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
19
15,922,146
C
G
false
missense_variant
1,028
rs181174346
0.000026
0.001349
10.466
missense_variant
missense_variant
ENSG00000171903
0
ENSG00000267056
10,321
0
ENSG00000171903
missense_variant
ENSG00000171903
5,964
ENSG00000267056
10,321
5,964
ENSG00000171903
missense_variant
NA
NA
19
15,923,904
A
G
false
missense_variant
1,011
rs8104361
0.000898
0.18874
171.36
missense_variant
missense_variant
ENSG00000171903
0
ENSG00000267056
12,079
0
ENSG00000171903
missense_variant
ENSG00000171903
4,206
ENSG00000267056
12,079
4,206
ENSG00000171903
missense_variant
NA
NA
19
15,934,681
G
C
false
tss_proximal
983
rs11879253
0.00143
0.25487
168.55
intron_variant
PLS
ENSG00000171903
150
ENSG00000267056
22,856
150
ENSG00000171903
tss_proximal
ENSG00000171903
151
ENSG00000267056
22,856
151
ENSG00000171903
tss_proximal
tss_prox:b1
tss_prox:b1
19
16,067,777
A
C
false
synonymous_variant
1,061
rs4808031
0.001105
0.45156
24.529
synonymous_variant
synonymous_variant
ENSG00000167460
38
ENSG00000167460
0
0
ENSG00000167460
synonymous_variant
ENSG00000167460
43
ENSG00000167460
76
43
ENSG00000167460
synonymous_variant
NA
NA
19
16,073,490
T
A
false
distal
1,067
rs10418727
0.000516
0.49891
35.694
intron_variant
dELS
ENSG00000167460
2,556
ENSG00000279198
801
801
ENSG00000279198
dELS
ENSG00000167460
3,004
ENSG00000167460
2,188
2,188
ENSG00000167460
distal
NA
NA
19
16,083,694
G
A
true
distal
1,081
rs17708984
0.99929
Plt
0.28674
42.806
intron_variant
dELS
ENSG00000167460
1,647
ENSG00000167460
1,647
1,647
ENSG00000167460
dELS
ENSG00000167460
4,191
ENSG00000167460
2,149
2,149
ENSG00000167460
distal
NA
NA
19
16,095,202
C
T
true
distal
1,082
rs57843631
0.99968
Plt
0.019316
15.362
intron_variant
dELS
ENSG00000167460
61
ENSG00000167460
61
61
ENSG00000167460
dELS
ENSG00000167460
15,699
ENSG00000167460
2,310
2,310
ENSG00000167460
distal
NA
NA
19
16,178,878
C
A
false
distal
1,078
rs371703
0.000697
0.19788
169.78
intergenic_variant
dELS
ENSG00000141977
5,352
ENSG00000141977
5,402
5,352
ENSG00000141977
dELS
ENSG00000141977
5,352
ENSG00000141977
5,402
5,352
ENSG00000141977
distal
NA
NA
19
16,203,113
C
T
false
tss_proximal
1,103
rs12461400
0.000209
0.28042
187.16
intron_variant
dELS
ENSG00000072958
11
ENSG00000072958
345
11
ENSG00000072958
tss_proximal
ENSG00000072958
492
ENSG00000072958
349
349
ENSG00000072958
tss_proximal
tss_prox:b1
tss_prox:b0
19
16,266,504
C
T
false
distal
1,044
rs181581694
0.000075
0.001832
6.9881
intergenic_variant
dELS_flank
ENSG00000072958
20,597
ENSG00000267275
16,854
16,854
ENSG00000267275
dELS_flank
ENSG00000072958
38,898
ENSG00000289333
17,315
17,315
ENSG00000289333
distal
NA
NA
19
16,267,340
C
T
true
distal
1,044
rs548297587
1
Eosino
0.001506
5.0919
intergenic_variant
dELS_flank
ENSG00000072958
21,433
ENSG00000267275
16,018
16,018
ENSG00000267275
dELS_flank
ENSG00000072958
39,734
ENSG00000289333
16,479
16,479
ENSG00000289333
distal
NA
NA
19
16,267,851
C
T
false
distal
1,044
rs190975174
0.00003
0.002556
6.4221
intergenic_variant
dELS_flank
ENSG00000072958
