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 | 160,969,654 | A | G | false | distal | 156 | rs10908818 | 0.000664 | 0.32132 | 132.76 | intergenic_variant | intergenic_variant | ENSG00000158764 | 14,844 | ENSG00000158764 | 18,179 | 14,844 | ENSG00000158764 | intergenic_variant | ENSG00000158764 | 14,844 | ENSG00000158764 | 18,179 | 14,844 | ENSG00000158764 | distal | NA | NA | |
1 | 160,970,979 | A | C | false | distal | 17 | rs575702091 | 0.00003 | 0.010809 | 25.604 | intergenic_variant | dELS_flank | ENSG00000158764 | 16,169 | ENSG00000158764 | 19,504 | 16,169 | ENSG00000158764 | dELS_flank | ENSG00000158764 | 16,169 | ENSG00000158764 | 19,504 | 16,169 | ENSG00000158764 | distal | NA | NA | |
1 | 161,162,987 | G | A | false | missense_variant | 108 | rs17356051 | 0.000342 | 0.064995 | 36.174 | missense_variant | missense_variant | ENSG00000143258 | 0 | ENSG00000143258 | 0 | 0 | ENSG00000143258 | missense_variant | ENSG00000143258 | 1,243 | ENSG00000143258 | 362 | 362 | ENSG00000143258 | missense_variant | NA | NA | |
1 | 161,169,948 | G | A | false | missense_variant | 108 | rs36013429 | 0.000104 | 0.065122 | 98.364 | missense_variant | missense_variant | ENSG00000143224 | 0 | ENSG00000143224 | 0 | 0 | ENSG00000143224 | missense_variant | ENSG00000143224 | 262 | ENSG00000143224 | 274 | 262 | ENSG00000143224 | missense_variant | NA | NA | |
1 | 161,219,103 | T | G | true | 3_prime_UTR_variant | 133 | rs3557 | 0.997915 | Plt | 0.090434 | 65.775 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000158869 | 0 | ENSG00000158869 | 0 | 0 | ENSG00000158869 | 3_prime_UTR_variant | ENSG00000158869 | 3,807 | ENSG00000158869 | 3,868 | 3,807 | ENSG00000158869 | 3_prime_UTR_variant | NA | NA |
1 | 161,222,982 | C | T | false | missense_variant | 110 | rs142522492 | 0.000075 | 0.000784 | 6.307 | missense_variant | missense_variant | ENSG00000158874 | 0 | ENSG00000158874 | 0 | 0 | ENSG00000158874 | missense_variant | ENSG00000158874 | 425 | ENSG00000158874 | 442 | 425 | ENSG00000158874 | missense_variant | NA | NA | |
1 | 161,440,910 | C | G | false | non_coding_transcript_exon_variant | 119 | rs536155354 | 0.000092 | 0.060559 | 146.74 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000143226 | 64,519 | ENSG00000283317 | 0 | 0 | ENSG00000283317 | non_coding_transcript_exon_variant | ENSG00000143226 | 64,519 | ENSG00000283317 | 85 | 85 | ENSG00000283317 | non_coding_transcript_exon_variant | NA | NA | |
1 | 161,440,913 | C | T | false | non_coding_transcript_exon_variant | 119 | rs553259231 | 0.000092 | 0.060559 | 146.74 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000143226 | 64,516 | ENSG00000283317 | 0 | 0 | ENSG00000283317 | non_coding_transcript_exon_variant | ENSG00000143226 | 64,516 | ENSG00000283317 | 82 | 82 | ENSG00000283317 | non_coding_transcript_exon_variant | NA | NA | |
1 | 161,514,385 | G | T | false | tss_proximal | 139 | rs6427596 | 0.000057 | 0.31705 | 99.542 | intron_variant | pELS_flank | ENSG00000143226 | 452 | ENSG00000143226 | 234 | 234 | ENSG00000143226 | tss_proximal | ENSG00000143226 | 486 | ENSG00000143226 | 234 | 234 | ENSG00000143226 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 161,524,532 | A | C | true | tss_proximal | 174 | rs9427403 | 0.97603 | RBC | 0.18266 | 88.411 | upstream_gene_variant | PLS_flank | ENSG00000173110 | 7 | ENSG00000143226 | 518 | 7 | ENSG00000173110 | tss_proximal | ENSG00000173110 | 7 | ENSG00000289273 | 5,826 | 7 | ENSG00000173110 | tss_proximal | tss_prox:b0 | tss_prox:b0 |
1 | 161,525,250 | C | T | false | missense_variant | 83 | rs1079109 | 0.005653 | 0.10787 | 90.931 | missense_variant | missense_variant | ENSG00000173110 | 0 | ENSG00000143226 | 1,236 | 0 | ENSG00000173110 | missense_variant | ENSG00000173110 | 709 | ENSG00000289273 | 6,544 | 709 | ENSG00000173110 | missense_variant | NA | NA | |
1 | 161,621,318 | G | A | false | distal | 153 | rs148948376 | 0.004026 | 0.35434 | 199.46 | intergenic_variant | pELS | ENSG00000162747 | 1,877 | ENSG00000231586 | 1,732 | 1,732 | ENSG00000231586 | pELS | ENSG00000162747 | 9,713 | ENSG00000231586 | 1,732 | 1,732 | ENSG00000231586 | distal | NA | NA | |
