,049 | rs62124688 | 0.001324 | 0.1651 | 51.135 | intron_variant | dELS_flank | ENSG00000131142 | 537 | ENSG00000131142 | 537 | 537 | ENSG00000131142 | dELS_flank | ENSG00000131142 | 2,613 | ENSG00000131142 | 2,563 | 2,563 | ENSG00000131142 | distal | NA | NA | |
19 | 8,058,625 | G | A | false | distal | 1,120 | rs190773702 | 0.000172 | 0.20901 | 59.364 | intron_variant | CA-TF_flank | ENSG00000131142 | 704 | ENSG00000131142 | 704 | 704 | ENSG00000131142 | CA-TF_flank | ENSG00000131142 | 5,624 | ENSG00000131142 | 5,574 | 5,574 | ENSG00000131142 | distal | NA | NA | |
19 | 8,082,666 | G | A | false | distal | 1,048 | rs12608618 | 0.000068 | 0.49857 | 89.131 | intron_variant | dELS_flank | ENSG00000142449 | 580 | ENSG00000142449 | 1,609 | 580 | ENSG00000142449 | dELS_flank | ENSG00000142449 | 7,566 | ENSG00000142449 | 1,609 | 1,609 | ENSG00000142449 | distal | NA | NA | |
19 | 8,083,011 | T | C | false | distal | 1,041 | rs62124731 | 0.000055 | 0.2642 | 68.67 | intron_variant | dELS_flank | ENSG00000142449 | 235 | ENSG00000142449 | 1,954 | 235 | ENSG00000142449 | dELS_flank | ENSG00000142449 | 7,221 | ENSG00000142449 | 1,954 | 1,954 | ENSG00000142449 | distal | NA | NA | |
19 | 8,118,987 | G | A | false | missense_variant | 1,012 | rs35579498 | 0.000099 | 0.037385 | 24.966 | missense_variant | missense_variant | ENSG00000142449 | 0 | ENSG00000142449 | 7,180 | 0 | ENSG00000142449 | missense_variant | ENSG00000142449 | 18,018 | ENSG00000142449 | 7,180 | 7,180 | ENSG00000142449 | missense_variant | NA | NA | |
19 | 8,258,425 | C | G | false | distal | 1,048 | rs36251 | 0.000115 | 0.49661 | 45.544 | intron_variant | dELS_flank | ENSG00000090661 | 439 | ENSG00000090661 | 439 | 439 | ENSG00000090661 | dELS_flank | ENSG00000090661 | 33,397 | ENSG00000090661 | 2,571 | 2,571 | ENSG00000090661 | distal | NA | NA | |
19 | 8,324,839 | T | A | false | splicing | 1,132 | rs2972571 | 0.000256 | 0.22569 | 86.458 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000186994 | 8 | ENSG00000233927 | 1,892 | 8 | ENSG00000186994 | splice_polypyrimidine_tract_variant | ENSG00000233927 | 3,342 | ENSG00000233927 | 3,204 | 3,204 | ENSG00000233927 | splicing | NA | splicing:b1 | |
19 | 8,336,757 | G | A | false | distal | 1,081 | rs10406333 | 0.000927 | 0.28073 | 59.836 | intron_variant | dELS | ENSG00000186994 | 964 | ENSG00000186994 | 1,974 | 964 | ENSG00000186994 | dELS | ENSG00000186994 | 6,504 | ENSG00000186994 | 1,974 | 1,974 | ENSG00000186994 | distal | NA | NA | |
19 | 8,364,439 | G | A | true | missense_variant | 1,005 | rs116843064 | 1 | ApoA,HDLC,TG | 0.019418 | 21.425 | missense_variant | missense_variant | ENSG00000167772 | 0 | ENSG00000167772 | 0 | 0 | ENSG00000167772 | missense_variant | ENSG00000167772 | 40 | ENSG00000167772 | 269 | 40 | ENSG00000167772 | missense_variant | NA | NA |
