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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 7,668,434 | T | G | true | 3_prime_UTR_variant | 912 | rs78378222 | 1 | ApoA,BW,Benign_Neoplasms,DBP,Height,LOY,MCH,MCV,Malignant_Neoplasms,PP,RBC,SkC,UF | 0.012616 | 31.4 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141510 | 0 | ENSG00000141510 | 1,008 | 0 | ENSG00000141510 | 3_prime_UTR_variant | ENSG00000141510 | 5,152 | ENSG00000141510 | 6,684 | 5,152 | ENSG00000141510 | 3_prime_UTR_variant | NA | NA |
17 | 7,674,089 | A | C | false | tss_proximal | 869 | rs12951053 | 0.009214 | 0.074579 | 72.316 | intron_variant | TF_flank | ENSG00000141510 | 91 | ENSG00000141510 | 91 | 91 | ENSG00000141510 | tss_proximal | ENSG00000141510 | 501 | ENSG00000141510 | 1,029 | 501 | ENSG00000141510 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 7,674,109 | G | A | false | tss_proximal | 869 | rs12947788 | 0.00823 | 0.074541 | 72.298 | intron_variant | TF_flank | ENSG00000141510 | 71 | ENSG00000141510 | 71 | 71 | ENSG00000141510 | tss_proximal | ENSG00000141510 | 521 | ENSG00000141510 | 1,009 | 521 | ENSG00000141510 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 7,675,353 | C | T | true | 5_prime_UTR_variant | 890 | rs35850753 | 0.99383 | Lym | 0.020105 | 44 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000141510 | 0 | ENSG00000141510 | 116 | 0 | ENSG00000141510 | 5_prime_UTR_variant | ENSG00000141510 | 139 | ENSG00000141510 | 233 | 139 | ENSG00000141510 | 5_prime_UTR_variant | NA | NA |
17 | 7,676,121 | G | A | false | missense_variant | 829 | rs201717599 | 0.000072 | 0.001225 | 7.1158 | missense_variant | missense_variant | ENSG00000141510 | 0 | ENSG00000141510 | 0 | 0 | ENSG00000141510 | missense_variant | ENSG00000141510 | 472 | ENSG00000141510 | 1,001 | 472 | ENSG00000141510 | missense_variant | NA | NA | |
17 | 7,688,404 | G | C | false | 5_prime_UTR_variant | 890 | rs17883670 | 0.000424 | 0.020243 | 16.646 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000141499 | 0 | ENSG00000141499 | 0 | 0 | ENSG00000141499 | 5_prime_UTR_variant | ENSG00000141499 | 72 | ENSG00000141499 | 30 | 30 | ENSG00000141499 | 5_prime_UTR_variant | NA | NA | |
17 | 7,701,153 | A | G | false | 3_prime_UTR_variant | 910 | rs60815182 | 0.00123 | 0.16885 | 83.162 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141499 | 305 | ENSG00000141499 | 0 | 0 | ENSG00000141499 | 3_prime_UTR_variant | ENSG00000108947 | 4,048 | ENSG00000141499 | 503 | 503 | ENSG00000141499 | 3_prime_UTR_variant | NA | NA | |
17 | 7,839,283 | G | A | true | tss_proximal | 900 | rs74480102 | 1 | Eosino,Neutro,WBC | 0.042974 | 39.996 | intron_variant | pELS | ENSG00000132510 | 620 | ENSG00000132510 | 620 | 620 | ENSG00000132510 | tss_proximal | ENSG00000132510 | 620 | ENSG00000132510 | 620 | 620 | ENSG00000132510 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 7,858,194 | C | A | false | missense_variant | 834 | rs12453250 | 0.002038 | 0.10899 | 54.248 | missense_variant | missense_variant | ENSG00000182224 | 0 | ENSG00000182224 | 0 | 0 | ENSG00000182224 | missense_variant | ENSG00000183011 | 114 | ENSG00000182224 | 88 | 88 | ENSG00000182224 | missense_variant | NA | NA | |
17 | 7,888,408 | C | G | false | tss_proximal | 900 | rs59090856 | 0.003964 | 0.041579 | 32.726 | intron_variant | pELS | ENSG00000170004 | 380 | ENSG00000170004 | 564 | 380 | ENSG00000170004 | tss_proximal | ENSG00000170004 | 380 | ENSG00000170004 | 647 | 380 | ENSG00000170004 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 7,932,133 | A | G | false | 5_prime_UTR_variant | 890 | rs9894029 | 0.000126 | 0.020735 | 32.268 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000170037 | 0 | ENSG00000170043 | 170 | 0 | ENSG00000170037 | 5_prime_UTR_variant | ENSG00000170043 | 9 | ENSG00000170043 | 170 | 9 | ENSG00000170043 | 5_prime_UTR_variant | NA | NA | |
