Datasets:
marin-dna
/
evals_complex_traits

Dataset card Data Studio Files
xet
 Community
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
6,496,525
G
A
false
missense_variant
104
rs201669114
0.000037
0.003447
5.3007
missense_variant
missense_variant
ENSG00000171680
0
ENSG00000171680
0
0
ENSG00000171680
missense_variant
ENSG00000171680
43
ENSG00000171680
43
43
ENSG00000171680
missense_variant
NA
NA
1
6,511,052
A
G
false
distal
10
rs4078185
0.001412
0.41192
116.98
intron_variant
dELS_flank
ENSG00000171680
4,893
ENSG00000171680
14,482
4,893
ENSG00000171680
dELS_flank
ENSG00000171680
4,893
ENSG00000171680
14,482
4,893
ENSG00000171680
distal
NA
NA
1
6,532,658
G
A
false
missense_variant
113
rs201335929
0.000035
0.000877
5.1695
missense_variant
missense_variant
ENSG00000162408
0
ENSG00000162408
0
0
ENSG00000162408
missense_variant
ENSG00000171680
12,583
ENSG00000162408
726
726
ENSG00000162408
missense_variant
NA
NA
1
6,539,062
A
T
false
distal
153
rs4908561
0.000292
0.34928
93.317
intron_variant
pELS
ENSG00000162408
2,767
ENSG00000253022
1,791
1,791
ENSG00000253022
pELS
ENSG00000162408
15,450
ENSG00000253022
1,791
1,791
ENSG00000253022
distal
NA
NA
1
6,713,139
C
T
false
distal
159
rs11122120
0.000701
0.33162
175.01
intergenic_variant
intergenic_variant
ENSG00000007923
11,214
ENSG00000007923
11,315
11,214
ENSG00000007923
intergenic_variant
ENSG00000007923
11,214
ENSG00000007923
11,315
11,214
ENSG00000007923
distal
NA
NA
1
6,849,151
A
T
false
distal
60
rs72638517
0.001657
0.044224
42.557
intron_variant
dELS
ENSG00000171735
22,605
ENSG00000171735
3,896
3,896
ENSG00000171735
dELS
ENSG00000171735
63,619
ENSG00000171735
3,896
3,896
ENSG00000171735
distal
NA
NA
1
6,873,941
A
C
false
tss_proximal
178
rs41278036
0.000867
0.036023
33.024
intron_variant
dELS_flank
ENSG00000171735
1,902
ENSG00000171735
114
114
ENSG00000171735
tss_proximal
ENSG00000171735
88,409
ENSG00000171735
114
114
ENSG00000171735
tss_proximal
tss_prox:b2
tss_prox:b2
1
7,777,616
G
C
false
tss_proximal
165
rs2301489
0.000951
0.20061
98.046
intron_variant
pELS_flank
ENSG00000049245
297
ENSG00000049245
297
297
ENSG00000049245
tss_proximal
ENSG00000049245
4,908
ENSG00000049245
518
518
ENSG00000049245
tss_proximal
tss_prox:b2
tss_prox:b1
1
7,851,039
C
T
false
distal
130
rs228651
0.000403
0.37371
116.43
intron_variant
CA
ENSG00000049247
116
ENSG00000049246
8,154
116
ENSG00000049247
CA
ENSG00000049247
2,025
ENSG00000049246
14,230
2,025
ENSG00000049247
distal
NA
NA
1
7,851,169
G
T
false
distal
130
rs228650
0.000386
0.37282
117.04
intron_variant
CA
ENSG00000049247
246
ENSG00000049246
8,284
246
ENSG00000049247
CA
ENSG00000049247
1,895
ENSG00000049246
14,360
1,895
ENSG00000049247
distal
NA
NA
1
7,853,530
C
T
false
tss_proximal
173
rs11121035
0.000341
0.08273
59.924
upstream_gene_variant
pELS
ENSG00000049247
17
ENSG00000049246
10,645
17
ENSG00000049247
tss_proximal
ENSG00000049247
17
ENSG00000049246
16,721
17
ENSG00000049247
tss_proximal
tss_prox:b0
tss_prox:b0
1
7,982,347
G
T
false
tss_proximal
175
rs72634217
0.000073
0.049291
42.298
intron_variant
pELS_flank
ENSG00000116288
2,516
ENSG00000200344
533
533
ENSG00000200344
tss_proximal
ENSG00000116288
16,995
ENSG00000200344
635
635
ENSG00000200344
tss_proximal
tss_prox:b2
tss_prox:b2
1
7,998,819
A
C
false
tss_proximal
175
rs115134798
0.000567