19 | 8,387,821 | C | G | false | distal | 997 | rs62117512 | 0.00591 | 0.30438 | 88.547 | intron_variant | pELS_flank | ENSG00000185236 | 2,159 | ENSG00000265390 | 1,468 | 1,468 | ENSG00000265390 | pELS_flank | ENSG00000185236 | 2,159 | ENSG00000265390 | 1,558 | 1,558 | ENSG00000265390 | distal | NA | NA | |
19 | 8,488,039 | G | A | false | missense_variant | 1,001 | rs78760276 | 0.000115 | 0.009962 | 29.692 | missense_variant | missense_variant | ENSG00000099783 | 0 | ENSG00000099783 | 0 | 0 | ENSG00000099783 | missense_variant | ENSG00000099783 | 1,880 | ENSG00000099783 | 736 | 736 | ENSG00000099783 | missense_variant | NA | NA | |
19 | 8,491,479 | C | T | false | non_coding_transcript_exon_variant | 978 | rs7408912 | 0.002453 | 0.39645 | 85.213 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000133246 | 321 | ENSG00000133246 | 0 | 0 | ENSG00000133246 | non_coding_transcript_exon_variant | ENSG00000099783 | 5,320 | ENSG00000133246 | 543 | 543 | ENSG00000133246 | non_coding_transcript_exon_variant | NA | NA | |
19 | 8,499,404 | C | T | false | missense_variant | 1,019 | rs58466313 | 0.000344 | 0.003711 | 24.616 | missense_variant | missense_variant | ENSG00000133246 | 0 | ENSG00000133246 | 7,380 | 0 | ENSG00000133246 | missense_variant | ENSG00000133246 | 3,229 | ENSG00000133246 | 7,380 | 3,229 | ENSG00000133246 | missense_variant | NA | NA | |
19 | 8,509,824 | T | A | false | 3_prime_UTR_variant | 1,108 | rs60891312 | 0.008486 | 0.16658 | 114.73 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000133250 | 0 | ENSG00000133250 | 1,153 | 0 | ENSG00000133250 | 3_prime_UTR_variant | ENSG00000133250 | 1,874 | ENSG00000133250 | 1,981 | 1,874 | ENSG00000133250 | 3_prime_UTR_variant | NA | NA | |
19 | 8,510,010 | A | G | false | 3_prime_UTR_variant | 1,108 | rs11667185 | 0.008345 | 0.16658 | 114.73 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000133250 | 0 | ENSG00000133250 | 967 | 0 | ENSG00000133250 | 3_prime_UTR_variant | ENSG00000133250 | 1,688 | ENSG00000133250 | 1,795 | 1,688 | ENSG00000133250 | 3_prime_UTR_variant | NA | NA | |
19 | 8,510,234 | G | C | false | 3_prime_UTR_variant | 1,108 | rs11671768 | 0.00819 | 0.1666 | 114.72 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000133250 | 0 | ENSG00000133250 | 743 | 0 | ENSG00000133250 | 3_prime_UTR_variant | ENSG00000133250 | 1,464 | ENSG00000133250 | 1,571 | 1,464 | ENSG00000133250 | 3_prime_UTR_variant | NA | NA | |
19 | 8,514,649 | C | G | false | tss_proximal | 988 | rs6603087 | 0.0004 | 0.47631 | 74.777 | upstream_gene_variant | pELS | ENSG00000133250 | 481 | ENSG00000133250 | 484 | 481 | ENSG00000133250 | tss_proximal | ENSG00000133250 | 481 | ENSG00000133250 | 484 | 481 | ENSG00000133250 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 8,555,069 | C | T | false | tss_proximal | 1,095 | rs143108385 | 0.000157 | 0.008977 | 63.434 | intron_variant | dELS_flank | ENSG00000142347 | 325 | ENSG00000142347 | 322 | 322 | ENSG00000142347 | tss_proximal | ENSG00000142347 | 22,368 | ENSG00000142347 | 504 | 504 | ENSG00000142347 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 8,592,141 | G | A | false | missense_variant | 1,008 | rs73922162 | 0.000313 | 0.007395 | 29.286 | missense_variant | missense_variant | ENSG00000142303 | 0 | ENSG00000142303 | 0 | 0 | ENSG00000142303 | missense_variant | ENSG00000142303 | 54 | ENSG00000142303 | 32 | 32 | ENSG00000142303 | missense_variant | NA | NA | |