17 | 7,933,640 | T | C | false | tss_proximal | 904 | rs4239115 | 0.001804 | 0.46696 | 146.99 | intron_variant | pELS | ENSG00000170037 | 290 | ENSG00000170037 | 290 | 290 | ENSG00000170037 | tss_proximal | ENSG00000170037 | 559 | ENSG00000170037 | 522 | 522 | ENSG00000170037 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 7,944,637 | C | A | false | missense_variant | 824 | rs11650083 | 0.002091 | 0.46226 | 146.87 | missense_variant | missense_variant | ENSG00000170037 | 0 | ENSG00000170037 | 0 | 0 | ENSG00000170037 | missense_variant | ENSG00000170037 | 2,986 | ENSG00000170037 | 693 | 693 | ENSG00000170037 | missense_variant | NA | NA | |
17 | 7,997,195 | G | A | false | distal | 857 | rs186416341 | 0.000422 | 0.007683 | 11.115 | intergenic_variant | dELS_flank | ENSG00000132518 | 5,419 | ENSG00000279174 | 16,131 | 5,419 | ENSG00000132518 | dELS_flank | ENSG00000132518 | 5,419 | ENSG00000132518 | 18,933 | 5,419 | ENSG00000132518 | distal | NA | NA | |
17 | 7,997,681 | C | T | false | distal | 857 | rs558057348 | 0.000028 | 0.000552 | 5.8426 | intergenic_variant | dELS_flank | ENSG00000132518 | 4,933 | ENSG00000279174 | 15,645 | 4,933 | ENSG00000132518 | dELS_flank | ENSG00000132518 | 4,933 | ENSG00000132518 | 18,447 | 4,933 | ENSG00000132518 | distal | NA | NA | |
17 | 8,033,389 | G | A | false | distal | 854 | rs12946246 | 0.000903 | 0.27486 | 38.315 | intergenic_variant | dELS_flank | ENSG00000179593 | 5,644 | ENSG00000179593 | 5,711 | 5,644 | ENSG00000179593 | dELS_flank | ENSG00000179593 | 5,644 | ENSG00000179593 | 5,711 | 5,644 | ENSG00000179593 | distal | NA | NA | |
17 | 8,111,245 | C | T | false | distal | 875 | rs3027210 | 0.001144 | 0.42408 | 36.898 | intron_variant | dELS | ENSG00000179148 | 113 | ENSG00000179148 | 7,729 | 113 | ENSG00000179148 | dELS | ENSG00000179148 | 7,243 | ENSG00000179148 | 7,729 | 7,243 | ENSG00000179148 | distal | NA | NA | |
17 | 8,172,848 | A | G | false | 3_prime_UTR_variant | 915 | rs9894148 | 0.003396 | 0.33963 | 140.71 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000179029 | 0 | ENSG00000200463 | 605 | 0 | ENSG00000179029 | 3_prime_UTR_variant | ENSG00000179029 | 3,467 | ENSG00000200463 | 738 | 738 | ENSG00000200463 | 3_prime_UTR_variant | NA | NA | |
17 | 8,173,484 | T | A | false | 3_prime_UTR_variant | 915 | rs9901637 | 0.004437 | 0.3395 | 140.7 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000179029 | 0 | ENSG00000200463 | 0 | 0 | ENSG00000179029 | 3_prime_UTR_variant | ENSG00000179029 | 2,831 | ENSG00000200463 | 102 | 102 | ENSG00000200463 | 3_prime_UTR_variant | NA | NA | |
17 | 8,211,233 | C | T | false | tss_proximal | 900 | rs62063108 | 0.005898 | 0.043135 | 58.535 | upstream_gene_variant | pELS | ENSG00000178999 | 648 | ENSG00000178999 | 632 | 632 | ENSG00000178999 | tss_proximal | ENSG00000178999 | 648 | ENSG00000178999 | 632 | 632 | ENSG00000178999 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 8,234,419 | G | A | false | tss_proximal | 931 | rs4792621 | 0.006755 | 0.14284 | 82.695 | intron_variant | dELS_flank | ENSG00000178971 | 35 | ENSG00000178971 | 35 | 35 | ENSG00000178971 | tss_proximal | ENSG00000178921 | 13,198 | ENSG00000178971 | 946 | 946 | ENSG00000178971 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 8,257,799 | C | G | false | splicing | 909 | rs56794556 | 0.000205 | 0.000017 | 60.53 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000178921 | 7 | ENSG00000178921 | 7 | 7 | ENSG00000178921 | splice_polypyrimidine_tract_variant | ENSG00000178921 | 3,860 | ENSG00000178921 | 4,660 | 3,860 | ENSG00000178921 | splicing | NA | splicing:b1 | |
17 | 8,294,964 | T | C | false | 5_prime_UTR_variant | 890 | rs17807507 | 0.00018 | 0.019852 | 32.895 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000125434 | 0 | ENSG00000125434 | 127 | 0 | ENSG00000125434 | 5_prime_UTR_variant | ENSG00000125434 | 111 | ENSG00000125434 | 127 | 111 | ENSG00000125434 | 5_prime_UTR_variant | NA | NA | |
17 | 8,340,280 | C | T | false | missense_variant | 834 | rs73250854 | 0.000143 | 0.11657 | 81.078 | missense_variant | missense_variant | ENSG00000184650 | 0 | ENSG00000184650 | 119 | 0 | ENSG00000184650 | missense_variant | ENSG00000184650 | 409 | ENSG00000184650 | 177 | 177 | ENSG00000184650 | missense_variant | NA | NA | |