1 | 161,624,041 | C | T | false | 3_prime_UTR_variant | 133 | rs72702127 | 0.000342 | 0.096873 | 113 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000162747 | 0 | ENSG00000162747 | 0 | 0 | ENSG00000162747 | 3_prime_UTR_variant | ENSG00000162747 | 6,990 | ENSG00000231586 | 4,455 | 4,455 | ENSG00000231586 | 3_prime_UTR_variant | NA | NA | |
1 | 161,629,989 | G | C | true | missense_variant | 105 | rs200688856 | 1 | Baso,Mono | 0.33967 | 192.05 | missense_variant | missense_variant | ENSG00000162747 | 0 | ENSG00000162747 | 0 | 0 | ENSG00000162747 | missense_variant | ENSG00000162747 | 1,042 | ENSG00000162747 | 1,148 | 1,042 | ENSG00000162747 | missense_variant | NA | NA |
1 | 161,722,132 | T | C | false | tss_proximal | 138 | rs905592 | 0.000254 | 0.21066 | 98.228 | intron_variant | pELS | ENSG00000162746 | 281 | ENSG00000162746 | 3,768 | 281 | ENSG00000162746 | tss_proximal | ENSG00000162746 | 526 | ENSG00000162746 | 3,768 | 526 | ENSG00000162746 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 161,738,404 | T | G | true | distal | 20 | rs10799941 | 0.99545 | ALP | 0.043105 | 49.126 | intergenic_variant | dELS_flank | ENSG00000162746 | 10,260 | ENSG00000241347 | 2,301 | 2,301 | ENSG00000241347 | dELS_flank | ENSG00000081721 | 11,381 | ENSG00000241347 | 2,595 | 2,595 | ENSG00000241347 | distal | NA | NA |
1 | 161,790,918 | C | T | false | distal | 49 | rs12045333 | 0.000107 | 0.087239 | 292.04 | intron_variant | dELS | ENSG00000118217 | 489 | ENSG00000118217 | 489 | 489 | ENSG00000118217 | dELS | ENSG00000118217 | 24,353 | ENSG00000118217 | 24,575 | 24,353 | ENSG00000118217 | distal | NA | NA | |
1 | 161,791,062 | A | G | false | distal | 37 | rs12046823 | 0.000137 | 0.073225 | 236.78 | intron_variant | dELS | ENSG00000118217 | 345 | ENSG00000118217 | 345 | 345 | ENSG00000118217 | dELS | ENSG00000118217 | 24,497 | ENSG00000118217 | 24,719 | 24,497 | ENSG00000118217 | distal | NA | NA | |
1 | 161,967,727 | T | C | false | distal | 130 | rs2490437 | 0.002515 | 0.38159 | 93.904 | intron_variant | CA | ENSG00000118217 | 3,656 | ENSG00000118217 | 7,458 | 3,656 | ENSG00000118217 | CA | ENSG00000162745 | 17,504 | ENSG00000162745 | 16,213 | 16,213 | ENSG00000162745 | distal | NA | NA | |
1 | 162,059,263 | G | C | false | distal | 159 | rs10918588 | 0.0039 | 0.33731 | 191.64 | intergenic_variant | intergenic_variant | ENSG00000198929 | 10,427 | ENSG00000198929 | 10,826 | 10,427 | ENSG00000198929 | intergenic_variant | ENSG00000198929 | 10,427 | ENSG00000198929 | 10,826 | 10,427 | ENSG00000198929 | distal | NA | NA | |
1 | 162,070,515 | C | A | false | tss_proximal | 142 | rs12096347 | 0.000787 | 0.2791 | 165.88 | intron_variant | pELS | ENSG00000198929 | 232 | ENSG00000198929 | 232 | 232 | ENSG00000198929 | tss_proximal | ENSG00000198929 | 740 | ENSG00000198929 | 424 | 424 | ENSG00000198929 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 162,156,654 | A | G | false | tss_proximal | 179 | rs951121 | 0.000066 | 0.16225 | 99.371 | intron_variant | PLS_flank | ENSG00000198929 | 2,177 | ENSG00000266144 | 452 | 452 | ENSG00000266144 | tss_proximal | ENSG00000198929 | 86,879 | ENSG00000266144 | 452 | 452 | ENSG00000266144 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 162,157,963 | G | A | false | tss_proximal | 178 | rs75259475 | 0.000056 | 0.028542 | 14.459 | intron_variant | pELS_flank | ENSG00000198929 | 3,486 | ENSG00000266144 | 780 | 780 | ENSG00000266144 | tss_proximal | ENSG00000198929 | 88,188 | ENSG00000266144 | 855 | 855 | ENSG00000266144 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 162,381,664 | A | G | false | tss_proximal | 174 | rs12407972 | 0.000778 | 0.16216 | 58.557 | intron_variant | PLS | ENSG00000239887 | 63 | ENSG00000254706 | 226 | 63 | ENSG00000239887 | tss_proximal | ENSG00000239887 | 63 | ENSG00000171722 | 4,855 | 63 | ENSG00000239887 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 162,575,810 | C | T | false | distal | 38 | rs12138702 | 0.000045 | 0.48728 | 107.16 | intron_variant | dELS | ENSG00000117143 | 966 | ENSG00000117143 | 5,620 | 966 | ENSG00000117143 | dELS | ENSG00000117143 | 14,087 | ENSG00000117143 | 5,620 | 5,620 | ENSG00000117143 | distal | NA | NA | |