19 | 8,595,120 | G | A | false | distal | 1,052 | rs3936234 | 0.000165 | 0.41961 | 31.889 | intron_variant | dELS_flank | ENSG00000142303 | 641 | ENSG00000142303 | 492 | 492 | ENSG00000142303 | dELS_flank | ENSG00000142303 | 2,923 | ENSG00000142303 | 1,236 | 1,236 | ENSG00000142303 | distal | NA | NA | |
19 | 8,605,262 | C | T | true | missense_variant | 1,006 | rs62621197 | 1 | BW,Carpal_Tunnel_Syndrome,Height | 0.036479 | 14.281 | missense_variant | missense_variant | ENSG00000142303 | 0 | ENSG00000142303 | 0 | 0 | ENSG00000142303 | missense_variant | ENSG00000142303 | 3,002 | ENSG00000142303 | 516 | 516 | ENSG00000142303 | missense_variant | NA | NA |
19 | 8,802,153 | A | G | false | distal | 1,045 | rs2918292 | 0.00012 | 0.30751 | 107.53 | intergenic_variant | dELS_flank | ENSG00000167785 | 4,016 | ENSG00000167785 | 8,784 | 4,016 | ENSG00000167785 | dELS_flank | ENSG00000167785 | 20,735 | ENSG00000269300 | 19,347 | 19,347 | ENSG00000269300 | distal | NA | NA | |
19 | 8,836,522 | T | C | false | distal | 1,120 | rs12973492 | 0.000353 | 0.2133 | 109.44 | intron_variant | CA-TF_flank | ENSG00000170948 | 3,999 | ENSG00000269400 | 2,980 | 2,980 | ENSG00000269400 | CA-TF_flank | ENSG00000170948 | 4,144 | ENSG00000269400 | 3,456 | 3,456 | ENSG00000269400 | distal | NA | NA | |
19 | 8,889,761 | C | T | false | splicing | 1,119 | rs200335034 | 0.000031 | 0.001313 | 6.3494 | splice_donor_5th_base_variant | splice_donor_5th_base_variant | ENSG00000181143 | 4 | ENSG00000181143 | 4 | 4 | ENSG00000181143 | splice_donor_5th_base_variant | ENSG00000181143 | 6,328 | ENSG00000181143 | 2,235 | 2,235 | ENSG00000181143 | splicing | NA | splicing:b0 | |
19 | 8,892,234 | A | G | false | tss_proximal | 1,097 | rs12985020 | 0.00005 | 0.07891 | 61.655 | intron_variant | CA-H3K4me3_flank | ENSG00000181143 | 236 | ENSG00000181143 | 236 | 236 | ENSG00000181143 | tss_proximal | ENSG00000181143 | 3,855 | ENSG00000181143 | 236 | 236 | ENSG00000181143 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 8,900,736 | C | T | false | missense_variant | 1,035 | rs114676657 | 0.000191 | 0.022776 | 8.0056 | missense_variant | missense_variant | ENSG00000181143 | 0 | ENSG00000181143 | 4,645 | 0 | ENSG00000181143 | missense_variant | ENSG00000181143 | 4,645 | ENSG00000181143 | 4,645 | 4,645 | ENSG00000181143 | missense_variant | NA | NA | |
19 | 9,043,133 | T | C | false | distal | 1,047 | rs4553734 | 0.000029 | 0.23008 | 61.732 | intergenic_variant | dELS_flank | ENSG00000170929 | 43,927 | ENSG00000267332 | 23,148 | 23,148 | ENSG00000267332 | dELS_flank | ENSG00000170929 | 43,927 | ENSG00000267332 | 23,788 | 23,788 | ENSG00000267332 | distal | NA | NA | |