17 | 8,373,318 | A | G | false | distal | 877 | rs2909440 | 0.00048 | 0.3418 | 87.94 | intron_variant | dELS | ENSG00000184619 | 1,236 | ENSG00000265749 | 172 | 172 | ENSG00000265749 | dELS | ENSG00000184619 | 3,339 | ENSG00000265749 | 2,691 | 2,691 | ENSG00000265749 | distal | NA | NA | |
17 | 8,373,897 | A | G | false | distal | 877 | rs2909441 | 0.000416 | 0.34274 | 87.81 | intron_variant | dELS | ENSG00000184619 | 1,815 | ENSG00000265749 | 80 | 80 | ENSG00000265749 | dELS | ENSG00000184619 | 2,760 | ENSG00000265749 | 2,112 | 2,112 | ENSG00000265749 | distal | NA | NA | |
17 | 8,376,691 | C | G | false | 5_prime_UTR_variant | 888 | rs389289 | 0.009864 | 0.26131 | 110.82 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000184619 | 0 | ENSG00000265749 | 383 | 0 | ENSG00000184619 | 5_prime_UTR_variant | ENSG00000184619 | 9 | ENSG00000265749 | 383 | 9 | ENSG00000184619 | 5_prime_UTR_variant | NA | NA | |
17 | 8,405,463 | G | A | false | distal | 875 | rs11078745 | 0.000399 | 0.4234 | 65.309 | intergenic_variant | dELS | ENSG00000189051 | 7,635 | ENSG00000166579 | 7,668 | 7,635 | ENSG00000189051 | dELS | ENSG00000189051 | 7,635 | ENSG00000166579 | 7,668 | 7,635 | ENSG00000189051 | distal | NA | NA | |
17 | 8,421,467 | A | G | false | distal | 859 | rs2030126 | 0.000173 | 0.20707 | 42.959 | intron_variant | dELS_flank | ENSG00000166579 | 8,197 | ENSG00000166579 | 8,197 | 8,197 | ENSG00000166579 | dELS_flank | ENSG00000166579 | 8,335 | ENSG00000166579 | 8,271 | 8,271 | ENSG00000166579 | distal | NA | NA | |
17 | 8,645,331 | C | T | false | distal | 907 | rs116982102 | 0.000211 | 0.010922 | 19.597 | intergenic_variant | intergenic_variant | ENSG00000133026 | 13,954 | ENSG00000133026 | 14,008 | 13,954 | ENSG00000133026 | intergenic_variant | ENSG00000133026 | 13,954 | ENSG00000133026 | 14,008 | 13,954 | ENSG00000133026 | distal | NA | NA | |
17 | 8,653,066 | T | C | false | distal | 908 | rs34697307 | 0.000131 | 0.33563 | 85.273 | intergenic_variant | intergenic_variant | ENSG00000133026 | 21,689 | ENSG00000133026 | 21,743 | 21,689 | ENSG00000133026 | intergenic_variant | ENSG00000133026 | 21,689 | ENSG00000133026 | 21,743 | 21,689 | ENSG00000133026 | distal | NA | NA | |
17 | 8,657,699 | T | C | false | distal | 908 | rs3859230 | 0.000181 | 0.34785 | 50.091 | intergenic_variant | intergenic_variant | ENSG00000133026 | 26,322 | ENSG00000133026 | 26,376 | 26,322 | ENSG00000133026 | intergenic_variant | ENSG00000133026 | 26,322 | ENSG00000133026 | 26,376 | 26,322 | ENSG00000133026 | distal | NA | NA | |
17 | 8,715,477 | G | A | false | distal | 906 | rs11078762 | 0.000369 | 0.45467 | 102.06 | intergenic_variant | intergenic_variant | ENSG00000161973 | 14,457 | ENSG00000183318 | 37,628 | 14,457 | ENSG00000161973 | intergenic_variant | ENSG00000161973 | 29,309 | ENSG00000183318 | 43,081 | 29,309 | ENSG00000161973 | distal | NA | NA | |
17 | 8,760,530 | C | A | false | distal | 905 | rs183057762 | 0.000745 | 0.004658 | 11.609 | intergenic_variant | intergenic_variant | ENSG00000183318 | 1,970 | ENSG00000183318 | 1,970 | 1,970 | ENSG00000183318 | intergenic_variant | ENSG00000183318 | 1,970 | ENSG00000183318 | 1,970 | 1,970 | ENSG00000183318 | distal | NA | NA | |
17 | 8,771,974 | C | T | false | distal | 907 | rs140178174 | 0.000072 | 0.016585 | 12.787 | intergenic_variant | intergenic_variant | ENSG00000183318 | 13,414 | ENSG00000183318 | 13,414 | 13,414 | ENSG00000183318 | intergenic_variant | ENSG00000183318 | 13,414 | ENSG00000183318 | 13,414 | 13,414 | ENSG00000183318 | distal | NA | NA | |
17 | 8,857,168 | G | A | false | distal | 879 | rs4310906 | 0.000029 | 0.000395 | 23.532 | intron_variant | dELS | ENSG00000276231 | 7,282 | ENSG00000276231 | 7,282 | 7,282 | ENSG00000276231 | dELS | ENSG00000276231 | 10,505 | ENSG00000276231 | 10,491 | 10,491 | ENSG00000276231 | distal | NA | NA | |
17 | 8,888,711 | A | G | false | missense_variant | 836 | rs141086831 | 0.000188 | 0.003681 | 6.2536 | missense_variant | missense_variant | ENSG00000141506 | 0 | ENSG00000141506 | 0 | 0 | ENSG00000141506 | missense_variant | ENSG00000141506 | 6,841 | ENSG00000141506 | 197 | 197 | ENSG00000141506 | missense_variant | NA | NA | |