21,944
ENSG00000267275
15,507
15,507
ENSG00000267275
dELS_flank
ENSG00000072958
40,245
ENSG00000289333
15,968
15,968
ENSG00000289333
distal
NA
NA
19
16,268,259
C
T
false
distal
1,044
rs142410601
0.000034
0.008194
6.1642
intergenic_variant
dELS_flank
ENSG00000072958
22,352
ENSG00000267275
15,099
15,099
ENSG00000267275
dELS_flank
ENSG00000072958
40,653
ENSG00000289333
15,560
15,560
ENSG00000289333
distal
NA
NA
19
16,301,280
C
A
false
distal
1,072
rs71336710
0.000225
0.11789
54.057
intron_variant
dELS
ENSG00000127528
23,545
ENSG00000267275
7,704
7,704
ENSG00000267275
dELS
ENSG00000127528
23,545
ENSG00000267275
7,704
7,704
ENSG00000267275
distal
NA
NA
19
16,435,194
C
T
false
5_prime_UTR_variant
1,101
rs140041191
0.000141
0.017788
37.231
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000127527
0
ENSG00000127527
703
0
ENSG00000127527
5_prime_UTR_variant
ENSG00000127527
101
ENSG00000267703
5,751
101
ENSG00000127527
5_prime_UTR_variant
NA
NA
19
16,584,097
A
G
false
distal
1,068
rs12462015
0.00026
0.068763
144.85
intron_variant
dELS
ENSG00000105085
3,306
ENSG00000269578
2,807
2,807
ENSG00000269578
dELS
ENSG00000105085
3,503
ENSG00000279748
2,807
2,807
ENSG00000279748
distal
NA
NA
19
16,723,626
A
C
false
distal
1,052
rs10414525
0.000071
0.42575
50.322
intron_variant
dELS_flank
ENSG00000188039
739
ENSG00000188039
739
739
ENSG00000188039
dELS_flank
ENSG00000188039
2,280
ENSG00000188039
2,127
2,127
ENSG00000188039
distal
NA
NA
19
16,733,051
G
A
false
distal
997
rs11670108
0.000082
0.30882
47.482
intron_variant
pELS_flank
ENSG00000188039
1,772
ENSG00000188039
1,772
1,772
ENSG00000188039
pELS_flank
ENSG00000188039
1,852
ENSG00000188039
1,855
1,852
ENSG00000188039
distal
NA
NA
19
16,741,104
G
A
false
distal
1,123
rs112742394
0.000459
0.046663
42.403
intron_variant
TF
ENSG00000188039
3,316
ENSG00000188039
2,811
2,811
ENSG00000188039
TF
ENSG00000188039
9,905
ENSG00000188039
9,908
9,905
ENSG00000188039
distal
NA
NA
19
16,883,632
G
A
false
distal
1,080
rs117601628
0.000146
0.017368
22.941
intergenic_variant
dELS
ENSG00000127511
3,278
ENSG00000127511
4,571
3,278
ENSG00000127511
dELS
ENSG00000127533
5,366
ENSG00000127511
6,469
5,366
ENSG00000127533
distal
NA
NA
19
16,890,392
C
T
false
missense_variant
1,018
rs2227376
0.000352
0.017457
6.506
missense_variant
missense_variant
ENSG00000127533
0
ENSG00000160111
2,561
0
ENSG00000127533
missense_variant
ENSG00000127533
1,201
ENSG00000160111
6,500
1,201
ENSG00000127533
missense_variant
NA
NA
19
16,893,238
T
C
false
missense_variant
1,026
rs1054533
0.000375
0.34276
58.293
missense_variant
missense_variant
ENSG00000160111
0
ENSG00000160111
0
0
ENSG00000160111
missense_variant
ENSG00000160111
2,976
ENSG00000160111
3,654
2,976
ENSG00000160111
missense_variant
NA
NA
19
16,896,567
G
T
false
missense_variant
1,017
rs138669969
0.001237
0.023577
26.241
missense_variant
missense_variant
ENSG00000160111
0
ENSG00000160111
0
0
ENSG00000160111
missense_variant
ENSG00000160111
351
ENSG00000160111
325
325
ENSG00000160111
missense_variant
NA
NA
19
16,945,335
G
A