1 | 162,626,578 | C | G | false | distal | 62 | rs2342699 | 0.000147 | 0.39115 | 60.13 | intergenic_variant | dELS | ENSG00000162733 | 4,794 | ENSG00000162733 | 5,858 | 4,794 | ENSG00000162733 | dELS | ENSG00000162733 | 4,794 | ENSG00000162733 | 5,858 | 4,794 | ENSG00000162733 | distal | NA | NA | |
1 | 162,654,794 | T | C | false | distal | 49 | rs6692297 | 0.000328 | 0.10501 | 115.7 | intron_variant | dELS | ENSG00000162733 | 416 | ENSG00000162733 | 416 | 416 | ENSG00000162733 | dELS | ENSG00000162733 | 22,328 | ENSG00000162733 | 22,347 | 22,328 | ENSG00000162733 | distal | NA | NA | |
1 | 162,656,850 | A | T | false | distal | 49 | rs10917582 | 0.000076 | 0.10014 | 110.12 | intron_variant | dELS | ENSG00000162733 | 1,475 | ENSG00000162733 | 1,475 | 1,475 | ENSG00000162733 | dELS | ENSG00000162733 | 24,384 | ENSG00000162733 | 24,403 | 24,384 | ENSG00000162733 | distal | NA | NA | |
1 | 162,823,992 | T | C | false | tss_proximal | 182 | rs58273469 | 0.000054 | 0.017882 | 78.841 | upstream_gene_variant | pELS | ENSG00000132196 | 11,168 | ENSG00000185860 | 465 | 465 | ENSG00000185860 | tss_proximal | ENSG00000132196 | 33,268 | ENSG00000230739 | 802 | 802 | ENSG00000230739 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 162,856,541 | A | C | false | tss_proximal | 165 | rs12132001 | 0.000475 | 0.20085 | 71.733 | intron_variant | dELS | ENSG00000185860 | 782 | ENSG00000185860 | 594 | 594 | ENSG00000185860 | tss_proximal | ENSG00000185860 | 3,122 | ENSG00000185860 | 594 | 594 | ENSG00000185860 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
1 | 163,012,712 | T | C | false | distal | 157 | rs2842004 | 0.000878 | 0.26174 | 44.602 | intergenic_variant | intergenic_variant | ENSG00000117152 | 56,062 | ENSG00000227667 | 32,918 | 32,918 | ENSG00000227667 | intergenic_variant | ENSG00000117152 | 56,062 | ENSG00000227667 | 32,918 | 32,918 | ENSG00000227667 | distal | NA | NA | |
1 | 163,173,238 | C | T | false | distal | 51 | rs55941230 | 0.001644 | 0.15069 | 91.899 | intron_variant | dELS | ENSG00000143248 | 645 | ENSG00000143248 | 4,869 | 645 | ENSG00000143248 | dELS | ENSG00000143248 | 29,596 | ENSG00000232892 | 11,562 | 11,562 | ENSG00000232892 | distal | NA | NA | |
1 | 164,589,690 | G | A | true | tss_proximal | 176 | rs1780334 | 0.97176 | Lym | 0.46405 | 36.168 | intron_variant | dELS | ENSG00000185630 | 26,378 | ENSG00000185630 | 659 | 659 | ENSG00000185630 | tss_proximal | ENSG00000185630 | 26,884 | ENSG00000185630 | 659 | 659 | ENSG00000185630 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
1 | 164,617,415 | T | G | false | distal | 25 | rs17382325 | 0.000513 | 0.24354 | 43.741 | intron_variant | dELS_flank | ENSG00000185630 | 8,590 | ENSG00000185630 | 8,513 | 8,513 | ENSG00000185630 | dELS_flank | ENSG00000185630 | 8,590 | ENSG00000185630 | 8,620 | 8,590 | ENSG00000185630 | distal | NA | NA | |
1 | 165,412,371 | A | T | false | distal | 170 | rs157862 | 0.000021 | 0.15576 | 35.667 | intron_variant | CA-CTCF_flank | ENSG00000143171 | 1,261 | ENSG00000143171 | 1,261 | 1,261 | ENSG00000143171 | CA-CTCF_flank | ENSG00000143171 | 32,754 | ENSG00000143171 | 12,600 | 12,600 | ENSG00000143171 | distal | NA | NA | |
1 | 165,548,492 | C | T | false | distal | 57 | rs285439 | 0.000042 | 0.13344 | 91.459 | intron_variant | dELS | ENSG00000162763 | 3,573 | ENSG00000237463 | 1,618 | 1,618 | ENSG00000237463 | dELS | ENSG00000162763 | 4,491 | ENSG00000237463 | 1,618 | 1,618 | ENSG00000237463 | distal | NA | NA | |
1 | 165,633,287 | A | G | false | distal | 151 | rs4147598 | 0.000022 | 0.10034 | 95.538 | intron_variant | pELS | ENSG00000143198 | 1,012 | ENSG00000143198 | 1,993 | 1,012 | ENSG00000143198 | pELS | ENSG00000143198 | 1,046 | ENSG00000143198 | 2,028 | 1,046 | ENSG00000143198 | distal | NA | NA | |
1 | 165,638,943 | C | A | false | distal | 19 | rs75792549 | 0.000024 | 0.1069 | 45.326 | intron_variant | dELS_flank | ENSG00000143198 | 3,120 | ENSG00000143198 | 1,793 | 1,793 | ENSG00000143198 | dELS_flank | ENSG00000143198 | 6,702 | ENSG00000143198 | 6,717 | 6,702 | ENSG00000143198 | distal | NA | NA | |