19 | 9,050,320 | A | G | false | distal | 1,085 | rs8112307 | 0.000316 | 0.41222 | 113.4 | intergenic_variant | dELS | ENSG00000170929 | 36,740 | ENSG00000267332 | 30,335 | 30,335 | ENSG00000267332 | dELS | ENSG00000170929 | 36,740 | ENSG00000267332 | 30,975 | 30,975 | ENSG00000267332 | distal | NA | NA | |
19 | 9,053,331 | G | A | false | distal | 1,085 | rs12462377 | 0.000249 | 0.40817 | 114.12 | intergenic_variant | dELS | ENSG00000170929 | 33,729 | ENSG00000267154 | 29,780 | 29,780 | ENSG00000267154 | dELS | ENSG00000170929 | 33,729 | ENSG00000267154 | 30,066 | 30,066 | ENSG00000267154 | distal | NA | NA | |
19 | 9,053,880 | A | G | false | distal | 1,085 | rs9677030 | 0.000248 | 0.40816 | 114.12 | intergenic_variant | dELS | ENSG00000170929 | 33,180 | ENSG00000267154 | 29,231 | 29,231 | ENSG00000267154 | dELS | ENSG00000170929 | 33,180 | ENSG00000267154 | 29,517 | 29,517 | ENSG00000267154 | distal | NA | NA | |
19 | 9,055,109 | G | C | false | distal | 1,085 | rs60841040 | 0.00026 | 0.40614 | 113.84 | intergenic_variant | dELS | ENSG00000170929 | 31,951 | ENSG00000267154 | 28,002 | 28,002 | ENSG00000267154 | dELS | ENSG00000170929 | 31,951 | ENSG00000267154 | 28,288 | 28,288 | ENSG00000267154 | distal | NA | NA | |
19 | 9,056,150 | A | G | false | distal | 1,047 | rs10416190 | 0.000035 | 0.23598 | 148.57 | intergenic_variant | dELS_flank | ENSG00000170929 | 30,910 | ENSG00000267154 | 26,961 | 26,961 | ENSG00000267154 | dELS_flank | ENSG00000170929 | 30,910 | ENSG00000267154 | 27,247 | 27,247 | ENSG00000267154 | distal | NA | NA | |
19 | 9,057,753 | G | A | false | distal | 1,047 | rs13346066 | 0.000035 | 0.23594 | 148.61 | intergenic_variant | dELS_flank | ENSG00000170929 | 29,307 | ENSG00000267154 | 25,358 | 25,358 | ENSG00000267154 | dELS_flank | ENSG00000170929 | 29,307 | ENSG00000267154 | 25,644 | 25,644 | ENSG00000267154 | distal | NA | NA | |
19 | 9,057,910 | T | C | false | distal | 1,047 | rs13345002 | 0.000035 | 0.23598 | 148.57 | intergenic_variant | dELS_flank | ENSG00000170929 | 29,150 | ENSG00000267154 | 25,201 | 25,201 | ENSG00000267154 | dELS_flank | ENSG00000170929 | 29,150 | ENSG00000267154 | 25,487 | 25,487 | ENSG00000267154 | distal | NA | NA | |
19 | 9,058,364 | A | T | false | distal | 1,047 | rs10418376 | 0.000035 | 0.23564 | 148.56 | intergenic_variant | dELS_flank | ENSG00000170929 | 28,696 | ENSG00000267154 | 24,747 | 24,747 | ENSG00000267154 | dELS_flank | ENSG00000170929 | 28,696 | ENSG00000267154 | 25,033 | 25,033 | ENSG00000267154 | distal | NA | NA | |
19 | 9,058,588 | G | A | false | distal | 1,047 | rs10419139 | 0.000034 | 0.23265 | 146.6 | intergenic_variant | dELS_flank | ENSG00000170929 | 28,472 | ENSG00000267154 | 24,523 | 24,523 | ENSG00000267154 | dELS_flank | ENSG00000170929 | 28,472 | ENSG00000267154 | 24,809 | 24,809 | ENSG00000267154 | distal | NA | NA |
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