false
distal
1,069
rs2290651
0.000673
0.42908
40.053
intron_variant
dELS
ENSG00000160111
213
ENSG00000160111
1,746
213
ENSG00000160111
dELS
ENSG00000160111
30,873
ENSG00000160111
25,789
25,789
ENSG00000160111
distal
NA
NA
19
17,024,394
A
C
false
distal
1,091
rs77048852
0.000078
0.009233
10.308
intron_variant
dELS
ENSG00000160111
2,156
ENSG00000160111
2,156
2,156
ENSG00000160111
dELS
ENSG00000160111
2,247
ENSG00000160111
2,420
2,247
ENSG00000160111
distal
NA
NA
19
17,035,990
C
T
false
distal
1,051
rs113326229
0.000106
0.02831
10.905
intergenic_variant
dELS_flank
ENSG00000160111
9,179
ENSG00000160111
9,174
9,174
ENSG00000160111
dELS_flank
ENSG00000160111
9,179
ENSG00000160111
9,174
9,174
ENSG00000160111
distal
NA
NA
19
17,073,910
G
A
false
5_prime_UTR_variant
1,099
rs149146499
0.000089
0.021954
30.496
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000131351
0
ENSG00000131351
574
0
ENSG00000131351
5_prime_UTR_variant
ENSG00000131351
1,289
ENSG00000131351
1,511
1,289
ENSG00000131351
5_prime_UTR_variant
NA
NA
19
17,074,222
T
C
false
5_prime_UTR_variant
1,099
rs116850120
0.000089
0.021963
30.494
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000131351
0
ENSG00000131351
886
0
ENSG00000131351
5_prime_UTR_variant
ENSG00000131351
977
ENSG00000131351
1,199
977
ENSG00000131351
5_prime_UTR_variant
NA
NA
19
17,085,039
G
A
false
distal
1,051
rs116338776
0.000626
0.025878
29.841
intron_variant
dELS_flank
ENSG00000099331
9,164
ENSG00000131351
9,594
9,164
ENSG00000099331
dELS_flank
ENSG00000099331
9,252
ENSG00000131351
9,594
9,252
ENSG00000099331
distal
NA
NA
19
17,109,531
G
A
false
distal
1,078
rs8108205
0.007957
0.19601
93.325
intron_variant
dELS
ENSG00000099331
6,973
ENSG00000099331
5,741
5,741
ENSG00000099331
dELS
ENSG00000099331
7,812
ENSG00000099331
7,348
7,348
ENSG00000099331
distal
NA
NA
19
17,139,411
C
T
false
distal
1,074
rs12978448
0.000771
0.15022
74.035
intron_variant
dELS
ENSG00000099331
5,985
ENSG00000268056
13,176
5,985
ENSG00000099331
dELS
ENSG00000099331
32,963
ENSG00000268056
28,635
28,635
ENSG00000268056
distal
NA
NA
19
17,141,231
G
A
true
distal
1,083
rs59616136
1
HbA1c,MCHC,MCV,TBil
0.09263
31.219
intron_variant
dELS
ENSG00000099331
4,165
ENSG00000268056
11,356
4,165
ENSG00000099331
dELS
ENSG00000099331
31,143
ENSG00000268056
26,815
26,815
ENSG00000268056
distal
NA
NA
19
17,142,164
T
C
true
distal
1,045
rs61166126
0.99297
TBil
0.31084
53.86
intron_variant
dELS_flank
ENSG00000099331
3,232
ENSG00000268056
10,423
3,232
ENSG00000099331
dELS_flank
ENSG00000099331
30,210
ENSG00000268056
25,882
25,882
ENSG00000268056
distal
NA
NA
19
17,170,324
A
G
false
distal
1,091
rs77789582
0.000083
0.007746
21.478
intron_variant
dELS
ENSG00000099331
2,011
ENSG00000268056
2,272
2,011
ENSG00000099331
dELS
ENSG00000099331
2,050
ENSG00000268056
2,272
2,050
ENSG00000099331
distal
NA
NA
19
17,199,702
T
C
false
distal
1,052
rs28502345
0.002976
0.42096
107.89
intron_variant
dELS_flank
ENSG00000099331
590
ENSG00000099331
590
590
ENSG00000099331
dELS_flank
ENSG00000099331
6,986
ENSG00000099331
1,583