17 | 9,013,151 | A | T | true | distal | 906 | rs11078776 | 0.9988 | eBMD | 0.45316 | 46.326 | intergenic_variant | intergenic_variant | ENSG00000065320 | 8,358 | ENSG00000265975 | 36,155 | 8,358 | ENSG00000065320 | intergenic_variant | ENSG00000065320 | 8,358 | ENSG00000265975 | 45,627 | 8,358 | ENSG00000065320 | distal | NA | NA |
17 | 9,016,098 | C | A | false | distal | 906 | rs58772677 | 0.000574 | 0.41335 | 49.065 | intergenic_variant | intergenic_variant | ENSG00000065320 | 5,411 | ENSG00000265975 | 39,102 | 5,411 | ENSG00000065320 | intergenic_variant | ENSG00000065320 | 5,411 | ENSG00000265975 | 48,574 | 5,411 | ENSG00000065320 | distal | NA | NA | |
17 | 9,402,888 | T | C | false | distal | 882 | rs9893856 | 0.000039 | 0.22833 | 62.496 | intron_variant | dELS | ENSG00000170310 | 24,234 | ENSG00000170310 | 24,234 | 24,234 | ENSG00000170310 | dELS | ENSG00000170310 | 172,931 | ENSG00000170310 | 35,000 | 35,000 | ENSG00000170310 | distal | NA | NA | |
17 | 9,409,015 | C | G | false | distal | 882 | rs11078798 | 0.000156 | 0.19938 | 28.404 | intron_variant | dELS | ENSG00000170310 | 30,361 | ENSG00000170310 | 28,781 | 28,781 | ENSG00000170310 | dELS | ENSG00000170310 | 166,804 | ENSG00000170310 | 28,873 | 28,873 | ENSG00000170310 | distal | NA | NA | |
17 | 9,820,239 | C | T | false | distal | 844 | rs17207850 | 0.000007 | 0.014688 | 5.8 | intron_variant | pELS_flank | ENSG00000214978 | 1,522 | ENSG00000065325 | 5,664 | 1,522 | ENSG00000214978 | pELS_flank | ENSG00000214978 | 1,839 | ENSG00000065325 | 5,664 | 1,839 | ENSG00000214978 | distal | NA | NA | |
17 | 9,860,036 | C | T | false | missense_variant | 821 | rs145296340 | 0.000006 | 0.002977 | 3.9796 | missense_variant | missense_variant | ENSG00000065325 | 0 | ENSG00000065325 | 0 | 0 | ENSG00000065325 | missense_variant | ENSG00000065325 | 17,550 | ENSG00000265593 | 6,729 | 6,729 | ENSG00000265593 | missense_variant | NA | NA | |
17 | 10,045,785 | A | G | false | distal | 860 | rs11650065 | 0.000009 | 0.17701 | 30.399 | intron_variant | dELS_flank | ENSG00000007237 | 5,989 | ENSG00000007237 | 9,083 | 5,989 | ENSG00000007237 | dELS_flank | ENSG00000007237 | 9,037 | ENSG00000007237 | 9,083 | 9,037 | ENSG00000007237 | distal | NA | NA | |
17 | 10,320,380 | G | T | false | missense_variant | 818 | rs2074876 | 0.000009 | 0.09602 | 30.029 | missense_variant | missense_variant | ENSG00000006788 | 0 | ENSG00000264067 | 11 | 0 | ENSG00000006788 | missense_variant | ENSG00000006788 | 44,163 | ENSG00000264067 | 11 | 11 | ENSG00000264067 | missense_variant | NA | NA | |
17 | 10,336,417 | C | T | false | distal | 919 | rs72814768 | 0.000035 | 0.16431 | 65.455 | intron_variant | CA_flank | ENSG00000006788 | 3,225 | ENSG00000264067 | 4,646 | 3,225 | ENSG00000006788 | CA_flank | ENSG00000006788 | 28,126 | ENSG00000264067 | 16,024 | 16,024 | ENSG00000264067 | distal | NA | NA | |
17 | 10,429,872 | C | T | false | distal | 855 | rs7215183 | 0.000008 | 0.011123 | 12.426 | intron_variant | dELS_flank | ENSG00000133020 | 7,921 | ENSG00000272736 | 23,594 | 7,921 | ENSG00000133020 | dELS_flank | ENSG00000133020 | 7,921 | ENSG00000272736 | 46,715 | 7,921 | ENSG00000133020 | distal | NA | NA | |
17 | 10,631,643 | C | T | false | missense_variant | 833 | rs34393601 | 0.000007 | 0.021116 | 29.689 | missense_variant | missense_variant | ENSG00000109063 | 0 | ENSG00000109063 | 1,613 | 0 | ENSG00000109063 | missense_variant | ENSG00000109063 | 25,665 | ENSG00000109063 | 1,613 | 1,613 | ENSG00000109063 | missense_variant | NA | NA | |
17 | 10,642,813 | T | G | false | splicing | 922 | rs2285468 | 0.000006 | 0.23212 | 115.36 | intron_variant | intron_variant | ENSG00000109063 | 12 | ENSG00000109063 | 5,821 | 12 | ENSG00000109063 | exon_proximal | ENSG00000109063 | 14,495 | ENSG00000109063 | 9,154 | 9,154 | ENSG00000109063 | splicing | NA | splicing:b1 | |
17 | 10,715,475 | G | C | false | missense_variant | 810 | rs116497896 | 0.00007 | 0.008905 | 12.474 | missense_variant | missense_variant | ENSG00000187824 | 0 | ENSG00000187824 | 0 | 0 | ENSG00000187824 | missense_variant | ENSG00000187824 | 9,643 | ENSG00000264176 | 954 | 954 | ENSG00000264176 | missense_variant | NA | NA | |