0.044228
38.297
intron_variant
CA-CTCF_flank
ENSG00000116285
5,584
ENSG00000284716
253
253
ENSG00000284716
tss_proximal
ENSG00000116285
16,813
ENSG00000284747
720
720
ENSG00000284747
tss_proximal
tss_prox:b2
tss_prox:b2
1
8,014,274
C
T
false
missense_variant
75
rs34781518
0.000053
0.011565
20.465
missense_variant
missense_variant
ENSG00000116285
0
ENSG00000116285
0
0
ENSG00000116285
missense_variant
ENSG00000116285
1,358
ENSG00000116285
12,021
1,358
ENSG00000116285
missense_variant
NA
NA
1
8,026,467
T
G
false
tss_proximal
143
rs2294890
0.004444
0.40916
183.91
upstream_gene_variant
PLS
ENSG00000116285
157
ENSG00000116285
170
157
ENSG00000116285
tss_proximal
ENSG00000116285
157
ENSG00000116285
170
157
ENSG00000116285
tss_proximal
tss_prox:b1
tss_prox:b1
1
8,363,817
G
C
false
missense_variant
103
rs2289732
0.003196
0.17176
218.98
missense_variant
missense_variant
ENSG00000142599
238
ENSG00000142599
0
0
ENSG00000142599
missense_variant
ENSG00000142599
972
ENSG00000142599
1,020
972
ENSG00000142599
missense_variant
NA
NA
1
8,363,979
C
G
false
missense_variant
103
rs9628991
0.002959
0.17204
218.98
missense_variant
missense_variant
ENSG00000142599
76
ENSG00000142599
0
0
ENSG00000142599
missense_variant
ENSG00000142599
1,134
ENSG00000142599
858
858
ENSG00000142599
missense_variant
NA
NA
1
8,447,713
G
A
true
distal
1
rs11581328
0.9903
Height
0.20899
147.54
intron_variant
dELS_flank
ENSG00000142599
9,412
ENSG00000232912
12,699
9,412
ENSG00000142599
dELS_flank
ENSG00000142599
22,500
ENSG00000232912
22,074
22,074
ENSG00000232912
distal
NA
NA
1
8,877,167
T
C
false
tss_proximal
144
rs12752143
0.000217
0.28605
112.72
intron_variant
pELS
ENSG00000074800
804
ENSG00000074800
340
340
ENSG00000074800
tss_proximal
ENSG00000074800
864
ENSG00000074800
839
839
ENSG00000074800
tss_proximal
tss_prox:b1
tss_prox:b1
1
8,928,242
C
T
false
distal
156
rs12145564
0.001321
0.33679
88.521
intergenic_variant
intergenic_variant
ENSG00000131686
17,624
ENSG00000131686
17,625
17,624
ENSG00000131686
intergenic_variant
ENSG00000131686
17,624
ENSG00000131686
17,625
17,624
ENSG00000131686
distal
NA
NA
1
8,934,053
T
C
false
distal
159
rs4418632
0.000403
0.32408
64.975
intergenic_variant
intergenic_variant
ENSG00000131686
11,813
ENSG00000131686
11,814
11,813
ENSG00000131686
intergenic_variant
ENSG00000131686
11,813
ENSG00000131686
11,814
11,813
ENSG00000131686
distal
NA
NA
1
8,939,310
T
G
false
distal
4
rs11588818
0.000483
0.34194
88.785
intergenic_variant
dELS_flank
ENSG00000131686
6,556
ENSG00000131686
6,557
6,556
ENSG00000131686
dELS_flank
ENSG00000131686
6,556
ENSG00000131686
6,557
6,556
ENSG00000131686
distal
NA
NA
1
8,944,061
A
G
false
distal
151
rs72641545
0.000344
0.10029
44.552
intergenic_variant
pELS
ENSG00000131686
1,805
ENSG00000131686
1,806
1,805
ENSG00000131686
pELS
ENSG00000131686
1,805
ENSG00000131686
1,806
1,805
ENSG00000131686
distal
NA
NA
1
8,951,940
T
C
false
3_prime_UTR_variant
131
rs6681395
0.000353
0.49587
56.78
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000131686
0
ENSG00000131686
5,974
0
ENSG00000131686
3_prime_UTR_variant
ENSG00000131686
6,052
ENSG00000131686
6,071
6,052
ENSG00000131686
3_prime_UTR_variant
NA
NA
1
9,033,898
C
A
false
distal
18
rs568412221
0.000099
0.010287
22.666
intergenic_variant
dELS_flank
ENSG00000142583
1,207
ENSG00000142583