1,583
ENSG00000099331
distal
NA
NA
19
17,211,991
T
C
false
missense_variant
1,032
rs117297085
0.000366
0.034267
68.673
missense_variant
missense_variant
ENSG00000099331
0
ENSG00000099331
50
0
ENSG00000099331
missense_variant
ENSG00000053501
3,365
ENSG00000099331
1,399
1,399
ENSG00000099331
missense_variant
NA
NA
19
17,214,104
C
T
false
distal
998
rs4808600
0.007295
0.30666
99.172
intron_variant
pELS_flank
ENSG00000099331
355
ENSG00000053501
1,241
355
ENSG00000099331
pELS_flank
ENSG00000053501
1,252
ENSG00000053501
1,241
1,241
ENSG00000053501
distal
NA
NA
19
17,235,632
A
T
true
synonymous_variant
1,060
rs146497684
0.998785
SHBG
0.030112
20.401
synonymous_variant
synonymous_variant
ENSG00000160113
0
ENSG00000099330
6,413
0
ENSG00000160113
synonymous_variant
ENSG00000099330
7,375
ENSG00000099330
8,473
7,375
ENSG00000099330
synonymous_variant
NA
NA
19
17,236,045
G
C
true
missense_variant
1,012
rs202200760
0.992965
Testosterone_M
0.038828
23.952
missense_variant
missense_variant
ENSG00000160113
0
ENSG00000099330
6,826
0
ENSG00000160113
missense_variant
ENSG00000099330
7,788
ENSG00000099330
8,886
7,788
ENSG00000099330
missense_variant
NA
NA
19
17,277,797
A
T
false
tss_proximal
1,097
rs8113422
0.000367
0.08179
56.035
intron_variant
intron_variant
ENSG00000105393
887
ENSG00000105393
273
273
ENSG00000105393
tss_proximal
ENSG00000160117
3,847
ENSG00000105393
982
982
ENSG00000105393
tss_proximal
tss_prox:b2
tss_prox:b1
19
17,281,820
G
A
false
missense_variant
1,009
rs35586766
0.002201
0.094927
64.691
missense_variant
missense_variant
ENSG00000160117
0
ENSG00000160117
0
0
ENSG00000160117
missense_variant
ENSG00000160117
56
ENSG00000160117
56
56
ENSG00000160117
missense_variant
NA
NA
19
17,309,145
G
T
false
tss_proximal
993
rs145655463
0.00064
0.008141
10.362
intron_variant
PLS_flank
ENSG00000130311
417
ENSG00000130311
372
372
ENSG00000130311
tss_proximal
ENSG00000130311
417
ENSG00000130311
372
372
ENSG00000130311
tss_proximal
tss_prox:b1
tss_prox:b1
19
17,365,344
T
G
true
missense_variant
1,013
rs142500391
0.92473
Mono
0.003776
7.6094
missense_variant
missense_variant
ENSG00000130300
0
ENSG00000269350
2,590
0
ENSG00000130300
missense_variant
ENSG00000130300
806
ENSG00000269350
4,411
806
ENSG00000130300
missense_variant
NA
NA
19
17,400,098
C
T
false
distal
1,053
rs148062317
0.000843
0.021628
59.32
intergenic_variant
dELS_flank
ENSG00000130303
2,840
ENSG00000130303
2,840
2,840
ENSG00000130303
dELS_flank
ENSG00000130303
5,531
ENSG00000130303
4,438
4,438
ENSG00000130303
distal
NA
NA
19
17,460,680
C
T
false
missense_variant
1,019
rs150719211
0.000123
0.003862
8.7104
missense_variant
missense_variant
ENSG00000269035
0
ENSG00000269736
7,710
0
ENSG00000269035
missense_variant
ENSG00000269035
123
ENSG00000269736
7,710
123
ENSG00000269035
missense_variant
NA
NA
19
17,460,824
C
T
false
missense_variant
1,019
rs140610859
0.000063
0.003214
5.7288
missense_variant
missense_variant
ENSG00000171773
0
ENSG00000269736
7,854
0
ENSG00000171773
missense_variant
ENSG00000269035
19
ENSG00000269736
7,854
19
ENSG00000269035
