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
22,864,990
A
G
false
missense_variant
109
rs56180036
0.000157
0.001015
4.9136
missense_variant
missense_variant
ENSG00000133216
0
ENSG00000133216
0
0
ENSG00000133216
missense_variant
ENSG00000133216
89,811
ENSG00000133216
168
168
ENSG00000133216
missense_variant
NA
NA
1
22,865,015
G
A
false
missense_variant
109
rs141626076
0.000027
0.000113
10.198
missense_variant
missense_variant
ENSG00000133216
0
ENSG00000133216
0
0
ENSG00000133216
missense_variant
ENSG00000133216
89,836
ENSG00000133216
143
143
ENSG00000133216
missense_variant
NA
NA
1
22,865,020
G
A
false
missense_variant
109
rs200609603
0.000143
0.000192
2.7038
missense_variant
missense_variant
ENSG00000133216
0
ENSG00000133216
0
0
ENSG00000133216
missense_variant
ENSG00000133216
89,841
ENSG00000133216
138
138
ENSG00000133216
missense_variant
NA
NA
1
23,015,700
C
G
false
tss_proximal
190
rs10917344
0.004507
0.49023
250.67
intron_variant
CA
ENSG00000227868
71
ENSG00000004487
3,742
71
ENSG00000227868
tss_proximal
ENSG00000227868
151
ENSG00000004487
3,742
151
ENSG00000227868
tss_proximal
tss_prox:b1
tss_prox:b0
1
23,040,645
A
G
false
distal
38
rs1984576
0.003078
0.48881
251.93
intron_variant
dELS
ENSG00000004487
3,781
ENSG00000263793
3,659
3,659
ENSG00000263793
dELS
ENSG00000004487
21,176
ENSG00000263793
3,659
3,659
ENSG00000263793
distal
NA
NA
1
23,091,660
C
T
false
missense_variant
93
rs10799790
0.003119
0.16249
239.18
missense_variant
missense_variant
ENSG00000169641
0
ENSG00000240553
3,601
0
ENSG00000169641
missense_variant
ENSG00000004487
12,646
ENSG00000240553
3,601
3,601
ENSG00000240553
missense_variant
NA
NA
1
23,368,146
G
A
false
5_prime_UTR_variant
124
rs683204
0.00053
0.11236
154.24
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000125945
0
ENSG00000249087
792
0
ENSG00000125945
5_prime_UTR_variant
ENSG00000125945
239
ENSG00000249087
792
239
ENSG00000125945
5_prime_UTR_variant
NA
NA
1
23,383,982
C
T
true
3_prime_UTR_variant
131
rs2298632
0.96579
HDLC
0.49916
132.63
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000204219
0
ENSG00000271420
4,952
0
ENSG00000204219
3_prime_UTR_variant
ENSG00000125945
14,145
ENSG00000271420
4,952
4,952
ENSG00000271420
3_prime_UTR_variant
NA
NA
1
23,386,132
G
A
false
distal
30
rs12126283
0.002087
0.05714
94.69
intron_variant
dELS
ENSG00000204219
1,140
ENSG00000271420
7,102
1,140
ENSG00000204219
dELS
ENSG00000125945
16,295
ENSG00000271420
7,102
7,102
ENSG00000271420
distal
NA
NA
1
23,485,411
C
T
false
tss_proximal
137
rs12562266
0.00036
0.024294
109.95
upstream_gene_variant
pELS
ENSG00000088280
842
ENSG00000088280
1,218
842
ENSG00000088280
tss_proximal
ENSG00000088280
842
ENSG00000088280
1,218
842
ENSG00000088280
tss_proximal
tss_prox:b1
tss_prox:b1
1
23,521,037
C
T
true
missense_variant
78
rs2229297
0.93433
MCH
0.01122
12.737
missense_variant
missense_variant
ENSG00000007968
0
ENSG00000007968
1,640
0
ENSG00000007968
missense_variant
ENSG00000007968
10,195
ENSG00000007968
1,640
1,640
ENSG00000007968
missense_variant
NA
NA
1
23,521,045
G
A
false
missense_variant
78
rs116694174
0.000275
0.004852
7.1859
missense_variant
missense_variant
ENSG00000007968
0
ENSG00000007968
1,648
0
ENSG00000007968
missense_variant
ENSG00000007968
10,187
ENSG00000007968
1,648
1,648