4,532
1,207
ENSG00000142583
dELS_flank
ENSG00000197241
7,474
ENSG00000142583
5,996
5,996
ENSG00000142583
distal
NA
NA
1
9,128,930
A
G
false
missense_variant
102
rs114206792
0.000163
0.013618
17.283
missense_variant
missense_variant
ENSG00000180758
0
ENSG00000180758
148
0
ENSG00000180758
missense_variant
ENSG00000180758
171
ENSG00000180758
148
148
ENSG00000180758
missense_variant
NA
NA
1
9,181,780
G
A
true
non_coding_transcript_exon_variant
116
rs79412885
1
AST,Mono
0.074322
35.472
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000180758
52,677
ENSG00000228526
0
0
ENSG00000228526
non_coding_transcript_exon_variant
ENSG00000180758
52,677
ENSG00000234546
223
223
ENSG00000234546
non_coding_transcript_exon_variant
NA
NA
1
9,295,877
G
T
true
distal
29
rs9442514
0.99332
DVT
0.26506
46.307
intron_variant
dELS
ENSG00000171621
1,282
ENSG00000049239
24,539
1,282
ENSG00000171621
dELS
ENSG00000171621
1,348
ENSG00000049239
30,346
1,348
ENSG00000171621
distal
NA
NA
1
9,296,006
C
T
false
distal
29
rs2072734
0.008665
0.24923
31.026
intron_variant
dELS
ENSG00000171621
1,411
ENSG00000049239
24,668
1,411
ENSG00000171621
dELS
ENSG00000171621
1,477
ENSG00000049239
30,475
1,477
ENSG00000171621
distal
NA
NA
1
9,442,017
A
G
false
distal
152
rs9308451
0.000352
0.10032
35.919
intergenic_variant
pELS
ENSG00000171621
72,484
ENSG00000284693
1,452
1,452
ENSG00000284693
pELS
ENSG00000171621
86,309
ENSG00000284693
1,452
1,452
ENSG00000284693
distal
NA
NA
1
9,447,507
T
C
false
distal
54
rs12742542
0.007406
0.14487
26.707
intergenic_variant
dELS
ENSG00000171621
77,974
ENSG00000284693
6,942
6,942
ENSG00000284693
dELS
ENSG00000171621
91,799
ENSG00000284693
6,942
6,942
ENSG00000284693
distal
NA
NA
1
9,448,896
T
C
false
distal
54
rs12034064
0.000062
0.14654
34.102
intergenic_variant
dELS
ENSG00000171621
79,363
ENSG00000284693
8,331
8,331
ENSG00000284693
dELS
ENSG00000171612
90,568
ENSG00000284693
8,331
8,331
ENSG00000284693
distal
NA
NA
1
9,449,369
G
A
false
distal
54
rs11121422
0.000046
0.15034
33.444
intergenic_variant
dELS
ENSG00000171621
79,836
ENSG00000284693
8,804
8,804
ENSG00000284693
dELS
ENSG00000171612
90,095
ENSG00000284693
8,804
8,804
ENSG00000284693
distal
NA
NA
1
9,449,762
G
C
false
distal
54
rs10779726
0.002516
0.18465
26.566
intergenic_variant
dELS
ENSG00000171621
80,229
ENSG00000284693
9,197
9,197
ENSG00000284693
dELS
ENSG00000171612
89,702
ENSG00000284693
9,197
9,197
ENSG00000284693
distal
NA
NA
1
9,449,918
A
G
false
distal
54
rs10864422
0.002692
0.18472
26.536
intergenic_variant
dELS
ENSG00000171621
80,385
ENSG00000284693
9,353
9,353
ENSG00000284693
dELS
ENSG00000171612
89,546
ENSG00000284693
9,353
9,353
ENSG00000284693
distal
NA
NA
1
9,539,589
C
T
false
5_prime_UTR_variant
126
rs112358601
0.000148
0.16169
112.44
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000171612
0
ENSG00000235263
36,117
0
ENSG00000171612
5_prime_UTR_variant
ENSG00000171612
123
ENSG00000235263
36,117
123
ENSG00000171612
5_prime_UTR_variant
NA
NA
1
9,670,320
C
T
false
distal
44
rs145178353
0.000075
0.00108
59.401
intron_variant
dELS
ENSG00000171608
18,517
ENSG00000231789
2,084
2,084
ENSG00000231789
dELS
ENSG00000171608
18,550
ENSG00000233268
7,693
7,693
ENSG00000233268
distal
NA
NA
1
9,694,435
G
A
false
distal
19
rs12026241
0.000076
0.10971
40.895
intron_variant
dELS_flank