missense_variant
NA
NA
19
17,475,076
G
A
false
distal
1,077
rs62126778
0.000052
0.19112
50.257
intron_variant
dELS
ENSG00000130304
4,368
ENSG00000130304
4,368
4,368
ENSG00000130304
dELS
ENSG00000130304
4,551
ENSG00000130304
4,537
4,537
ENSG00000130304
distal
NA
NA
19
17,539,420
C
A
false
missense_variant
1,016
rs114207587
0.000118
0.053331
38.636
missense_variant
missense_variant
ENSG00000167483
0
ENSG00000167483
0
0
ENSG00000167483
missense_variant
ENSG00000167483
12,115
ENSG00000167483
556
556
ENSG00000167483
missense_variant
NA
NA
19
17,558,480
G
C
false
distal
1,052
rs62119890
0.000429
0.42329
42.313
intron_variant
dELS_flank
ENSG00000130309
830
ENSG00000130309
830
830
ENSG00000130309
dELS_flank
ENSG00000130309
2,830
ENSG00000130309
1,918
1,918
ENSG00000130309
distal
NA
NA
19
17,725,022
T
G
false
splicing
1,132
rs3761055
0.001718
0.21684
84.619
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000130479
26
ENSG00000130479
7
7
ENSG00000130479
splice_polypyrimidine_tract_variant
ENSG00000130479
2,415
ENSG00000130479
3,125
2,415
ENSG00000130479
splicing
NA
splicing:b1
19
17,756,803
T
C
false
distal
1,079
rs12977828
0.000274
0.29291
73.414
intron_variant
dELS
ENSG00000130475
1,611
ENSG00000130475
1,180
1,180
ENSG00000130475
dELS
ENSG00000130475
1,704
ENSG00000130475
2,590
1,704
ENSG00000130475
distal
NA
NA
19
17,783,177
T
C
false
splicing
1,119
rs186812006
0.00004
0.000094
10.026
splice_donor_5th_base_variant
splice_donor_5th_base_variant
ENSG00000130475
4
ENSG00000130475
4
4
ENSG00000130475
splice_donor_5th_base_variant
ENSG00000179913
11,650
ENSG00000130475
2,945
2,945
ENSG00000130475
splicing
NA
splicing:b0
19
17,830,485
T
C
false
tss_proximal
1,094
rs2302603
0.000364
0.3153
17.363
intron_variant
dELS_flank
ENSG00000105639
17
ENSG00000105639
17
17
ENSG00000105639
tss_proximal
ENSG00000248099
8,910
ENSG00000105639
345
345
ENSG00000105639
tss_proximal
tss_prox:b2
tss_prox:b0
19
17,840,943
G
C
false
distal
1,039
rs3212737
0.000458
0.074639
21.93
intron_variant
dELS_flank
ENSG00000105639
445
ENSG00000105639
445
445
ENSG00000105639
dELS_flank
ENSG00000105639
3,503
ENSG00000105639
1,135
1,135
ENSG00000105639
distal
NA
NA
19
17,843,141
G
C
false
missense_variant
1,030
rs55778349
0.000141
0.008472
5.5768
missense_variant
missense_variant
ENSG00000105639
0
ENSG00000105639
0
0
ENSG00000105639
missense_variant
ENSG00000105639
1,305
ENSG00000105639
615
615
ENSG00000105639
missense_variant
NA
NA
19
18,005,335
A
G
true
distal
997
rs35928002
1
DVT,Height,Mono
0.30552
41.633
intron_variant
pELS_flank
ENSG00000105643
1,846
ENSG00000105643
1,904
1,846
ENSG00000105643
pELS_flank
ENSG00000105643
1,846
ENSG00000105643
1,904
1,846
ENSG00000105643
distal
NA
NA
19
18,013,637
C
T
false
3_prime_UTR_variant
1,109
rs73512454
0.000323
0.043483
63.441
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000105643
0
ENSG00000105643
0
0
ENSG00000105643
3_prime_UTR_variant
ENSG00000105643
5,466
ENSG00000279172
3,755
3,755
ENSG00000279172
3_prime_UTR_variant
NA
NA
19
18,130,707
G
A
false
splicing
1,119