1 | 165,884,330 | C | G | false | distal | 30 | rs55774748 | 0.000033 | 0.053733 | 37.751 | intron_variant | dELS | ENSG00000143179 | 811 | ENSG00000236364 | 5,394 | 811 | ENSG00000143179 | dELS | ENSG00000143179 | 11,239 | ENSG00000143179 | 8,321 | 8,321 | ENSG00000143179 | distal | NA | NA | |
1 | 165,920,133 | T | C | false | distal | 162 | rs12401653 | 0.000577 | 0.16773 | 56.002 | intergenic_variant | intergenic_variant | ENSG00000143179 | 8,514 | ENSG00000143179 | 8,514 | 8,514 | ENSG00000143179 | intergenic_variant | ENSG00000143179 | 24,547 | ENSG00000283936 | 12,211 | 12,211 | ENSG00000283936 | distal | NA | NA | |
1 | 166,157,295 | C | G | false | distal | 20 | rs72703957 | 0.000069 | 0.041811 | 59.668 | intron_variant | dELS_flank | ENSG00000188859 | 8,690 | ENSG00000215952 | 2,496 | 2,496 | ENSG00000215952 | dELS_flank | ENSG00000188859 | 9,673 | ENSG00000215952 | 2,496 | 2,496 | ENSG00000215952 | distal | NA | NA | |
1 | 166,382,957 | G | A | false | distal | 21 | rs4551573 | 0.000635 | 0.29487 | 95.433 | intergenic_variant | dELS_flank | ENSG00000188859 | 215,955 | ENSG00000225325 | 4,769 | 4,769 | ENSG00000225325 | dELS_flank | ENSG00000188859 | 215,955 | ENSG00000229588 | 48,072 | 48,072 | ENSG00000229588 | distal | NA | NA | |
1 | 166,475,776 | G | A | false | non_coding_transcript_exon_variant | 123 | rs17428629 | 0.000105 | 0.28165 | 113.4 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000188859 | 308,774 | ENSG00000234142 | 0 | 0 | ENSG00000234142 | non_coding_transcript_exon_variant | ENSG00000188859 | 308,774 | ENSG00000230231 | 1,030 | 1,030 | ENSG00000230231 | non_coding_transcript_exon_variant | NA | NA | |
1 | 166,475,879 | A | G | false | non_coding_transcript_exon_variant | 123 | rs1494430 | 0.000021 | 0.26046 | 82.109 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000188859 | 308,877 | ENSG00000234142 | 0 | 0 | ENSG00000234142 | non_coding_transcript_exon_variant | ENSG00000188859 | 308,877 | ENSG00000230231 | 1,133 | 1,133 | ENSG00000230231 | non_coding_transcript_exon_variant | NA | NA | |
1 | 167,043,387 | A | T | false | distal | 26 | rs6667210 | 0.000034 | 0.36801 | 155.66 | intergenic_variant | dELS | ENSG00000143167 | 9,448 | ENSG00000227907 | 9,163 | 9,163 | ENSG00000227907 | dELS | ENSG00000143167 | 46,989 | ENSG00000227907 | 9,163 | 9,163 | ENSG00000227907 | distal | NA | NA | |
1 | 167,157,731 | A | G | false | distal | 38 | rs870880 | 0.000009 | 0.49141 | 62.51 | intron_variant | dELS | ENSG00000143167 | 8,551 | ENSG00000213068 | 4,691 | 4,691 | ENSG00000213068 | dELS | ENSG00000143167 | 8,747 | ENSG00000213068 | 5,105 | 5,105 | ENSG00000213068 | distal | NA | NA | |
1 | 167,167,116 | G | C | false | tss_proximal | 141 | rs2861445 | 0.000007 | 0.037422 | 55.294 | upstream_gene_variant | dELS_flank | ENSG00000143167 | 636 | ENSG00000213068 | 4,278 | 636 | ENSG00000143167 | tss_proximal | ENSG00000143167 | 636 | ENSG00000213068 | 4,278 | 636 | ENSG00000143167 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 167,167,249 | G | A | false | tss_proximal | 141 | rs904226 | 0.000007 | 0.037334 | 55.362 | upstream_gene_variant | dELS_flank | ENSG00000143167 | 769 | ENSG00000213068 | 4,411 | 769 | ENSG00000143167 | tss_proximal | ENSG00000143167 | 769 | ENSG00000213068 | 4,411 | 769 | ENSG00000143167 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 167,425,693 | G | A | false | missense_variant | 73 | rs34539671 | 0.000011 | 0.019392 | 175.57 | missense_variant | missense_variant | ENSG00000143190 | 0 | ENSG00000143190 | 0 | 0 | ENSG00000143190 | missense_variant | ENSG00000198821 | 13,885 | ENSG00000198821 | 9,737 | 9,737 | ENSG00000198821 | missense_variant | NA | NA | |
1 | 167,439,637 | A | G | false | 5_prime_UTR_variant | 124 | rs1404567 | 0.000008 | 0.11446 | 40.897 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000198821 | 0 | ENSG00000198821 | 235 | 0 | ENSG00000198821 | 5_prime_UTR_variant | ENSG00000198821 | 5 | ENSG00000198821 | 296 | 5 | ENSG00000198821 | 5_prime_UTR_variant | NA | NA | |