ENSG00000007968
missense_variant
NA
NA
1
23,750,961
C
T
false
missense_variant
83
rs2235541
0.001686
0.093874
38.242
missense_variant
missense_variant
ENSG00000011007
0
ENSG00000011007
0
0
ENSG00000011007
missense_variant
ENSG00000011007
7,489
ENSG00000011007
6,926
6,926
ENSG00000011007
missense_variant
NA
NA
1
24,048,374
C
T
false
distal
42
rs11248990
0.001301
0.19726
92.092
intron_variant
dELS
ENSG00000142661
7,660
ENSG00000225315
6,028
6,028
ENSG00000225315
dELS
ENSG00000142661
18,204
ENSG00000225315
7,538
7,538
ENSG00000225315
distal
NA
NA
1
24,051,316
T
A
false
distal
42
rs7538264
0.001194
0.1973
92.032
intron_variant
dELS
ENSG00000142661
4,718
ENSG00000142661
4,779
4,718
ENSG00000142661
dELS
ENSG00000142661
15,262
ENSG00000225315
10,480
10,480
ENSG00000225315
distal
NA
NA
1
24,051,454
T
C
false
distal
42
rs7540557
0.001279
0.19731
92.073
intron_variant
dELS
ENSG00000142661
4,580
ENSG00000142661
4,641
4,580
ENSG00000142661
dELS
ENSG00000142661
15,124
ENSG00000225315
10,618
10,618
ENSG00000225315
distal
NA
NA
1
24,061,332
T
A
false
splicing
188
rs7553075
0.001525
0.21173
92.018
intron_variant
intron_variant
ENSG00000142661
22
ENSG00000225315
2,714
22
ENSG00000142661
exon_proximal
ENSG00000142661
5,246
ENSG00000230703
5,441
5,246
ENSG00000142661
splicing
NA
splicing:b1
1
24,082,701
C
T
false
missense_variant
101
rs4320729
0.001042
0.43487
139.26
missense_variant
missense_variant
ENSG00000142661
0
ENSG00000142661
0
0
ENSG00000142661
missense_variant
ENSG00000142661
16,121
ENSG00000142661
1,430
1,430
ENSG00000142661
missense_variant
NA
NA
1
24,430,534
A
G
false
distal
130
rs7541523
0.000504
0.38864
151.25
intron_variant
CA
ENSG00000001461
2,569
ENSG00000001461
8,423
2,569
ENSG00000001461
CA
ENSG00000001461
14,719
ENSG00000001460
13,599
13,599
ENSG00000001460
distal
NA
NA
1
24,430,639
C
T
false
distal
130
rs7530010
0.001215
0.36391
134.86
intron_variant
CA
ENSG00000001461
2,464
ENSG00000001461
8,528
2,464
ENSG00000001461
CA
ENSG00000001461
14,824
ENSG00000001460
13,704
13,704
ENSG00000001460
distal
NA
NA
1
24,458,903
C
T
false
missense_variant
114
rs2272935
0.004092
0.25778
132.66
missense_variant
missense_variant
ENSG00000001461
0
ENSG00000288982
17,458
0
ENSG00000001461
missense_variant
ENSG00000001461
2,736
ENSG00000288982
17,458
2,736
ENSG00000001461
missense_variant
NA
NA
1
24,481,031
C
A
false
distal
38
rs2473456
0.002155
0.48043
147.03
intergenic_variant
dELS
ENSG00000001461
8,054
ENSG00000288982
4,291
4,291
ENSG00000288982
dELS
ENSG00000117602
21,319
ENSG00000288982
4,668
4,668
ENSG00000288982
distal
NA
NA
1
24,568,762
T
C
false
distal
154
rs2776734
0.000101
0.37434
67.615
intron_variant
TF
ENSG00000184454
12,592
ENSG00000227312
4,787
4,787
ENSG00000227312
TF
ENSG00000184454
12,674
ENSG00000227312
5,134
5,134
ENSG00000227312
distal
NA
NA
1
24,666,610
A
T
false
non_coding_transcript_exon_variant
117
rs111281328
0.00069
0.04923
34.698
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000133226
204
ENSG00000133226
0
0
ENSG00000133226
non_coding_transcript_exon_variant
ENSG00000133226
23,050
ENSG00000133226
54
54
ENSG00000133226
non_coding_transcript_exon_variant
NA
NA
1
24,914,625
A
G
true
distal
38
rs9438876
0.99947
FEV1FVC
0.48686
31.461
intron_variant
dELS
ENSG00000020633
4,614
ENSG00000020633
4,614
4,614
ENSG00000020633