rs368438787
0.000091
0.000055
1.3328
splice_donor_5th_base_variant
splice_donor_5th_base_variant
ENSG00000099308
4
ENSG00000099308
1,347
4
ENSG00000099308
splice_donor_5th_base_variant
ENSG00000099308
12,865
ENSG00000099308
6,647
6,647
ENSG00000099308
splicing
NA
splicing:b0
19
18,169,286
G
A
false
missense_variant
1,007
rs149081991
0.000319
0.045136
58.628
missense_variant
missense_variant
ENSG00000105647
0
ENSG00000105647
0
0
ENSG00000105647
missense_variant
ENSG00000216490
3,875
ENSG00000105647
787
787
ENSG00000105647
missense_variant
NA
NA
19
18,190,893
T
G
false
distal
997
rs11086095
0.000569
0.30627
110.96
intergenic_variant
pELS_flank
ENSG00000254858
2,324
ENSG00000254858
2,324
2,324
ENSG00000254858
pELS_flank
ENSG00000254858
2,324
ENSG00000254858
2,324
2,324
ENSG00000254858
distal
NA
NA
19
18,218,430
T
C
false
synonymous_variant
1,057
rs1042050
0.00021
0.38281
134.32
synonymous_variant
synonymous_variant
ENSG00000105650
0
ENSG00000105650
0
0
ENSG00000105650
synonymous_variant
ENSG00000105650
2,730
ENSG00000105650
2,691
2,691
ENSG00000105650
synonymous_variant
NA
NA
19
18,258,000
G
T
false
missense_variant
1,003
rs999813
0.000335
0.4475
142
missense_variant
missense_variant
ENSG00000130518
0
ENSG00000130518
0
0
ENSG00000130518
missense_variant
ENSG00000284797
2,580
ENSG00000284797
2,648
2,580
ENSG00000284797
missense_variant
NA
NA
19
18,393,002
A
G
false
distal
1,090
rs73011458
0.001476
0.24093
51.246
intron_variant
dELS
ENSG00000175489
876
ENSG00000130513
4,517
876
ENSG00000175489
dELS
ENSG00000175489
4,608
ENSG00000130513
6,081
4,608
ENSG00000175489
distal
NA
NA
19
18,436,454
C
T
false
missense_variant
1,008
rs61743938
0.000055
0.007828
100.17
missense_variant
missense_variant
ENSG00000105655
0
ENSG00000105655
0
0
ENSG00000105655
missense_variant
ENSG00000105655
551
ENSG00000105655
161
161
ENSG00000105655
missense_variant
NA
NA
19
18,589,773
T
C
false
tss_proximal
1,103
rs12981193
0.001696
0.27543
106.06
intron_variant
pELS_flank
ENSG00000006015
89
ENSG00000006015
89
89
ENSG00000006015
tss_proximal
ENSG00000006015
170
ENSG00000006015
98
98
ENSG00000006015
tss_proximal
tss_prox:b1
tss_prox:b0
19
18,590,890
G
A
false
missense_variant
1,002
rs34613961
0.000046
0.006389
14.104
missense_variant
missense_variant
ENSG00000006015
0
ENSG00000006015
0
0
ENSG00000006015
missense_variant
ENSG00000006015
1,287
ENSG00000006015
1,017
1,017
ENSG00000006015
missense_variant
NA
NA
19
18,592,693
T
C
false
distal
1,052
rs6417264
0.00067
0.41758
127.72
intron_variant
dELS_flank
ENSG00000006015
355
ENSG00000006015
356
355
ENSG00000006015
dELS_flank
ENSG00000006015
3,090
ENSG00000006016
1,440
1,440
ENSG00000006016
distal
NA
NA
19
18,667,635
C
G
false
missense_variant
1,037
rs10421503
0.001155
0.37912
117.58
missense_variant
missense_variant
ENSG00000167487
0
ENSG00000167487
28
0
ENSG00000167487
missense_variant
ENSG00000105662
16,042
ENSG00000167487
22,996
16,042
ENSG00000105662
missense_variant
NA
NA
19
18,669,959
T
C
false
3_prime_UTR_variant
1,112
rs3795026
0.000146
0.31594
115.23