ENSG00000171608
2,863
ENSG00000171608
2,488
2,488
ENSG00000171608
dELS_flank
ENSG00000171608
4,864
ENSG00000171608
6,258
4,864
ENSG00000171608
distal
NA
NA
1
9,935,196
G
A
false
tss_proximal
138
rs1220399
0.009111
0.2141
176.58
intron_variant
dELS_flank
ENSG00000162441
295
ENSG00000162441
3,015
295
ENSG00000162441
tss_proximal
ENSG00000162441
423
ENSG00000162441
3,015
423
ENSG00000162441
tss_proximal
tss_prox:b1
tss_prox:b1
1
10,011,243
T
C
false
distal
15
rs3003376
0.002691
0.15186
211.46
intron_variant
dELS_flank
ENSG00000162444
2,968
ENSG00000162444
2,968
2,968
ENSG00000162444
dELS_flank
ENSG00000162444
14,014
ENSG00000162444
14,036
14,014
ENSG00000162444
distal
NA
NA
1
10,158,563
G
A
false
tss_proximal
185
rs190656574
0.000165
0.010854
21.803
intron_variant
intron_variant
ENSG00000130939
80
ENSG00000130939
80
80
ENSG00000130939
tss_proximal
ENSG00000130939
36,520
ENSG00000130939
208
208
ENSG00000130939
tss_proximal
tss_prox:b2
tss_prox:b0
1
10,211,630
C
G
true
5_prime_UTR_variant
124
rs11121529
0.999685
Plt
0.11408
123.87
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000054523
0
ENSG00000054523
751
0
ENSG00000054523
5_prime_UTR_variant
ENSG00000054523
13
ENSG00000054523
1,059
13
ENSG00000054523
5_prime_UTR_variant
NA
NA
1
10,347,833
A
C
false
splicing
169
rs114266141
0.000115
0.000068
70.868
splice_donor_region_variant
splice_donor_region_variant
ENSG00000054523
5
ENSG00000054523
5
5
ENSG00000054523
splice_donor_region_variant
ENSG00000054523
4,830
ENSG00000054523
2,211
2,211
ENSG00000054523
splicing
NA
splicing:b1
1
10,413,143
G
A
false
missense_variant
94
rs2229688
0.000416
0.017512
121.67
missense_variant
missense_variant
ENSG00000142657
0
ENSG00000142657
0
0
ENSG00000142657
missense_variant
ENSG00000142657
13,510
ENSG00000142657
308
308
ENSG00000142657
missense_variant
NA
NA
1
10,430,482
G
C
false
5_prime_UTR_variant
129
rs661256
0.000803
0.073032
157.22
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000251503
0
ENSG00000271989
0
0
ENSG00000251503
5_prime_UTR_variant
ENSG00000251503
46
ENSG00000175279
29
29
ENSG00000175279
5_prime_UTR_variant
NA
NA
1
10,430,493
G
C
false
5_prime_UTR_variant
129
rs661272
0.000802
0.073032
157.22
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000251503
0
ENSG00000271989
0
0
ENSG00000251503
5_prime_UTR_variant
ENSG00000251503
57
ENSG00000175279
18
18
ENSG00000175279
5_prime_UTR_variant
NA
NA
1
10,591,403
C
T
true
distal
2
rs6540940
0.98386
Balding_Type4
0.0969
56.289
intron_variant
dELS_flank
ENSG00000142655
7,834
ENSG00000287727
20,818
7,834
ENSG00000142655
dELS_flank
ENSG00000130940
53,672
ENSG00000287727
25,048
25,048
ENSG00000287727
distal
NA
NA
1
10,593,571
G
T
false
distal
2
rs284272
0.000113
0.085908
40.365
intron_variant
dELS_flank
ENSG00000142655
5,666
ENSG00000287727
18,650
5,666
ENSG00000142655
dELS_flank
ENSG00000130940
51,504
ENSG00000287727
22,880
22,880
ENSG00000287727
distal
NA
NA
1
10,594,312
A
G
false
distal
2
rs284271
0.001162
0.09224
67.281
intron_variant
dELS_flank
ENSG00000142655
4,925
ENSG00000287727
17,909
4,925
ENSG00000142655
dELS_flank
ENSG00000130940
50,763
ENSG00000287727
22,139
22,139
ENSG00000287727
distal
NA
NA
1
10,630,891
C
T
true
distal
30
rs17035482
0.9969
eGFR,sCr
0.059295
52.934
downstream_gene_variant
dELS
ENSG00000142655
132
ENSG00000130940
6,229