dELS
ENSG00000020633
15,650
ENSG00000278034
4,790
4,790
ENSG00000278034
distal
NA
NA
1
24,965,206
C
T
true
tss_proximal
136
rs188468174
1
AG,Alb,Balding_Type4,NAP
0.014671
28.562
upstream_gene_variant
PLS
ENSG00000020633
195
ENSG00000020633
84
84
ENSG00000020633
tss_proximal
ENSG00000020633
195
ENSG00000020633
84
84
ENSG00000020633
tss_proximal
tss_prox:b1
tss_prox:b1
1
25,039,547
C
A
false
distal
152
rs434956
0.004014
0.13183
79.766
intergenic_variant
pELS
ENSG00000020633
74,536
ENSG00000285823
1,588
1,588
ENSG00000285823
pELS
ENSG00000020633
74,536
ENSG00000285823
1,588
1,588
ENSG00000285823
distal
NA
NA
1
25,041,096
T
A
false
tss_proximal
180
rs114715932
0.000273
0.034388
28.652
upstream_gene_variant
pELS_flank
ENSG00000020633
76,085
ENSG00000285823
39
39
ENSG00000285823
tss_proximal
ENSG00000020633
76,085
ENSG00000285823
39
39
ENSG00000285823
tss_proximal
tss_prox:b2
tss_prox:b2
1
25,173,273
G
A
false
distal
157
rs6686564
0.000095
0.28728
95.163
intergenic_variant
intergenic_variant
ENSG00000117614
49,002
ENSG00000231953
34,865
34,865
ENSG00000231953
intergenic_variant
ENSG00000117614
59,212
ENSG00000231953
34,865
34,865
ENSG00000231953
distal
NA
NA
1
25,173,296
G
C
false
distal
157
rs6686568
0.000064
0.2656
99.798
intergenic_variant
intergenic_variant
ENSG00000117614
48,979
ENSG00000231953
34,842
34,842
ENSG00000231953
intergenic_variant
ENSG00000117614
59,189
ENSG00000231953
34,842
34,842
ENSG00000231953
distal
NA
NA
1
25,173,317
A
G
false
distal
157
rs11588632
0.000061
0.26348
99.476
intergenic_variant
intergenic_variant
ENSG00000117614
48,958
ENSG00000231953
34,821
34,821
ENSG00000231953
intergenic_variant
ENSG00000117614
59,168
ENSG00000231953
34,821
34,821
ENSG00000231953
distal
NA
NA
1
25,274,256
C
A
true
distal
145
rs139898146
1
MCV,Plt
0.41531
136.34
intron_variant
intron_variant
ENSG00000187010
1,560
ENSG00000187010
1,560
1,560
ENSG00000187010
intron_variant
ENSG00000187010
1,707
ENSG00000187010
1,707
1,707
ENSG00000187010
distal
NA
NA
1
25,351,114
G
A
true
distal
6
rs72660919
1
HbA1c
0.13313
64.255
intron_variant
dELS_flank
ENSG00000183726
511
ENSG00000183726
511
511
ENSG00000183726
dELS_flank
ENSG00000183726
12,779
ENSG00000183726
8,521
8,521
ENSG00000183726
distal
NA
NA
1
25,551,001
C
T
true
distal
39
rs75446219
0.9999
Plt
0.035202
33.595
intron_variant
dELS
ENSG00000157978
2,920
ENSG00000157978
965
965
ENSG00000157978
dELS
ENSG00000157978
7,394
ENSG00000157978
1,039
1,039
ENSG00000157978
distal
NA
NA
1
25,746,751
G
A
false
missense_variant
84
rs75075607
0.00013
0.024656
44.524
missense_variant
missense_variant
ENSG00000117643
0
ENSG00000117643
0
0
ENSG00000117643
missense_variant
ENSG00000117643
37,148
ENSG00000117643
25,317
25,317
ENSG00000117643
missense_variant
NA
NA
1
25,782,746
A
G
false
distal
11
rs12567324
0.000607
0.37415
76.792
intron_variant
dELS_flank
ENSG00000117643
45
ENSG00000117643
45
45
ENSG00000117643
dELS_flank
ENSG00000162430
17,446
ENSG00000117643
2,031
2,031
ENSG00000117643
distal
NA
NA
1
25,782,816
G
C
false
distal
11
rs2072746
0.000512
0.37539
76.295
intron_variant
dELS_flank
ENSG00000117643
115
ENSG00000117643
115
115
ENSG00000117643
dELS_flank
ENSG00000162430
17,376
ENSG00000117643
2,101
2,101
ENSG00000117643
distal
NA
NA
1
25,925,309
C
T
false
distal
17
rs541104755