17 | 11,278,825 | C | A | false | distal | 876 | rs12945869 | 0.000016 | 0.01538 | 52.548 | intron_variant | dELS | ENSG00000188803 | 15,298 | ENSG00000264727 | 9,379 | 9,379 | ENSG00000264727 | dELS | ENSG00000188803 | 36,883 | ENSG00000264727 | 9,379 | 9,379 | ENSG00000264727 | distal | NA | NA | |
17 | 11,632,732 | G | A | false | splicing | 922 | rs11655911 | 0.00001 | 0.26231 | 72.601 | intron_variant | intron_variant | ENSG00000007174 | 28 | ENSG00000007174 | 2,217 | 28 | ENSG00000007174 | exon_proximal | ENSG00000007174 | 20,969 | ENSG00000007174 | 15,331 | 15,331 | ENSG00000007174 | splicing | NA | splicing:b1 | |
17 | 11,923,795 | G | A | false | splicing | 923 | rs28622261 | 0.000012 | 0.14988 | 136.08 | intron_variant | dELS_flank | ENSG00000007174 | 18 | ENSG00000007174 | 18 | 18 | ENSG00000007174 | exon_proximal | ENSG00000007174 | 40,892 | ENSG00000007174 | 39,460 | 39,460 | ENSG00000007174 | splicing | NA | splicing:b1 | |
17 | 11,969,450 | T | C | false | missense_variant | 820 | rs8074656 | 0.00001 | 0.000059 | 29.87 | missense_variant | missense_variant | ENSG00000007174 | 0 | ENSG00000007174 | 0 | 0 | ENSG00000007174 | missense_variant | ENSG00000154957 | 21,562 | ENSG00000266368 | 8,143 | 8,143 | ENSG00000266368 | missense_variant | NA | NA | |
17 | 12,181,012 | G | A | false | distal | 882 | rs7210691 | 0.000032 | 0.19936 | 131.34 | intergenic_variant | dELS | ENSG00000065559 | 37,181 | ENSG00000265400 | 20,587 | 20,587 | ENSG00000265400 | dELS | ENSG00000065559 | 160,134 | ENSG00000265400 | 20,587 | 20,587 | ENSG00000265400 | distal | NA | NA | |
17 | 12,181,408 | A | G | false | distal | 882 | rs7210935 | 0.00003 | 0.19921 | 131.64 | intergenic_variant | dELS | ENSG00000065559 | 37,577 | ENSG00000265400 | 20,191 | 20,191 | ENSG00000265400 | dELS | ENSG00000065559 | 160,530 | ENSG00000265400 | 20,191 | 20,191 | ENSG00000265400 | distal | NA | NA | |
17 | 12,181,471 | A | T | false | distal | 882 | rs7211076 | 0.000031 | 0.19937 | 131.66 | intergenic_variant | dELS | ENSG00000065559 | 37,640 | ENSG00000265400 | 20,128 | 20,128 | ENSG00000265400 | dELS | ENSG00000065559 | 160,593 | ENSG00000265400 | 20,128 | 20,128 | ENSG00000265400 | distal | NA | NA | |
17 | 12,181,671 | G | A | false | distal | 882 | rs9906531 | 0.00003 | 0.19934 | 131.7 | intergenic_variant | dELS | ENSG00000065559 | 37,840 | ENSG00000265400 | 19,928 | 19,928 | ENSG00000265400 | dELS | ENSG00000065559 | 160,793 | ENSG00000265400 | 19,928 | 19,928 | ENSG00000265400 | distal | NA | NA | |
17 | 12,181,687 | C | T | false | distal | 882 | rs7215351 | 0.00003 | 0.19885 | 131.53 | intergenic_variant | dELS | ENSG00000065559 | 37,856 | ENSG00000265400 | 19,912 | 19,912 | ENSG00000265400 | dELS | ENSG00000065559 | 160,809 | ENSG00000265400 | 19,912 | 19,912 | ENSG00000265400 | distal | NA | NA | |
17 | 12,209,730 | G | A | true | distal | 871 | rs529303494 | 0.946595 | sCr | 0.005404 | 10.319 | intron_variant | dELS | ENSG00000065559 | 65,899 | ENSG00000265400 | 1,391 | 1,391 | ENSG00000265400 | dELS | ENSG00000065559 | 188,852 | ENSG00000265400 | 8,129 | 8,129 | ENSG00000265400 | distal | NA | NA |
17 | 12,209,834 | A | C | false | distal | 871 | rs7223753 | 0.000812 | 0.011354 | 25.937 | intron_variant | dELS | ENSG00000065559 | 66,003 | ENSG00000265400 | 1,287 | 1,287 | ENSG00000265400 | dELS | ENSG00000065559 | 188,956 | ENSG00000265400 | 8,233 | 8,233 | ENSG00000265400 | distal | NA | NA | |
17 | 12,209,887 | A | T | false | distal | 871 | rs79273725 | 0.000842 | 0.011351 | 25.939 | intron_variant | dELS | ENSG00000065559 | 66,056 | ENSG00000265400 | 1,234 | 1,234 | ENSG00000265400 | dELS | ENSG00000065559 | 189,009 | ENSG00000265400 | 8,286 | 8,286 | ENSG00000265400 | distal | NA | NA | |
17 | 12,209,908 | C | G | false | distal | 871 | rs138149655 | 0.000825 | 0.011353 | 25.936 | intron_variant | dELS | ENSG00000065559 | 66,077 | ENSG00000265400 | 1,213 | 1,213 | ENSG00000265400 | dELS | ENSG00000065559 | 189,030 | ENSG00000265400 | 8,307 | 8,307 | ENSG00000265400 | distal | NA | NA | |