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167487
0
ENSG00000167487
1,966
0
ENSG00000167487
3_prime_UTR_variant
ENSG00000105662
13,718
ENSG00000167487
25,320
13,718
ENSG00000105662
3_prime_UTR_variant
NA
NA
19
18,671,103
T
C
false
3_prime_UTR_variant
1,112
rs1473115
0.000135
0.3196
125.55
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167487
0
ENSG00000167487
3,110
0
ENSG00000167487
3_prime_UTR_variant
ENSG00000105662
12,574
ENSG00000167487
26,464
12,574
ENSG00000105662
3_prime_UTR_variant
NA
NA
19
18,671,567
A
G
false
3_prime_UTR_variant
1,110
rs876982
0.001445
0.37987
117.26
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167487
0
ENSG00000167487
3,574
0
ENSG00000167487
3_prime_UTR_variant
ENSG00000105662
12,110
ENSG00000167487
26,928
12,110
ENSG00000105662
3_prime_UTR_variant
NA
NA
19
18,672,580
C
T
false
distal
1,075
rs11670437
0.00137
0.13381
104.12
downstream_gene_variant
dELS
ENSG00000167487
858
ENSG00000167487
4,587
858
ENSG00000167487
dELS
ENSG00000105662
11,097
ENSG00000167487
27,941
11,097
ENSG00000105662
distal
NA
NA
19
18,741,824
G
A
false
distal
1,117
rs73923157
0.000692
0.010361
22.437
intron_variant
pELS
ENSG00000105662
1,085
ENSG00000105664
44,293
1,085
ENSG00000105662
pELS
ENSG00000105662
1,085
ENSG00000105664
45,210
1,085
ENSG00000105662
distal
NA
NA
19
18,744,253
C
T
false
distal
1,117
rs148153617
0.00042
0.007146
16.062
intron_variant
pELS
ENSG00000105662
97
ENSG00000105664
41,864
97
ENSG00000105662
pELS
ENSG00000105662
1,342
ENSG00000105664
42,781
1,342
ENSG00000105662
distal
NA
NA
19
18,744,592
T
C
false
distal
1,117
rs77534803
0.000449
0.025828
61.678
intron_variant
pELS
ENSG00000105662
436
ENSG00000105664
41,525
436
ENSG00000105662
pELS
ENSG00000105662
1,681
ENSG00000105664
42,442
1,681
ENSG00000105662
distal
NA
NA
19
18,807,571
C
T
false
distal
1,073
rs7245487
0.000198
0.008699
22.61
intergenic_variant
dELS
ENSG00000105664
16,265
ENSG00000105664
20,535
16,265
ENSG00000105664
dELS
ENSG00000105664
16,265
ENSG00000105664
20,535
16,265
ENSG00000105664
distal
NA
NA
19
18,862,526
C
T
false
tss_proximal
1,095
rs118065482
0.000053
0.008219
16.16
intron_variant
dELS_flank
ENSG00000005007
373
ENSG00000005007
373
373
ENSG00000005007
tss_proximal
ENSG00000223802
21,706
ENSG00000005007
406
406
ENSG00000005007
tss_proximal
tss_prox:b2
tss_prox:b1
19
18,900,104
G
C
false
tss_proximal
1,097
rs78547683
0.000251
0.079053
31.925
intron_variant
CA-H3K4me3
ENSG00000105669
156
ENSG00000105669
97
97
ENSG00000105669
tss_proximal
ENSG00000223802
3,376
ENSG00000105669
166
166
ENSG00000105669
tss_proximal
tss_prox:b2
tss_prox:b1
19
18,919,802
G
A
false
missense_variant
1,008
rs139869066
0.000059
0.008189
7.3053
missense_variant
missense_variant
ENSG00000105671
0
ENSG00000105671
0
0
ENSG00000105671
missense_variant
ENSG00000105671
86
ENSG00000105671
63
63
ENSG00000105671
missense_variant
NA
NA
19
18,938,389
G
A
false
synonymous_variant
1,058
rs1064351
0.002445
0.4294
45.643
synonymous_variant
synonymous_variant
ENSG00000051128
0
ENSG00000051128
0
0
ENSG00000051128
synonymous_variant