0.000146
0.011345
21.7
intergenic_variant
dELS_flank
ENSG00000117632
18,317
ENSG00000283938
18,854
18,317
ENSG00000117632
dELS_flank
ENSG00000117632
18,317
ENSG00000283938
18,854
18,317
ENSG00000117632
distal
NA
NA
1
25,966,014
A
T
false
distal
153
rs4659399
0.000109
0.36387
180.67
intron_variant
pELS
ENSG00000158006
3,930
ENSG00000207237
1,713
1,713
ENSG00000207237
pELS
ENSG00000158006
31,606
ENSG00000207237
1,816
1,816
ENSG00000207237
distal
NA
NA
1
25,978,508
A
G
false
distal
33
rs298443
0.000069
0.20971
223.01
intron_variant
dELS
ENSG00000158006
1,734
ENSG00000158006
3,855
1,734
ENSG00000158006
dELS
ENSG00000158006
19,112
ENSG00000158006
5,600
5,600
ENSG00000158006
distal
NA
NA
1
26,007,693
C
T
false
distal
153
rs12064124
0.000062
0.36342
179.7
intergenic_variant
pELS
ENSG00000158006
9,629
ENSG00000252691
1,393
1,393
ENSG00000252691
pELS
ENSG00000158006
9,629
ENSG00000252691
1,476
1,476
ENSG00000252691
distal
NA
NA
1
26,180,902
C
T
false
splicing
169
rs201621670
0.000053
0.000403
3.4944
splice_donor_region_variant
splice_donor_region_variant
ENSG00000142675
5
ENSG00000142675
0
0
ENSG00000142675
splice_donor_region_variant
ENSG00000142675
733
ENSG00000142675
684
684
ENSG00000142675
splicing
NA
splicing:b1
1
26,185,483
T
C
false
distal
7
rs564333411
0.000043
0.001132
5.4457
intron_variant
dELS_flank
ENSG00000142675
296
ENSG00000142675
296
296
ENSG00000142675
dELS_flank
ENSG00000188782
5,077
ENSG00000142675
1,431
1,431
ENSG00000142675
distal
NA
NA
1
26,191,282
T
C
false
splicing
183
rs11247865
0.001618
0.18932
266.8
splice_region_variant
splice_region_variant
ENSG00000188782
4
ENSG00000188782
4
4
ENSG00000188782
splice_region_variant
ENSG00000188782
679
ENSG00000188782
653
653
ENSG00000188782
splicing
NA
splicing:b0
1
26,272,755
A
C
false
distal
7
rs537434719
0.000059
0.001278
9.8478
intron_variant
dELS_flank
ENSG00000130695
683
ENSG00000130695
361
361
ENSG00000130695
dELS_flank
ENSG00000142669
7,330
ENSG00000130695
1,289
1,289
ENSG00000130695
distal
NA
NA
1
26,297,988
C
A
false
missense_variant
86
rs61750046
0.000311
0.008269
8.3132
missense_variant
missense_variant
ENSG00000158062
0
ENSG00000158062
0
0
ENSG00000158062
missense_variant
ENSG00000158062
5,027
ENSG00000158062
37
37
ENSG00000158062
missense_variant
NA
NA
1
26,411,891
T
C
true
distal
150
rs35184161
0.99929
Height
0.044346
26.455
intron_variant
pELS
ENSG00000131914
308
ENSG00000117682
20,390
308
ENSG00000131914
pELS
ENSG00000131914
1,073
ENSG00000117682
20,390
1,073
ENSG00000131914
distal
NA
NA
1
26,481,121
G
A
false
distal
30
rs145575326
0.000116
0.053791
39.648
intergenic_variant
dELS
ENSG00000198830
4,478
ENSG00000198830
5,494
4,478
ENSG00000198830
dELS
ENSG00000198830
8,605
ENSG00000198830
7,691
7,691
ENSG00000198830
distal
NA
NA
1
26,574,244
C
G
false
3_prime_UTR_variant
132
rs282179
0.004599
0.22564
76.172
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000117676
0
ENSG00000117676
0
0
ENSG00000117676
3_prime_UTR_variant
ENSG00000117676
1,973
ENSG00000117676
3,014
1,973
ENSG00000117676
3_prime_UTR_variant
NA
NA
1
26,695,422
G
C
true
tss_proximal
137
rs114165349
0.999565
ALT,SHBG,TG,UA
0.023374
84.56
intron_variant
PLS_flank
ENSG00000117713
592
ENSG00000260063
1,290
592
ENSG00000117713
tss_proximal
ENSG00000117713
592
ENSG00000260063
1,290
592