17 | 12,209,918 | G | A | false | distal | 871 | rs187337479 | 0.00001 | 0.010287 | 16.861 | intron_variant | dELS | ENSG00000065559 | 66,087 | ENSG00000265400 | 1,203 | 1,203 | ENSG00000265400 | dELS | ENSG00000065559 | 189,040 | ENSG00000265400 | 8,317 | 8,317 | ENSG00000265400 | distal | NA | NA | |
17 | 12,395,161 | G | T | false | non_coding_transcript_exon_variant | 865 | rs138003395 | 0.002141 | 0.011575 | 18.464 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000065559 | 251,330 | ENSG00000286617 | 0 | 0 | ENSG00000286617 | non_coding_transcript_exon_variant | ENSG00000141052 | 270,728 | ENSG00000286617 | 15 | 15 | ENSG00000286617 | non_coding_transcript_exon_variant | NA | NA | |
17 | 12,608,251 | C | T | false | distal | 924 | rs1989504 | 0.000036 | 0.37815 | 83.698 | intron_variant | intron_variant | ENSG00000141052 | 57,638 | ENSG00000287462 | 2,246 | 2,246 | ENSG00000287462 | intron_variant | ENSG00000141052 | 57,638 | ENSG00000179136 | 17,615 | 17,615 | ENSG00000179136 | distal | NA | NA | |
17 | 12,608,759 | A | G | false | distal | 924 | rs12450472 | 0.000038 | 0.37813 | 83.685 | intron_variant | intron_variant | ENSG00000141052 | 57,130 | ENSG00000287462 | 2,754 | 2,754 | ENSG00000287462 | intron_variant | ENSG00000141052 | 57,130 | ENSG00000179136 | 18,123 | 18,123 | ENSG00000179136 | distal | NA | NA | |
17 | 12,791,838 | C | T | false | distal | 845 | rs17630644 | 0.000019 | 0.038078 | 17.422 | intron_variant | pELS_flank | ENSG00000006740 | 1,946 | ENSG00000006740 | 1,092 | 1,092 | ENSG00000006740 | pELS_flank | ENSG00000006740 | 2,077 | ENSG00000006740 | 1,346 | 1,346 | ENSG00000006740 | distal | NA | NA | |
17 | 12,941,064 | C | G | false | missense_variant | 821 | rs190228329 | 0.000027 | 0.000201 | 3.2768 | missense_variant | missense_variant | ENSG00000006740 | 0 | ENSG00000006740 | 0 | 0 | ENSG00000006740 | missense_variant | ENSG00000006740 | 14,699 | ENSG00000006740 | 8,616 | 8,616 | ENSG00000006740 | missense_variant | NA | NA | |
17 | 12,961,462 | T | C | false | distal | 919 | rs11078099 | 0.000021 | 0.16007 | 142.31 | intron_variant | CA_flank | ENSG00000006740 | 2,564 | ENSG00000006740 | 2,416 | 2,416 | ENSG00000006740 | CA_flank | ENSG00000006740 | 5,697 | ENSG00000006740 | 11,780 | 5,697 | ENSG00000006740 | distal | NA | NA | |
17 | 12,989,626 | G | C | false | tss_proximal | 926 | rs2072262 | 0.000027 | 0.12239 | 171.03 | intron_variant | pELS_flank | ENSG00000006740 | 405 | ENSG00000006740 | 405 | 405 | ENSG00000006740 | tss_proximal | ENSG00000006740 | 9,517 | ENSG00000263707 | 983 | 983 | ENSG00000263707 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
17 | 14,206,977 | G | T | false | missense_variant | 833 | rs111541535 | 0.000012 | 0.01465 | 36.254 | missense_variant | missense_variant | ENSG00000006695 | 0 | ENSG00000006695 | 0 | 0 | ENSG00000006695 | missense_variant | ENSG00000223510 | 29,884 | ENSG00000006695 | 3,510 | 3,510 | ENSG00000006695 | missense_variant | NA | NA | |
17 | 14,301,093 | T | C | false | 5_prime_UTR_variant | 892 | rs2072242 | 0.000103 | 0.2411 | 60.467 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000125430 | 0 | ENSG00000125430 | 0 | 0 | ENSG00000125430 | 5_prime_UTR_variant | ENSG00000125430 | 11 | ENSG00000125430 | 9 | 9 | ENSG00000125430 | 5_prime_UTR_variant | NA | NA | |
17 | 14,301,383 | G | A | false | 5_prime_UTR_variant | 890 | rs571323205 | 0.000027 | 0.019842 | 11.274 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000125430 | 0 | ENSG00000125430 | 0 | 0 | ENSG00000125430 | 5_prime_UTR_variant | ENSG00000125430 | 301 | ENSG00000125430 | 299 | 299 | ENSG00000125430 | 5_prime_UTR_variant | NA | NA | |
17 | 15,231,004 | G | A | false | missense_variant | 819 | rs74361095 | 0.000055 | 0.00002 | 7.5623 | missense_variant | missense_variant | ENSG00000109099 | 0 | ENSG00000109099 | 0 | 0 | ENSG00000109099 | missense_variant | ENSG00000109099 | 29,756 | ENSG00000109099 | 917 | 917 | ENSG00000109099 | missense_variant | NA | NA | |