132
ENSG00000142655
dELS
ENSG00000130940
14,184
ENSG00000130940
7,871
7,871
ENSG00000130940
distal
NA
NA
1
10,692,299
T
C
true
distal
3
rs169537
0.99998
eGFRcys
0.2895
38.555
intron_variant
dELS_flank
ENSG00000130940
1,574
ENSG00000130940
1,574
1,574
ENSG00000130940
dELS_flank
ENSG00000130940
47,222
ENSG00000130940
1,612
1,612
ENSG00000130940
distal
NA
NA
1
10,765,520
C
T
true
distal
31
rs11121615
0.99981
Varicose_Veins
0.30847
32.556
intron_variant
dELS
ENSG00000130940
4,662
ENSG00000130940
59,944
4,662
ENSG00000130940
dELS
ENSG00000130940
31,125
ENSG00000130940
59,944
31,125
ENSG00000130940
distal
NA
NA
1
10,942,574
A
G
false
distal
28
rs1281028
0.000853
0.23144
20.396
intergenic_variant
dELS
ENSG00000175262
3,898
ENSG00000175262
3,896
3,896
ENSG00000175262
dELS
ENSG00000175262
5,295
ENSG00000175262
7,176
5,295
ENSG00000175262
distal
NA
NA
1
10,950,975
G
A
false
distal
39
rs1281007
0.000191
0.036398
61.034
intron_variant
dELS
ENSG00000175262
1,160
ENSG00000175262
1,223
1,160
ENSG00000175262
dELS
ENSG00000175262
3,104
ENSG00000175262
1,223
1,223
ENSG00000175262
distal
NA
NA
1
11,030,840
A
G
false
missense_variant
94
rs2273346
0.000034
0.017251
273.41
missense_variant
missense_variant
ENSG00000009724
0
ENSG00000009724
0
0
ENSG00000009724
missense_variant
ENSG00000120948
8,695
ENSG00000120948
1,081
1,081
ENSG00000120948
missense_variant
NA
NA
1
11,046,609
T
C
false
missense_variant
81
rs72550870
0.000085
0.030336
11.082
missense_variant
missense_variant
ENSG00000009724
0
ENSG00000009724
0
0
ENSG00000009724
missense_variant
ENSG00000009724
597
ENSG00000009724
597
597
ENSG00000009724
missense_variant
NA
NA
1
11,073,986
C
T
false
missense_variant
113
rs117771172
0.00014
0.000095
70.142
missense_variant
missense_variant
ENSG00000171824
0
ENSG00000171824
0
0
ENSG00000171824
missense_variant
ENSG00000116649
13,967
ENSG00000171824
959
959
ENSG00000171824
missense_variant
NA
NA
1
11,193,627
G
T
false
missense_variant
86
rs28991009
0.000063
0.007972
23.773
missense_variant
missense_variant
ENSG00000171819
0
ENSG00000198793
0
0
ENSG00000171819
missense_variant
ENSG00000171819
4,271
ENSG00000171819
0
0
ENSG00000171819
missense_variant
NA
NA
1
11,273,755
C
T
false
missense_variant
102
rs114000606
0.00048
0.013112
12.845
missense_variant
missense_variant
ENSG00000120942
0
ENSG00000120942
133
0
ENSG00000120942
missense_variant
ENSG00000120942
178
ENSG00000120942
133
133
ENSG00000120942
missense_variant
NA
NA
1
11,460,059
C
T
false
distal
35
rs7551815
0.000765
0.42174
147.98
intergenic_variant
dELS
ENSG00000204624
19,095
ENSG00000204624
19,106
19,095
ENSG00000204624
dELS
ENSG00000204624
19,095
ENSG00000204624
19,106
19,095
ENSG00000204624
distal
NA
NA
1
11,472,954
C
T
false
distal
62
rs6674692
0.000245
0.39622
148.05
intergenic_variant
dELS
ENSG00000204624
6,200
ENSG00000204624
6,211
6,200
ENSG00000204624
dELS
ENSG00000204624
6,200
ENSG00000204624
6,211
6,200
ENSG00000204624
distal
NA
NA
1
11,656,010
G
A
false
missense_variant
87
rs150648343
0.000036
0.028892
9.0522
missense_variant
missense_variant
ENSG00000132879
0
ENSG00000116661
1,812
0
ENSG00000132879
missense_variant
ENSG00000132879
54
ENSG00000116661
1,812
54
ENSG00000132879
missense_variant
NA
NA
1
11,673,018
T
C
false
non_coding_transcript_exon_variant
120
rs747862
0.00004
0.2303
38.945