ENSG00000117713
tss_proximal
tss_prox:b1
tss_prox:b1
1
26,788,698
G
A
false
5_prime_UTR_variant
125
rs113210202
0.000407
0.012258
20.499
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000060642
0
ENSG00000060642
0
0
ENSG00000060642
5_prime_UTR_variant
ENSG00000060642
229
ENSG00000060642
610
229
ENSG00000060642
5_prime_UTR_variant
NA
NA
1
26,853,597
A
C
true
distal
40
rs75460349
0.911215
ALP
0.023521
84.264
intron_variant
dELS
ENSG00000204160
128
ENSG00000204160
385
128
ENSG00000204160
dELS
ENSG00000204160
3,234
ENSG00000204160
2,467
2,467
ENSG00000204160
distal
NA
NA
1
26,977,393
C
T
true
distal
154
rs3010106
0.99178
eBMD
0.38879
83.136
intergenic_variant
TF
ENSG00000253368
16,298
ENSG00000172746
2,771
2,771
ENSG00000172746
TF
ENSG00000253368
16,298
ENSG00000172746
2,771
2,771
ENSG00000172746
distal
NA
NA
1
27,296,637
G
A
false
distal
36
rs3813790
0.000249
0.19816
99.052
intron_variant
dELS
ENSG00000142784
235
ENSG00000142784
235
235
ENSG00000142784
dELS
ENSG00000186501
25,507
ENSG00000142784
8,376
8,376
ENSG00000142784
distal
NA
NA
1
27,333,995
G
A
false
missense_variant
100
rs139999505
0.000033
0.000543
2.8599
missense_variant
missense_variant
ENSG00000186501
0
ENSG00000186501
0
0
ENSG00000186501
missense_variant
ENSG00000142765
8,024
ENSG00000186501
531
531
ENSG00000186501
missense_variant
NA
NA
1
27,334,251
T
G
false
missense_variant
100
rs150291870
0.000841
0.000125
1.4559
missense_variant
missense_variant
ENSG00000186501
0
ENSG00000186501
0
0
ENSG00000186501
missense_variant
ENSG00000142765
7,768
ENSG00000186501
787
787
ENSG00000186501
missense_variant
NA
NA
1
27,356,039
C
G
false
missense_variant
81
rs17162549
0.000511
0.035807
76.304
missense_variant
missense_variant
ENSG00000142733
0
ENSG00000142733
0
0
ENSG00000142733
missense_variant
ENSG00000142733
431
ENSG00000142733
1,127
431
ENSG00000142733
missense_variant
NA
NA
1
27,360,494
C
A
false
distal
40
rs114065221
0.000132
0.024287
76.352
intron_variant
dELS
ENSG00000142733
125
ENSG00000142733
125
125
ENSG00000142733
dELS
ENSG00000142733
4,022
ENSG00000142733
2,234
2,234
ENSG00000142733
distal
NA
NA
1
27,364,301
C
A
false
missense_variant
72
rs41291098
0.000616
0.004998
13.559
missense_variant
missense_variant
ENSG00000142733
0
ENSG00000142733
0
0
ENSG00000142733
missense_variant
ENSG00000142733
2,556
ENSG00000142733
466
466
ENSG00000142733
missense_variant
NA
NA
1
27,418,866
C
T
false
distal
48
rs189733068
0.000189
0.002358
17.855
intron_variant
dELS
ENSG00000158195
87
ENSG00000231207
28,720
87
ENSG00000158195
dELS
ENSG00000181773
26,243
ENSG00000231207
29,397
26,243
ENSG00000181773
distal
NA
NA
1
27,550,705
C
T
false
missense_variant
106
rs147276945
0.000221
0.010911
15.812
missense_variant
missense_variant
ENSG00000126705
0
ENSG00000126705
163
0
ENSG00000126705
missense_variant
ENSG00000126705
52,773
ENSG00000126705
2,839
2,839
ENSG00000126705
missense_variant
NA
NA
1
27,822,261
G
A
false
missense_variant
98
rs199785114
0.000047
0.004742
9.9709
missense_variant
missense_variant
ENSG00000117758
0
ENSG00000270031
1,919
0
ENSG00000117758
missense_variant
ENSG00000117751
8,520
ENSG00000223062
2,276
2,276
ENSG00000223062
missense_variant
NA
NA
1
27,945,270
G
A
false
missense_variant
77
rs141035438
0.000559
0.000605
10.896
missense_variant
missense_variant