17 | 15,239,437 | C | T | false | missense_variant | 820 | rs78099380 | 0.000012 | 0.000043 | 29.505 | missense_variant | missense_variant | ENSG00000109099 | 0 | ENSG00000109099 | 33 | 0 | ENSG00000109099 | missense_variant | ENSG00000109099 | 21,323 | ENSG00000109099 | 7,514 | 7,514 | ENSG00000109099 | missense_variant | NA | NA | |
17 | 15,269,904 | C | A | false | distal | 870 | rs179521 | 0.000208 | 0.3483 | 96.892 | intron_variant | dELS | ENSG00000109099 | 1,767 | ENSG00000109099 | 1,289 | 1,289 | ENSG00000109099 | dELS | ENSG00000109099 | 2,102 | ENSG00000109099 | 2,376 | 2,102 | ENSG00000109099 | distal | NA | NA | |
17 | 15,369,288 | T | C | false | distal | 862 | rs230885 | 0.003284 | 0.46819 | 60.93 | intergenic_variant | dELS_flank | ENSG00000125409 | 27,655 | ENSG00000279567 | 3,410 | 3,410 | ENSG00000279567 | dELS_flank | ENSG00000125409 | 27,655 | ENSG00000279567 | 3,964 | 3,964 | ENSG00000279567 | distal | NA | NA | |
17 | 15,387,789 | G | C | false | distal | 924 | rs7216460 | 0.000048 | 0.39857 | 31.288 | intron_variant | intron_variant | ENSG00000125409 | 46,156 | ENSG00000266667 | 5,667 | 5,667 | ENSG00000266667 | intron_variant | ENSG00000125409 | 46,156 | ENSG00000239888 | 20,594 | 20,594 | ENSG00000239888 | distal | NA | NA | |
17 | 15,388,114 | T | G | false | distal | 924 | rs7217842 | 0.000051 | 0.39555 | 31.153 | intron_variant | intron_variant | ENSG00000125409 | 46,481 | ENSG00000266667 | 5,992 | 5,992 | ENSG00000266667 | intron_variant | ENSG00000125409 | 46,481 | ENSG00000239888 | 20,269 | 20,269 | ENSG00000239888 | distal | NA | NA | |
17 | 15,437,866 | A | C | false | missense_variant | 818 | rs2954759 | 0.000028 | 0.093215 | 70.338 | missense_variant | missense_variant | ENSG00000239704 | 0 | ENSG00000239704 | 0 | 0 | ENSG00000239704 | missense_variant | ENSG00000239704 | 29,754 | ENSG00000234324 | 5,772 | 5,772 | ENSG00000234324 | missense_variant | NA | NA | |
17 | 15,503,128 | G | C | false | missense_variant | 823 | rs139005045 | 0.000097 | 0.012571 | 15.692 | missense_variant | missense_variant | ENSG00000175106 | 0 | ENSG00000259024 | 0 | 0 | ENSG00000175106 | missense_variant | ENSG00000259024 | 479 | ENSG00000223878 | 3,737 | 479 | ENSG00000259024 | missense_variant | NA | NA | |
17 | 15,609,751 | C | T | false | distal | 927 | rs55908225 | 0.00011 | 0.27663 | 159.58 | intron_variant | CA-CTCF | ENSG00000251537 | 2,067 | ENSG00000241322 | 11,132 | 2,067 | ENSG00000251537 | CA-CTCF | ENSG00000241322 | 5,942 | ENSG00000241322 | 11,132 | 5,942 | ENSG00000241322 | distal | NA | NA | |
17 | 15,628,628 | C | A | false | missense_variant | 828 | rs1060903 | 0.000141 | 0.24608 | 130.99 | missense_variant | missense_variant | ENSG00000221926 | 0 | ENSG00000221926 | 67 | 0 | ENSG00000221926 | missense_variant | ENSG00000221926 | 7,514 | ENSG00000221926 | 3,406 | 3,406 | ENSG00000221926 | missense_variant | NA | NA | |
17 | 15,629,086 | G | A | false | missense_variant | 812 | rs148258149 | 0.000377 | 0.005206 | 15.305 | missense_variant | missense_variant | ENSG00000221926 | 0 | ENSG00000221926 | 0 | 0 | ENSG00000221926 | missense_variant | ENSG00000221926 | 7,056 | ENSG00000221926 | 2,948 | 2,948 | ENSG00000221926 | missense_variant | NA | NA | |
17 | 15,684,201 | C | T | false | 5_prime_UTR_variant | 893 | rs11654376 | 0.000065 | 0.013116 | 14.101 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000221926 | 0 | ENSG00000221926 | 0 | 0 | ENSG00000221926 | 5_prime_UTR_variant | ENSG00000221926 | 97 | ENSG00000221926 | 64 | 64 | ENSG00000221926 | 5_prime_UTR_variant | NA | NA | |
17 | 15,684,249 | G | A | false | 5_prime_UTR_variant | 889 | rs563660329 | 0.000045 | 0.004663 | 37.819 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000221926 | 0 | ENSG00000221926 | 0 | 0 | ENSG00000221926 | 5_prime_UTR_variant | ENSG00000221926 | 49 | ENSG00000221926 | 16 | 16 | ENSG00000221926 | 5_prime_UTR_variant | NA | NA | |
17 | 15,697,658 | T | G | false | distal | 905 | rs186440320 | 0.000043 | 0.004715 | 37.243 | intergenic_variant | intergenic_variant | ENSG00000187607 | 1,918 | ENSG00000255104 | 1,893 | 1,893 | ENSG00000255104 | intergenic_variant | ENSG00000187607 | 1,918 | ENSG00000255104 | 1,893 | 1,893 | ENSG00000255104 | distal | NA | NA | |