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116663
258
ENSG00000116670
0
0
ENSG00000116670
non_coding_transcript_exon_variant
ENSG00000116663
4,321
ENSG00000116670
2,703
2,703
ENSG00000116670
non_coding_transcript_exon_variant
NA
NA
1
11,768,181
G
A
false
missense_variant
105
rs4845880
0.000041
0.3284
135.28
missense_variant
missense_variant
ENSG00000215910
0
ENSG00000215910
0
0
ENSG00000215910
missense_variant
ENSG00000215910
3,940
ENSG00000215910
1,438
1,438
ENSG00000215910
missense_variant
NA
NA
1
11,768,262
G
A
false
missense_variant
105
rs4845881
0.000042
0.32853
135.03
missense_variant
missense_variant
ENSG00000215910
0
ENSG00000215910
0
0
ENSG00000215910
missense_variant
ENSG00000215910
3,859
ENSG00000215910
1,519
1,519
ENSG00000215910
missense_variant
NA
NA
1
11,776,625
C
T
false
missense_variant
96
rs7538516
0.000076
0.39046
173.72
missense_variant
missense_variant
ENSG00000215910
0
ENSG00000215910
0
0
ENSG00000215910
missense_variant
ENSG00000215910
2,305
ENSG00000177553
2,993
2,305
ENSG00000215910
missense_variant
NA
NA
1
11,778,791
G
T
false
missense_variant
96
rs6697244
0.00008
0.39056
173.76
missense_variant
missense_variant
ENSG00000215910
0
ENSG00000177553
0
0
ENSG00000215910
missense_variant
ENSG00000215910
139
ENSG00000177553
827
139
ENSG00000215910
missense_variant
NA
NA
1
11,779,909
G
A
false
missense_variant
96
rs4846043
0.000077
0.39054
173.77
missense_variant
missense_variant
ENSG00000215910
0
ENSG00000177553
289
0
ENSG00000215910
missense_variant
ENSG00000215910
91
ENSG00000177553
289
91
ENSG00000215910
missense_variant
NA
NA
1
11,812,599
C
T
false
distal
19
rs6687229
0.001228
0.10818
202.85
intron_variant
dELS_flank
ENSG00000011021
3,246
ENSG00000011021
3,246
3,246
ENSG00000011021
dELS_flank
ENSG00000011021
6,338
ENSG00000177000
6,143
6,143
ENSG00000177000
distal
NA
NA
1
11,813,439
G
A
false
distal
19
rs145628269
0.001623
0.10577
201.67
intron_variant
dELS_flank
ENSG00000011021
2,406
ENSG00000011021
2,406
2,406
ENSG00000011021
dELS_flank
ENSG00000011021
7,178
ENSG00000177000
6,983
6,983
ENSG00000177000
distal
NA
NA
1
11,813,449
A
G
false
distal
19
rs138252948
0.001722
0.10583
201.7
intron_variant
dELS_flank
ENSG00000011021
2,396
ENSG00000011021
2,396
2,396
ENSG00000011021
dELS_flank
ENSG00000011021
7,188
ENSG00000177000
6,993
6,993
ENSG00000177000
distal
NA
NA
1
11,830,048
G
A
false
non_coding_transcript_exon_variant
117
rs41275486
0.00472
0.055676
150.02
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000011021
725
ENSG00000011021
0
0
ENSG00000011021
non_coding_transcript_exon_variant
ENSG00000175206
17,734
ENSG00000011021
198
198
ENSG00000011021
non_coding_transcript_exon_variant
NA
NA
1
11,848,089
C
G
true
5_prime_UTR_variant
125
rs41300100
1
MAP,PP,SBP
0.010641
47.372
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000175206
0
ENSG00000011021
9
0
ENSG00000175206
5_prime_UTR_variant
ENSG00000175206
255
ENSG00000275915
646
255
ENSG00000175206
5_prime_UTR_variant
NA
NA
1
12,014,253
C
T
false
splicing
184
rs6691513
0.00081
0.051032
92.539
splice_region_variant
splice_region_variant
ENSG00000116688
3
ENSG00000116688
744
3
ENSG00000116688
splice_region_variant
ENSG00000116691
5,244
ENSG00000270914
3,054
3,054
ENSG00000270914
splicing
NA
splicing:b0
1
12,039,288
A
G
true
distal
32
rs35249183
1
Eosino