ENSG00000130768
0
ENSG00000130768
0
0
ENSG00000130768
missense_variant
ENSG00000130768
10,159
ENSG00000130768
10,213
10,159
ENSG00000130768
missense_variant
NA
NA
1
28,262,821
C
G
false
distal
34
rs12138793
0.00225
0.32614
306.4
intron_variant
dELS
ENSG00000130766
2,883
ENSG00000271398
15,252
2,883
ENSG00000130766
dELS
ENSG00000130766
3,302
ENSG00000271398
15,676
3,302
ENSG00000130766
distal
NA
NA
1
28,262,824
A
T
false
distal
34
rs12127864
0.004584
0.32161
300.21
intron_variant
dELS
ENSG00000130766
2,886
ENSG00000271398
15,255
2,886
ENSG00000130766
dELS
ENSG00000130766
3,305
ENSG00000271398
15,679
3,305
ENSG00000130766
distal
NA
NA
1
28,263,759
C
T
false
distal
34
rs503048
0.004709
0.3215
300.07
intron_variant
dELS
ENSG00000130766
3,821
ENSG00000271398
16,190
3,821
ENSG00000130766
dELS
ENSG00000130766
4,240
ENSG00000271398
16,614
4,240
ENSG00000130766
distal
NA
NA
1
28,263,808
T
C
false
distal
34
rs502273
0.004462
0.32155
300.04
intron_variant
dELS
ENSG00000130766
3,870
ENSG00000271398
16,239
3,870
ENSG00000130766
dELS
ENSG00000130766
4,289
ENSG00000271398
16,663
4,289
ENSG00000130766
distal
NA
NA
1
28,553,045
C
A
false
tss_proximal
172
rs78405969
0.000024
0.016841
26.374
upstream_gene_variant
PLS
ENSG00000180098
39
ENSG00000180098
41
39
ENSG00000180098
tss_proximal
ENSG00000180098
39
ENSG00000180098
41
39
ENSG00000180098
tss_proximal
tss_prox:b0
tss_prox:b0
1
28,663,475
T
C
false
distal
10
rs6688344
0.000663
0.41797
347.03
intergenic_variant
dELS_flank
ENSG00000162419
5,302
ENSG00000274978
14,741
5,302
ENSG00000162419
dELS_flank
ENSG00000162419
5,302
ENSG00000274978
14,874
5,302
ENSG00000162419
distal
NA
NA
1
28,725,056
G
A
false
distal
162
rs61787564
0.000098
0.17989
128.64
intergenic_variant
intergenic_variant
ENSG00000162419
5,702
ENSG00000162419
9,990
5,702
ENSG00000162419
intergenic_variant
ENSG00000198492
11,564
ENSG00000198492
11,893
11,564
ENSG00000198492
distal
NA
NA
1
28,862,203
T
C
false
distal
130
rs204077
0.001303
0.36698
171.9
intron_variant
CA
ENSG00000116329
538
ENSG00000233427
8,279
538
ENSG00000116329
CA
ENSG00000159023
24,887
ENSG00000233427
15,132
15,132
ENSG00000233427
distal
NA
NA
1
29,058,080
T
C
false
tss_proximal
165
rs2788891
0.003467
0.19957
230.89
intron_variant
dELS
ENSG00000159023
508
ENSG00000159023
508
508
ENSG00000159023
tss_proximal
ENSG00000159023
4,915
ENSG00000159023
523
523
ENSG00000159023
tss_proximal
tss_prox:b2
tss_prox:b1
1
29,145,923
C
T
false
distal
153
rs2452783
0.001453
0.35819
187.21
intron_variant
pELS
ENSG00000116350
1,819
ENSG00000225750
431
431
ENSG00000225750
pELS
ENSG00000253304
22,019
ENSG00000225750
1,070
1,070
ENSG00000225750
distal
NA
NA
1
29,159,616
C
T
true
non_coding_transcript_exon_variant
117
rs113292219
0.98168
Ht
0.053917
46.635
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116350
129
ENSG00000116350
0
0
ENSG00000116350
non_coding_transcript_exon_variant
ENSG00000116350
22,265
ENSG00000116350
64
64
ENSG00000116350
non_coding_transcript_exon_variant
NA
NA
1
29,804,483
G
T
false
distal
46
rs4949476
0.000039
0.42264
60.244
intergenic_variant
dELS
ENSG00000060656
477,669
ENSG00000284676
13,885
13,885
ENSG00000284676
dELS
ENSG00000060656
567,843
ENSG00000284676
49,307
49,307
ENSG00000284676
distal
NA
NA
1
29,805,402
G
A
false
distal
46
rs35337979
0.000042