17 | 15,998,172 | G | A | false | distal | 845 | rs74503177 | 0.000228 | 0.035876 | 44.833 | intron_variant | pELS_flank | ENSG00000214941 | 1,346 | ENSG00000214941 | 1,330 | 1,330 | ENSG00000214941 | pELS_flank | ENSG00000214941 | 1,416 | ENSG00000214941 | 1,415 | 1,415 | ENSG00000214941 | distal | NA | NA | |
17 | 16,000,288 | C | A | false | missense_variant | 824 | rs758853 | 0.003932 | 0.47219 | 414.35 | missense_variant | missense_variant | ENSG00000011295 | 42 | ENSG00000011295 | 0 | 0 | ENSG00000011295 | missense_variant | ENSG00000011295 | 463 | ENSG00000011295 | 453 | 453 | ENSG00000011295 | missense_variant | NA | NA | |
17 | 16,025,571 | A | G | false | tss_proximal | 904 | rs2157992 | 0.005958 | 0.46542 | 421.45 | intron_variant | pELS_flank | ENSG00000011295 | 399 | ENSG00000011295 | 399 | 399 | ENSG00000011295 | tss_proximal | ENSG00000011295 | 418 | ENSG00000011295 | 952 | 418 | ENSG00000011295 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 16,056,876 | A | G | false | tss_proximal | 904 | rs4791660 | 0.003807 | 0.46701 | 422.17 | intron_variant | intron_variant | ENSG00000141027 | 637 | ENSG00000141027 | 97 | 97 | ENSG00000141027 | tss_proximal | ENSG00000141027 | 846 | ENSG00000141027 | 1,058 | 846 | ENSG00000141027 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 16,080,029 | G | T | false | synonymous_variant | 896 | rs61753151 | 0.000191 | 0.006869 | 96.247 | synonymous_variant | synonymous_variant | ENSG00000141027 | 0 | ENSG00000141027 | 0 | 0 | ENSG00000141027 | synonymous_variant | ENSG00000141027 | 21 | ENSG00000141027 | 483 | 21 | ENSG00000141027 | synonymous_variant | NA | NA | |
17 | 16,080,144 | G | A | false | tss_proximal | 867 | rs118072442 | 0.000092 | 0.026723 | 42.802 | intron_variant | dELS_flank | ENSG00000141027 | 79 | ENSG00000141027 | 79 | 79 | ENSG00000141027 | tss_proximal | ENSG00000141027 | 136 | ENSG00000141027 | 368 | 136 | ENSG00000141027 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 16,140,746 | G | A | false | distal | 933 | rs138285358 | 0.000144 | 0.004907 | 130.44 | intron_variant | TF_flank | ENSG00000141027 | 1,559 | ENSG00000141027 | 1,559 | 1,559 | ENSG00000141027 | TF_flank | ENSG00000141027 | 48,827 | ENSG00000199674 | 2,873 | 2,873 | ENSG00000199674 | distal | NA | NA | |
17 | 16,141,126 | C | T | false | distal | 933 | rs75011386 | 0.000147 | 0.0049 | 130.56 | intron_variant | TF_flank | ENSG00000141027 | 1,939 | ENSG00000141027 | 1,939 | 1,939 | ENSG00000141027 | TF_flank | ENSG00000141027 | 49,207 | ENSG00000199674 | 3,253 | 3,253 | ENSG00000199674 | distal | NA | NA | |
17 | 16,193,830 | T | C | false | tss_proximal | 904 | rs178811 | 0.008362 | 0.46679 | 424.34 | intron_variant | PLS_flank | ENSG00000141027 | 631 | ENSG00000141027 | 631 | 631 | ENSG00000141027 | tss_proximal | ENSG00000141027 | 782 | ENSG00000141027 | 780 | 780 | ENSG00000141027 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 16,215,933 | G | C | false | 5_prime_UTR_variant | 886 | rs28372800 | 0.00013 | 0.004917 | 130.34 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000141027 | 0 | ENSG00000141027 | 384 | 0 | ENSG00000141027 | 5_prime_UTR_variant | ENSG00000141027 | 395 | ENSG00000141027 | 384 | 384 | ENSG00000141027 | 5_prime_UTR_variant | NA | NA | |
17 | 16,427,887 | G | C | false | tss_proximal | 899 | rs148397147 | 0.000447 | 0.007629 | 19.844 | intron_variant | pELS_flank | ENSG00000187688 | 339 | ENSG00000239203 | 339 | 339 | ENSG00000187688 | tss_proximal | ENSG00000187688 | 488 | ENSG00000239203 | 412 | 412 | ENSG00000239203 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 16,445,100 | C | T | false | distal | 884 | rs4327089 | 0.000179 | 0.37383 | 145.02 | intron_variant | dELS | ENSG00000181350 | 968 | ENSG00000181350 | 968 | 968 | ENSG00000181350 | dELS | ENSG00000187688 | 12,861 | ENSG00000181350 | 3,193 | 3,193 | ENSG00000181350 | distal | NA | NA |
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