1 | 167,452,526 | A | G | false | tss_proximal | 177 | rs1773560 | 0.008043 | 0.42613 | 57.617 | intron_variant | dELS | ENSG00000198821 | 2,953 | ENSG00000198821 | 559 | 559 | ENSG00000198821 | tss_proximal | ENSG00000198821 | 3,160 | ENSG00000198821 | 612 | 612 | ENSG00000198821 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 167,505,193 | C | T | false | distal | 51 | rs1723000 | 0.0001 | 0.15237 | 17.082 | intron_variant | dELS | ENSG00000198821 | 1,784 | ENSG00000198821 | 6,489 | 1,784 | ENSG00000198821 | dELS | ENSG00000198821 | 13,335 | ENSG00000198821 | 13,335 | 13,335 | ENSG00000198821 | distal | NA | NA | |
1 | 167,631,605 | C | T | true | tss_proximal | 177 | rs11579633 | 0.966865 | Neutro,WBC | 0.42417 | 68.236 | intron_variant | pELS | ENSG00000198771 | 1,175 | ENSG00000241666 | 930 | 930 | ENSG00000241666 | tss_proximal | ENSG00000198771 | 1,372 | ENSG00000241666 | 930 | 930 | ENSG00000241666 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
1 | 167,642,314 | G | A | false | distal | 52 | rs4657693 | 0.000035 | 0.35036 | 31.718 | intron_variant | dELS | ENSG00000198771 | 11,884 | ENSG00000198771 | 307 | 307 | ENSG00000198771 | dELS | ENSG00000198771 | 12,081 | ENSG00000241666 | 11,639 | 11,639 | ENSG00000241666 | distal | NA | NA | |
1 | 167,642,331 | T | C | false | distal | 52 | rs60763158 | 0.000037 | 0.35018 | 31.727 | intron_variant | dELS | ENSG00000198771 | 11,901 | ENSG00000198771 | 324 | 324 | ENSG00000198771 | dELS | ENSG00000198771 | 12,098 | ENSG00000241666 | 11,656 | 11,656 | ENSG00000241666 | distal | NA | NA | |
1 | 167,818,241 | T | C | false | missense_variant | 106 | rs41270737 | 0.000013 | 0.011616 | 20.797 | missense_variant | missense_variant | ENSG00000143199 | 0 | ENSG00000143199 | 0 | 0 | ENSG00000143199 | missense_variant | ENSG00000197965 | 52,670 | ENSG00000250762 | 2,006 | 2,006 | ENSG00000250762 | missense_variant | NA | NA | |
1 | 168,044,638 | G | A | false | missense_variant | 109 | rs113151068 | 0.000009 | 0.005348 | 22.61 | missense_variant | missense_variant | ENSG00000143164 | 0 | ENSG00000143164 | 0 | 0 | ENSG00000143164 | missense_variant | ENSG00000143147 | 91,744 | ENSG00000143164 | 442 | 442 | ENSG00000143164 | missense_variant | NA | NA | |
1 | 168,210,091 | G | A | false | tss_proximal | 175 | rs34333825 | 0.000146 | 0.047106 | 36.648 | upstream_gene_variant | pELS_flank | ENSG00000143155 | 7,981 | ENSG00000237049 | 524 | 524 | ENSG00000237049 | tss_proximal | ENSG00000213064 | 15,858 | ENSG00000237049 | 524 | 524 | ENSG00000237049 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 168,270,507 | A | G | false | distal | 167 | rs10800348 | 0.000314 | 0.29895 | 102.1 | intergenic_variant | CA_flank | ENSG00000143178 | 10,369 | ENSG00000206880 | 7,025 | 7,025 | ENSG00000206880 | CA_flank | ENSG00000143178 | 10,369 | ENSG00000206880 | 7,025 | 7,025 | ENSG00000206880 | distal | NA | NA | |
1 | 168,542,111 | A | G | false | splicing | 183 | rs4478789 | 0.00014 | 0.17473 | 76.521 | splice_region_variant | splice_region_variant | ENSG00000143185 | 3 | ENSG00000227777 | 625 | 3 | ENSG00000143185 | splice_region_variant | ENSG00000143185 | 1,885 | ENSG00000227777 | 625 | 625 | ENSG00000227777 | splicing | NA | splicing:b0 | |
1 | 168,543,990 | G | A | false | 5_prime_UTR_variant | 124 | rs3820407 | 0.000122 | 0.1188 | 55.563 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000143185 | 0 | ENSG00000227777 | 635 | 0 | ENSG00000143185 | 5_prime_UTR_variant | ENSG00000143185 | 6 | ENSG00000227777 | 1,252 | 6 | ENSG00000143185 | 5_prime_UTR_variant | NA | NA | |