0.41625
62.36
intergenic_variant
dELS
ENSG00000060656
478,588
ENSG00000284676
14,804
14,804
ENSG00000284676
dELS
ENSG00000060656
568,762
ENSG00000284676
50,226
50,226
ENSG00000284676
distal
NA
NA
1
30,419,013
G
C
false
distal
69
rs35500178
0.000023
0.2817
38.578
intron_variant
dELS
ENSG00000289710
157,641
ENSG00000231949
1,770
1,770
ENSG00000231949
dELS
ENSG00000289710
157,811
ENSG00000231949
3,187
3,187
ENSG00000231949
distal
NA
NA
1
30,710,488
C
A
false
distal
155
rs12758995
0.000103
0.075866
63.594
downstream_gene_variant
TF
ENSG00000162510
788
ENSG00000162510
3,278
788
ENSG00000162510
TF
ENSG00000162510
13,096
ENSG00000162510
5,646
5,646
ENSG00000162510
distal
NA
NA
1
30,710,588
G
T
false
distal
155
rs12757994
0.000108
0.075879
63.594
downstream_gene_variant
TF
ENSG00000162510
688
ENSG00000162510
3,178
688
ENSG00000162510
TF
ENSG00000162510
12,996
ENSG00000162510
5,546
5,546
ENSG00000162510
distal
NA
NA
1
30,725,886
A
G
false
non_coding_transcript_exon_variant
121
rs1149048
0.00063
0.47672
78.107
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000162510
2,300
ENSG00000186056
0
0
ENSG00000186056
non_coding_transcript_exon_variant
ENSG00000162510
2,300
ENSG00000186056
165
165
ENSG00000186056
non_coding_transcript_exon_variant
NA
NA
1
30,752,875
C
T
false
distal
62
rs1746056
0.001271
0.39368
55.946
intron_variant
dELS
ENSG00000162511
4,783
ENSG00000162511
4,783
4,783
ENSG00000162511
dELS
ENSG00000162511
4,898
ENSG00000162511
4,881
4,881
ENSG00000162511
distal
NA
NA
1
30,815,496
C
T
false
non_coding_transcript_exon_variant
119
rs72657206
0.000436
0.051359
25.495
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000162512
53,969
ENSG00000229607
0
0
ENSG00000229607
non_coding_transcript_exon_variant
ENSG00000162511
57,721
ENSG00000229607
56
56
ENSG00000229607
non_coding_transcript_exon_variant
NA
NA
1
30,862,532
A
G
false
distal
154
rs2796208
0.000021
0.38504
38.247
intergenic_variant
TF
ENSG00000162512
6,933
ENSG00000235143
2,277
2,277
ENSG00000235143
TF
ENSG00000162512
16,207
ENSG00000235143
4,373
4,373
ENSG00000235143
distal
NA
NA
1
30,914,674
T
G
false
distal
155
rs61778226
0.000055
0.060354
103.76
intergenic_variant
TF
ENSG00000162512
5,915
ENSG00000266210
3,794
3,794
ENSG00000266210
TF
ENSG00000162512
5,915
ENSG00000266210
4,060
4,060
ENSG00000266210
distal
NA
NA
1
30,915,857
T
A
false
distal
154
rs34097660
0.000201
0.40683
129.07
intergenic_variant
TF
ENSG00000162512
7,098
ENSG00000266210
2,611
2,611
ENSG00000266210
TF
ENSG00000162512
7,098
ENSG00000266210
2,877
2,877
ENSG00000266210
distal
NA
NA
1
31,003,983
T
C
false
distal
49
rs12404568
0.000266
0.09547
45.689
intron_variant
dELS
ENSG00000134644
1,869
ENSG00000134644
1,869
1,869
ENSG00000134644
dELS
ENSG00000134644
8,878
ENSG00000134644
21,837
8,878
ENSG00000134644
distal
NA
NA
1
31,094,741
T
C
false
tss_proximal
176
rs4245632
0.000023
0.46283
199.54
downstream_gene_variant
pELS
ENSG00000134644
28,749
ENSG00000215900
245
245
ENSG00000215900
tss_proximal
ENSG00000134644
28,749
ENSG00000215900
816
816
ENSG00000215900
tss_proximal
tss_prox:b2
tss_prox:b2
1
31,411,333
T
C
false
distal
163
rs1934290
0.001238
0.42791
379.85
intron_variant
pELS_flank
ENSG00000168528
897
ENSG00000168528
897
897
ENSG00000168528
pELS_flank
ENSG00000168528
1,158
ENSG00000168528