0.099751
53.631
intergenic_variant
dELS
ENSG00000116691
7,242
ENSG00000243539
2,273
2,273
ENSG00000243539
dELS
ENSG00000116691
19,789
ENSG00000243539
2,273
2,273
ENSG00000243539
distal
NA
NA
1
12,115,601
G
A
true
missense_variant
73
rs2230624
1
Asthma,DVT,Eosino
0.014946
15.876
missense_variant
missense_variant
ENSG00000120949
0
ENSG00000120949
0
0
ENSG00000120949
missense_variant
ENSG00000120949
10,297
ENSG00000120949
10,332
10,297
ENSG00000120949
missense_variant
NA
NA
1
12,124,318
T
C
false
distal
163
rs8179353
0.000168
0.42725
23.255
intron_variant
pELS_flank
ENSG00000120949
490
ENSG00000120949
490
490
ENSG00000120949
pELS_flank
ENSG00000120949
1,580
ENSG00000120949
1,615
1,580
ENSG00000120949
distal
NA
NA
1
12,124,462
A
G
false
distal
163
rs17456259
0.000209
0.42644
23.281
intron_variant
pELS_flank
ENSG00000120949
634
ENSG00000120949
634
634
ENSG00000120949
pELS_flank
ENSG00000120949
1,436
ENSG00000120949
1,471
1,436
ENSG00000120949
distal
NA
NA
1
12,138,305
C
A
false
missense_variant
75
rs144498730
0.000076
0.01253
12.789
missense_variant
missense_variant
ENSG00000120949
0
ENSG00000120949
0
0
ENSG00000120949
missense_variant
ENSG00000120949
12,405
ENSG00000120949
12,370
12,370
ENSG00000120949
missense_variant
NA
NA
1
12,186,118
C
T
true
distal
33
rs474247
0.999985
Eosino
0.2179
17.311
intron_variant
dELS
ENSG00000028137
2,677
ENSG00000028137
4,838
2,677
ENSG00000028137
dELS
ENSG00000028137
19,114
ENSG00000263676
5,594
5,594
ENSG00000263676
distal
NA
NA
1
12,202,241
G
A
false
distal
36
rs5746053
0.00004
0.2024
55.401
intron_variant
dELS
ENSG00000028137
69
ENSG00000028137
69
69
ENSG00000028137
dELS
ENSG00000048707
27,788
ENSG00000028137
10,402
10,402
ENSG00000028137
distal
NA
NA
1
12,218,875
A
G
false
distal
64
rs7550488
0.000038
0.22412
16.868
intergenic_variant
dELS
ENSG00000028137
9,654
ENSG00000225196
1,918
1,918
ENSG00000225196
dELS
ENSG00000048707
11,154
ENSG00000225196
2,233
2,233
ENSG00000225196
distal
NA
NA
1
12,601,409
G
C
true
distal
34
rs12136952
0.914735
RBC
0.32957
37.798
intron_variant
dELS
ENSG00000162496
5,100
ENSG00000162496
15,150
5,100
ENSG00000162496
dELS
ENSG00000162496
5,100
ENSG00000162496
15,286
5,100
ENSG00000162496
distal
NA
NA
1
12,617,607
G
A
false
5_prime_UTR_variant
127
rs190735516
0.000021
0.009083
6.3441
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000162496
0
ENSG00000288927
781
0
ENSG00000162496
5_prime_UTR_variant
ENSG00000162496
602
ENSG00000288927
781
602
ENSG00000162496
5_prime_UTR_variant
NA
NA
1
12,719,616
C
T
false
missense_variant
93
rs3010877
0.000039
0.1729
91.832
missense_variant
missense_variant
ENSG00000188984
0
ENSG00000188984
1,266
0
ENSG00000188984
missense_variant
ENSG00000188984
3,505
ENSG00000188984
3,500
3,500
ENSG00000188984
missense_variant
NA
NA
1
13,513,275
C
T
false
missense_variant
104
rs149475966
0.000026
0.003127
20.382
missense_variant
missense_variant
ENSG00000162494
0
ENSG00000259961
0
0
ENSG00000162494
missense_variant
ENSG00000162494
727
ENSG00000259961
54
54
ENSG00000259961
missense_variant
NA
NA
1
13,778,803
G
A
false
synonymous_variant
187
rs1203678
0.000081
0.3466
107.33
synonymous_variant
synonymous_variant
ENSG00000116731
0
ENSG00000116731
5,131
0
ENSG00000116731
synonymous_variant
ENSG00000116731
7,076
ENSG00000289380
21,024
7,076
ENSG00000116731