1 | 168,544,005 | G | A | false | tss_proximal | 174 | rs1933114 | 0.000159 | 0.18561 | 82.109 | upstream_gene_variant | PLS | ENSG00000143185 | 7 | ENSG00000227777 | 650 | 7 | ENSG00000143185 | tss_proximal | ENSG00000143185 | 7 | ENSG00000227777 | 1,267 | 7 | ENSG00000143185 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 168,544,082 | A | G | false | tss_proximal | 174 | rs474414 | 0.000317 | 0.18175 | 66.58 | upstream_gene_variant | PLS | ENSG00000143185 | 84 | ENSG00000227777 | 727 | 84 | ENSG00000143185 | tss_proximal | ENSG00000143185 | 84 | ENSG00000227777 | 1,344 | 84 | ENSG00000143185 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 168,576,583 | G | A | false | tss_proximal | 174 | rs61079363 | 0.000219 | 0.16474 | 47.131 | upstream_gene_variant | PLS | ENSG00000143184 | 21 | ENSG00000229757 | 2,069 | 21 | ENSG00000143184 | tss_proximal | ENSG00000143184 | 21 | ENSG00000229757 | 2,855 | 21 | ENSG00000143184 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
1 | 168,643,938 | C | T | false | distal | 5 | rs7550529 | 0.000022 | 0.066507 | 47.371 | intergenic_variant | dELS_flank | ENSG00000143196 | 51,529 | ENSG00000285622 | 51,935 | 51,529 | ENSG00000143196 | dELS_flank | ENSG00000143184 | 67,332 | ENSG00000229757 | 64,498 | 64,498 | ENSG00000229757 | distal | NA | NA | |
1 | 168,645,736 | T | C | false | distal | 5 | rs16861219 | 0.00002 | 0.066125 | 47.324 | intergenic_variant | dELS_flank | ENSG00000143196 | 49,731 | ENSG00000285622 | 50,137 | 49,731 | ENSG00000143196 | dELS_flank | ENSG00000143184 | 69,130 | ENSG00000229757 | 66,296 | 66,296 | ENSG00000229757 | distal | NA | NA | |
1 | 168,645,762 | A | G | false | distal | 5 | rs78525374 | 0.00002 | 0.066125 | 47.324 | intergenic_variant | dELS_flank | ENSG00000143196 | 49,705 | ENSG00000285622 | 50,111 | 49,705 | ENSG00000143196 | dELS_flank | ENSG00000143184 | 69,156 | ENSG00000229757 | 66,322 | 66,322 | ENSG00000229757 | distal | NA | NA | |
1 | 169,368,236 | G | T | false | 5_prime_UTR_variant | 128 | rs142872438 | 0.000023 | 0.001637 | 24.266 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000117475 | 0 | ENSG00000143156 | 287 | 0 | ENSG00000117475 | 5_prime_UTR_variant | ENSG00000117475 | 0 | ENSG00000143156 | 287 | 0 | ENSG00000117475 | 5_prime_UTR_variant | NA | NA | |
1 | 169,451,735 | G | A | false | distal | 52 | rs6673326 | 0.000237 | 0.35597 | 350.14 | intron_variant | dELS | ENSG00000117477 | 8,061 | ENSG00000117477 | 423 | 423 | ENSG00000117477 | dELS | ENSG00000117477 | 8,933 | ENSG00000117477 | 8,685 | 8,685 | ENSG00000117477 | distal | NA | NA | |
1 | 169,460,874 | G | A | false | tss_proximal | 144 | rs10919173 | 0.000627 | 0.28526 | 287.46 | upstream_gene_variant | PLS | ENSG00000117477 | 204 | ENSG00000117477 | 421 | 204 | ENSG00000117477 | tss_proximal | ENSG00000117477 | 204 | ENSG00000117477 | 421 | 204 | ENSG00000117477 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
1 | 169,484,340 | T | C | false | distal | 151 | rs7414819 | 0.000756 | 0.099353 | 202.51 | intron_variant | pELS | ENSG00000117479 | 1,222 | ENSG00000213062 | 1,735 | 1,222 | ENSG00000117479 | pELS | ENSG00000117479 | 1,590 | ENSG00000213062 | 1,735 | 1,590 | ENSG00000117479 | distal | NA | NA | |
1 | 169,495,113 | A | T | false | non_coding_transcript_exon_variant | 118 | rs6658579 | 0.000102 | 0.42312 | 326.07 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000117479 | 9,168 | ENSG00000213062 | 0 | 0 | ENSG00000213062 | non_coding_transcript_exon_variant | ENSG00000117479 | 9,168 | ENSG00000213062 | 9,036 | 9,036 | ENSG00000213062 | non_coding_transcript_exon_variant | NA | NA | |
1 | 169,707,345 | A | G | false | missense_variant | 88 | rs1131498 | 0.004467 | 0.27566 | 197.48 | missense_variant | missense_variant | ENSG00000188404 | 0 | ENSG00000188404 | 0 | 0 | ENSG00000188404 | missense_variant | ENSG00000188404 | 4,015 | ENSG00000188404 | 1,294 | 1,294 | ENSG00000188404 | missense_variant | NA | NA | |
1 | 169,729,301 | G | T | false | missense_variant | 98 | rs79478039 | 0.000044 | 0.00395 | 9.9508 | missense_variant | missense_variant | ENSG00000007908 | 0 | ENSG00000007908 | 2,189 | 0 | ENSG00000007908 | missense_variant | ENSG00000007908 | 4,357 | ENSG00000007908 | 3,416 | 3,416 | ENSG00000007908 | missense_variant | NA | NA | |
1 | 169,729,502 | T | G | false | missense_variant | 98 | rs41272475 | 0.000032 | 0.004796 | 25.083 | missense_variant | missense_variant | ENSG00000007908 | 0 | ENSG00000007908 | 1,988 | 0 | ENSG00000007908 | missense_variant | ENSG00000007908 | 4,156 | ENSG00000007908 | 3,215 | 3,215 | ENSG00000007908 | missense_variant | NA | NA | |