1,115
1,115
ENSG00000168528
distal
NA
NA
1
31,419,345
C
T
false
distal
45
rs12164635
0.000313
0.12231
274.18
intron_variant
dELS
ENSG00000168528
4,347
ENSG00000168528
3,437
3,437
ENSG00000168528
dELS
ENSG00000168528
5,531
ENSG00000168528
5,531
5,531
ENSG00000168528
distal
NA
NA
1
31,429,432
G
A
false
missense_variant
107
rs34728687
0.000306
0.11843
264.7
missense_variant
missense_variant
ENSG00000168528
0
ENSG00000168528
0
0
ENSG00000168528
missense_variant
ENSG00000168528
15,618
ENSG00000168528
15,618
15,618
ENSG00000168528
missense_variant
NA
NA
1
31,619,609
G
A
false
missense_variant
110
rs75232948
0.000025
0.001805
4.8674
missense_variant
missense_variant
ENSG00000121764
0
ENSG00000121764
0
0
ENSG00000121764
missense_variant
ENSG00000121764
415
ENSG00000121764
568
415
ENSG00000121764
missense_variant
NA
NA
1
31,763,266
C
A
false
tss_proximal
141
rs12028238
0.000014
0.037066
37.853
intron_variant
pELS
ENSG00000121753
617
ENSG00000266580
4,530
617
ENSG00000121753
tss_proximal
ENSG00000121753
655
ENSG00000266580
4,530
655
ENSG00000121753
tss_proximal
tss_prox:b1
tss_prox:b1
1
31,790,989
G
A
false
missense_variant
99
rs35252813
0.000014
0.035589
36.273
missense_variant
missense_variant
ENSG00000134668
0
ENSG00000134668
0
0
ENSG00000134668
missense_variant
ENSG00000134668
7,726
ENSG00000254545
1,858
1,858
ENSG00000254545
missense_variant
NA
NA
1
31,814,462
G
A
false
missense_variant
81
rs61741268
0.000051
0.032469
29.201
missense_variant
missense_variant
ENSG00000134668
0
ENSG00000134668
332
0
ENSG00000134668
missense_variant
ENSG00000134668
912
ENSG00000134668
332
332
ENSG00000134668
missense_variant
NA
NA
1
32,073,322
G
C
false
tss_proximal
136
rs56173950
0.00002
0.014914
48.837
intron_variant
PLS
ENSG00000121775
270
ENSG00000203325
14
14
ENSG00000203325
tss_proximal
ENSG00000121775
382
ENSG00000203325
151
151
ENSG00000203325
tss_proximal
tss_prox:b1
tss_prox:b1
1
32,173,456
G
C
false
3_prime_UTR_variant
132
rs35378339
0.000019
0.22454
49.713
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000025800
0
ENSG00000025800
282
0
ENSG00000025800
3_prime_UTR_variant
ENSG00000084652
6,218
ENSG00000250135
2,722
2,722
ENSG00000250135
3_prime_UTR_variant
NA
NA
1
32,202,008
C
T
false
missense_variant
82
rs1407134
0.000014
0.016659
88.567
missense_variant
missense_variant
ENSG00000160050
0
ENSG00000160050
0
0
ENSG00000160050
missense_variant
ENSG00000160050
1,359
ENSG00000160050
311
311
ENSG00000160050
missense_variant
NA
NA
1
32,204,317
G
A
false
missense_variant
79
rs140234450
0.000011
0.007023
22.881
missense_variant
missense_variant
ENSG00000160050
0
ENSG00000160050
0
0
ENSG00000160050
missense_variant
ENSG00000160051
1,353
ENSG00000160050
1,086
1,086
ENSG00000160050
missense_variant
NA
NA
1
32,207,307
T
G
false
missense_variant
108
rs3903683
0.001067
0.063788
210.24
missense_variant
missense_variant
ENSG00000160051
0
ENSG00000160051
0
0
ENSG00000160051
missense_variant
ENSG00000160051
1,635
ENSG00000224066
492
492
ENSG00000224066
missense_variant
NA
NA
1
32,208,072
C
T
false
missense_variant
79
rs41306593
0.000091
0.006729
18.288
missense_variant
missense_variant
ENSG00000160051
0
ENSG00000160051
0
0
ENSG00000160051
missense_variant
ENSG00000222046
1,016
ENSG00000222046
1,023
1,016
ENSG00000222046
missense_variant
NA
NA