synonymous_variant
NA
NA
1
13,797,603
G
A
false
distal
41
rs2281170
0.000004
0.37797
62.437
intron_variant
dELS
ENSG00000116731
9,523
ENSG00000116731
10,535
9,523
ENSG00000116731
dELS
ENSG00000116731
25,876
ENSG00000289380
39,824
25,876
ENSG00000116731
distal
NA
NA
1
13,797,615
G
A
false
distal
41
rs2281169
0.000012
0.34974
101.89
intron_variant
dELS
ENSG00000116731
9,535
ENSG00000116731
10,547
9,535
ENSG00000116731
dELS
ENSG00000116731
25,888
ENSG00000289380
39,836
25,888
ENSG00000116731
distal
NA
NA
1
15,341,780
G
A
false
missense_variant
96
rs763821
0.000029
0.39495
36.743
missense_variant
missense_variant
ENSG00000142621
0
ENSG00000142621
0
0
ENSG00000142621
missense_variant
ENSG00000142621
18
ENSG00000233485
2,095
18
ENSG00000142621
missense_variant
NA
NA
1
15,350,665
A
G
false
distal
63
rs2479072
0.000081
0.46918
38.436
intron_variant
dELS
ENSG00000142621
1,515
ENSG00000142621
1,515
1,515
ENSG00000142621
dELS
ENSG00000142621
5,233
ENSG00000142621
5,204
5,204
ENSG00000142621
distal
NA
NA
1
15,351,436
A
G
false
distal
63
rs7532826
0.000078
0.46916
38.429
intron_variant
dELS
ENSG00000142621
1,440
ENSG00000142621
1,440
1,440
ENSG00000142621
dELS
ENSG00000142621
6,004
ENSG00000142621
5,975
5,975
ENSG00000142621
distal
NA
NA
1
15,490,823
A
T
false
splicing
188
rs4646110
0.000242
0.20852
367.09
intron_variant
CA
ENSG00000132906
8
ENSG00000215704
471
8
ENSG00000132906
exon_proximal
ENSG00000215704
14,357
ENSG00000215704
4,961
4,961
ENSG00000215704
splicing
NA
splicing:b1
1
15,507,996
G
A
false
tss_proximal
190
rs4646032
0.001614
0.47333
284.45
intron_variant
dELS_flank
ENSG00000132906
88
ENSG00000132906
88
88
ENSG00000132906
tss_proximal
ENSG00000132906
943
ENSG00000132906
16,195
943
ENSG00000132906
tss_proximal
tss_prox:b1
tss_prox:b0
1
15,743,030
C
T
false
missense_variant
72
rs41268336
0.000112
0.004359
54.409
missense_variant
missense_variant
ENSG00000162460
0
ENSG00000162460
0
0
ENSG00000162460
missense_variant
ENSG00000162460
530
ENSG00000162460
482
482
ENSG00000162460
missense_variant
NA
NA
1
15,743,055
G
A
false
missense_variant
72
rs139059704
0.000075
0.004669
15.349
missense_variant
missense_variant
ENSG00000162460
0
ENSG00000162460
0
0
ENSG00000162460
missense_variant
ENSG00000162460
555
ENSG00000162460
507
507
ENSG00000162460
missense_variant
NA
NA
1
15,744,268
C
T
false
missense_variant
79
rs61740772
0.000031
0.006654
27.024
missense_variant
missense_variant
ENSG00000162460
0
ENSG00000162460
0
0
ENSG00000162460
missense_variant
ENSG00000162460
1,768
ENSG00000162460
1,720
1,720
ENSG00000162460
missense_variant
NA
NA
1
15,751,891
G
A
false
distal
56
rs7539501
0.000225
0.21811
78.61
intergenic_variant
dELS
ENSG00000162460
3,908
ENSG00000224459
1,994
1,994
ENSG00000224459
dELS
ENSG00000162458
4,715
ENSG00000224459
1,994
1,994
ENSG00000224459
distal
NA
NA
1
15,800,181
G
A
false
distal
4
rs2013745
0.001903
0.34099
215.74
intergenic_variant
dELS_flank
ENSG00000233954
6,987
ENSG00000224321
6,895
6,895
ENSG00000224321
dELS_flank
ENSG00000233954
7,467
ENSG00000224321
7,384
7,384
ENSG00000224321
distal
NA
NA
1
15,813,777
G
A
false
distal
34
rs2902166
0.00112
0.34122
216.48
intergenic_variant
dELS
ENSG00000233954
4,428
ENSG00000178715
14,454
4,428
ENSG00000233954
dELS
ENSG00000233954
4,428
ENSG00000178715
14,454
4,428
ENSG00000233954
distal
NA
NA