1 | 169,739,594 | A | G | false | distal | 4 | rs10919230 | 0.001565 | 0.34401 | 287.97 | intron_variant | dELS_flank | ENSG00000007908 | 5,470 | ENSG00000007908 | 6,875 | 5,470 | ENSG00000007908 | dELS_flank | ENSG00000007908 | 5,514 | ENSG00000007908 | 6,875 | 5,514 | ENSG00000007908 | distal | NA | NA | |
1 | 169,845,931 | C | T | false | distal | 13 | rs2420512 | 0.003208 | 0.34356 | 314.25 | intron_variant | dELS_flank | ENSG00000000460 | 1,758 | ENSG00000000460 | 1,758 | 1,758 | ENSG00000000460 | dELS_flank | ENSG00000000457 | 42,956 | ENSG00000239494 | 13,824 | 13,824 | ENSG00000239494 | distal | NA | NA | |
1 | 169,920,659 | G | A | false | distal | 186 | rs656334 | 0.000026 | 0.09109 | 789.59 | downstream_gene_variant | downstream_gene_variant | ENSG00000075945 | 666 | ENSG00000288139 | 5,460 | 666 | ENSG00000075945 | downstream_gene_variant | ENSG00000000457 | 26,391 | ENSG00000288139 | 5,460 | 5,460 | ENSG00000288139 | distal | NA | NA | |
1 | 170,049,135 | T | C | false | distal | 13 | rs10127867 | 0.000055 | 0.33858 | 297.74 | intron_variant | dELS_flank | ENSG00000075945 | 2,268 | ENSG00000075945 | 2,268 | 2,268 | ENSG00000075945 | dELS_flank | ENSG00000075945 | 19,781 | ENSG00000075945 | 16,924 | 16,924 | ENSG00000075945 | distal | NA | NA | |
1 | 170,078,288 | G | T | false | distal | 4 | rs2050651 | 0.000051 | 0.33862 | 297.39 | intron_variant | dELS_flank | ENSG00000075945 | 3,549 | ENSG00000075945 | 6,746 | 3,549 | ENSG00000075945 | dELS_flank | ENSG00000075945 | 3,549 | ENSG00000075945 | 6,919 | 3,549 | ENSG00000075945 | distal | NA | NA | |
1 | 170,087,601 | G | A | false | distal | 20 | rs12117652 | 0.000163 | 0.042419 | 447.43 | intergenic_variant | dELS_flank | ENSG00000075945 | 12,862 | ENSG00000075945 | 2,392 | 2,392 | ENSG00000075945 | dELS_flank | ENSG00000075945 | 12,862 | ENSG00000075945 | 2,392 | 2,392 | ENSG00000075945 | distal | NA | NA | |
1 | 170,175,190 | C | G | false | tss_proximal | 182 | rs75109899 | 0.004886 | 0.014654 | 26.256 | intron_variant | PLS_flank | ENSG00000203740 | 6,323 | ENSG00000233985 | 483 | 483 | ENSG00000233985 | tss_proximal | ENSG00000203740 | 29,230 | ENSG00000233985 | 574 | 574 | ENSG00000233985 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
1 | 170,221,268 | G | A | false | distal | 59 | rs72700111 | 0.000074 | 0.066192 | 60.674 | intron_variant | dELS | ENSG00000203740 | 52,401 | ENSG00000233985 | 5,095 | 5,095 | ENSG00000233985 | dELS | ENSG00000203740 | 75,308 | ENSG00000238051 | 9,810 | 9,810 | ENSG00000238051 | distal | NA | NA | |
1 | 170,224,684 | G | C | true | distal | 59 | rs72700114 | 1 | AFib | 0.074523 | 43.623 | intron_variant | dELS | ENSG00000203740 | 55,817 | ENSG00000233985 | 1,679 | 1,679 | ENSG00000233985 | dELS | ENSG00000203740 | 78,724 | ENSG00000233985 | 10,070 | 10,070 | ENSG00000233985 | distal | NA | NA |
1 | 170,247,861 | G | A | false | distal | 54 | rs10919337 | 0.000105 | 0.16708 | 111.05 | intron_variant | dELS | ENSG00000203740 | 78,994 | ENSG00000233985 | 6,289 | 6,289 | ENSG00000233985 | dELS | ENSG00000203740 | 101,901 | ENSG00000233985 | 13,105 | 13,105 | ENSG00000233985 | distal | NA | NA | |
1 | 170,663,824 | G | A | false | 5_prime_UTR_variant | 124 | rs73032787 | 0.000476 | 0.10904 | 120.89 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000116132 | 0 | ENSG00000116132 | 481 | 0 | ENSG00000116132 | 5_prime_UTR_variant | ENSG00000116132 | 112 | ENSG00000116132 | 1,095 | 112 | ENSG00000116132 | 5_prime_UTR_variant | NA | NA | |
1 | 170,728,921 | T | C | false | 3_prime_UTR_variant | 134 | rs78712657 | 0.000035 | 0.051117 | 54.17 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000116132 | 0 | ENSG00000116132 | 1,284 | 0 | ENSG00000116132 | 3_prime_UTR_variant | ENSG00000116132 | 64,789 | ENSG00000116132 | 1,284 | 1,284 | ENSG00000116132 | 3_prime_UTR_variant | NA | NA | |
1 | 170,740,452 | T | G | true | distal | 160 | rs12046534 | 0.949675 | BFP | 0.44621 | 137.41 | intergenic_variant | intergenic_variant | ENSG00000116132 | 1,030 | ENSG00000116132 | 4,052 | 1,030 | ENSG00000116132 | intergenic_variant | ENSG00000116132 | 76,320 | ENSG00000116132 | 10,005 | 10,005 | ENSG00000116132 | distal | NA | NA |
1 | 170,744,926 | A | C | false | distal | 160 | rs10919456 | 0.000805 | 0.44919 | 183.91 | intergenic_variant | intergenic_variant | ENSG00000116132 | 5,504 | ENSG00000231424 | 3,646 | 3,646 | ENSG00000231424 | intergenic_variant | ENSG00000116132 | 80,794 | ENSG00000116132 | 14,479 | 14,479 | ENSG00000116132 | distal | NA | NA | |
1 | 171,199,406 | T | C | false | missense_variant | 83 | rs2307492 | 0.000024 | 0.092031 | 93.927 | missense_variant | missense_variant | ENSG00000094963 | 0 | ENSG00000225243 | 0 | 0 | ENSG00000094963 | missense_variant | ENSG00000094963 | 13,881 | ENSG00000094963 | 8,136 | 8,136 | ENSG00000094963 | missense_variant | NA | NA | |
1 | 171,222,047 | C | T | false | distal | 32 | rs61815363 | 0.000038 | 0.10389 | 112.11 | intron_variant | dELS | ENSG00000094963 | 9,360 | ENSG00000225243 | 1,949 | 1,949 | ENSG00000225243 | dELS | ENSG00000010932 | 26,423 | ENSG00000225243 | 2,236 | 2,236 | ENSG00000225243 | distal | NA | NA | |
1 | 171,468,914 | A | G | false | distal | 35 | rs6695535 | 0.000692 | 0.41848 | 172.81 | intergenic_variant | dELS | ENSG00000117523 | 16,615 | ENSG00000117523 | 16,636 | 16,615 | ENSG00000117523 | dELS | ENSG00000117523 | 16,615 | ENSG00000117523 | 16,636 | 16,615 | ENSG00000117523 | distal | NA | NA | |
1 | 171,509,567 | T | A | true | non_coding_transcript_exon_variant | 121 | rs6700683 | 0.98349 | eGFR,sCr | 0.47183 | 155.69 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000117523 | 2,464 | ENSG00000117523 | 0 | 0 | ENSG00000117523 | non_coding_transcript_exon_variant | ENSG00000117523 | 2,464 | ENSG00000117523 | 6 | 6 | ENSG00000117523 | non_coding_transcript_exon_variant | NA | NA |
1 | 171,542,303 | A | G | false | tss_proximal | 190 | rs2272810 | 0.000222 | 0.47877 | 167.98 | intron_variant | dELS_flank | ENSG00000117523 | 73 | ENSG00000117523 | 9,510 | 73 | ENSG00000117523 | tss_proximal | ENSG00000117523 | 472 | ENSG00000117523 | 18,953 | 472 | ENSG00000117523 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
1 | 171,571,378 | G | A | false | missense_variant | 90 | rs561342491 | 0.000067 | 0.000028 | 1.1837 | missense_variant | missense_variant | ENSG00000117523 | 0 | ENSG00000117523 | 16,283 | 0 | ENSG00000117523 | missense_variant | ENSG00000117523 | 13,422 | ENSG00000117523 | 16,283 | 13,422 | ENSG00000117523 | missense_variant | NA | NA | |
1 | 171,664,596 | G | A | false | distal | 9 | rs73041966 | 0.000073 | 0.061514 | 155.11 | intergenic_variant | dELS_flank | ENSG00000034971 | 11,907 | ENSG00000233328 | 5,920 | 5,920 | ENSG00000233328 | dELS_flank | ENSG00000034971 | 11,907 | ENSG00000233328 | 6,342 | 6,342 | ENSG00000233328 | distal | NA | NA | |
1 | 171,783,899 | A | G | false | missense_variant | 88 | rs2232816 | 0.000515 | 0.26794 | 272.55 | missense_variant | missense_variant | ENSG00000010165 | 0 | ENSG00000010165 | 0 | 0 | ENSG00000010165 | missense_variant | ENSG00000010165 | 2,202 | ENSG00000010165 | 2,234 | 2,202 | ENSG00000010165 | missense_variant | NA | NA | |
1 | 171,871,258 | C | G | false | distal | 58 | rs61805774 | 0.000032 | 0.004293 | 28.21 | intron_variant | dELS | ENSG00000197959 | 29,440 | ENSG00000233540 | 6,570 | 6,570 | ENSG00000233540 | dELS | ENSG00000197959 | 29,728 | ENSG00000233540 | 7,070 | 7,070 | ENSG00000233540 | distal | NA | NA | |
1 | 172,162,281 | T | C | false | distal | 71 | rs12064584 | 0.000162 | 0.18798 | 133.4 | intron_variant | dELS | ENSG00000197959 | 28,888 | ENSG00000230630 | 17,440 | 17,440 | ENSG00000230630 | dELS | ENSG00000197959 | 192,158 | ENSG00000230630 | 17,440 | 17,440 | ENSG00000230630 | distal | NA | NA | |
1 | 172,162,862 | T | C | false | distal | 71 | rs12117047 | 0.000182 | 0.1881 | 133.13 | intron_variant | dELS | ENSG00000197959 | 29,469 | ENSG00000230630 | 18,021 | 18,021 | ENSG00000230630 | dELS | ENSG00000197959 | 192,739 | ENSG00000230630 | 18,021 | 18,021 | ENSG00000230630 | distal | NA | NA |
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