ENSG00000051128
592
ENSG00000051128
637
592
ENSG00000051128
synonymous_variant
NA
NA
19
19,057,419
C
A
false
missense_variant
1,018
rs36039745
0.000049
0.014868
40.565
missense_variant
missense_variant
ENSG00000105676
0
ENSG00000105676
2,094
0
ENSG00000105676
missense_variant
ENSG00000105676
1,520
ENSG00000181035
6,598
1,520
ENSG00000105676
missense_variant
NA
NA
19
19,069,401
G
A
false
distal
1,080
rs143694751
0.000048
0.014696
35.351
intron_variant
dELS
ENSG00000181035
5,285
ENSG00000181035
5,354
5,285
ENSG00000181035
dELS
ENSG00000181035
5,406
ENSG00000181035
5,382
5,382
ENSG00000181035
distal
NA
NA
19
19,110,898
G
A
false
3_prime_UTR_variant
1,105
rs188474907
0.000109
0.001051
5.565
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000181035
0
ENSG00000181035
251
0
ENSG00000181035
3_prime_UTR_variant
ENSG00000064545
21,502
ENSG00000181035
5,034
5,034
ENSG00000181035
3_prime_UTR_variant
NA
NA
19
19,111,049
C
T
false
3_prime_UTR_variant
1,105
rs551334349
0.0001
0.001836
7.7363
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000181035
0
ENSG00000181035
402
0
ENSG00000181035
3_prime_UTR_variant
ENSG00000064545
21,351
ENSG00000181035
5,185
5,185
ENSG00000181035
3_prime_UTR_variant
NA
NA
19
19,111,315
G
A
false
3_prime_UTR_variant
1,105
rs116516273
0
0.000047
28.23
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000181035
0
ENSG00000181035
668
0
ENSG00000181035
3_prime_UTR_variant
ENSG00000064545
21,085
ENSG00000181035
5,451
5,451
ENSG00000181035
3_prime_UTR_variant
NA
NA
19
19,119,673
T
C
false
3_prime_UTR_variant
1,114
rs11729
0.000423
0.16571
127.76
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000064545
0
ENSG00000064545
0
0
ENSG00000064545
3_prime_UTR_variant
ENSG00000064545
12,727
ENSG00000064545
1,301
1,301
ENSG00000064545
3_prime_UTR_variant
NA
NA
19
19,120,007
T
C
false
missense_variant
1,016
rs45467802
0.00029
0.046284
59.854
missense_variant
missense_variant
ENSG00000064545
0
ENSG00000064545
0
0
ENSG00000064545
missense_variant
ENSG00000064545
12,393
ENSG00000064545
967
967
ENSG00000064545
missense_variant
NA
NA
19
19,140,610
T
C
false
distal
1,091
rs116886985
0.001375
0.009278
35.445
intergenic_variant
dELS
ENSG00000064545
2,096
ENSG00000064545
2,116
2,096
ENSG00000064545
dELS
ENSG00000064545
2,096
ENSG00000064545
2,116
2,096
ENSG00000064545
distal
NA
NA
19
19,140,787
C
T
false
distal
1,091
rs145045401
0.000142
0.007401
26.783
intergenic_variant
dELS
ENSG00000064545
2,273
ENSG00000064545
2,293
2,273
ENSG00000064545
dELS
ENSG00000064545
2,273
ENSG00000064545
2,293
2,273
ENSG00000064545
distal
NA
NA
19
19,160,689
C
G
true
distal
1,084
rs1005980
0.998415
NAP,TP
0.46169
102.91
intron_variant
dELS
ENSG00000213999
3,546
ENSG00000064489
3,405
3,405
ENSG00000064489
dELS
ENSG00000213999
9,558
ENSG00000254901
19,911
9,558
ENSG00000213999
distal
NA
NA
19
19,238,271
G
A
false
missense_variant
1,022
rs564014772
0.000192
0.0008
6.803
missense_variant
missense_variant
ENSG00000130287
0
ENSG00000130287
0
0
ENSG00000130287
missense_variant
ENSG00000130287
11
ENSG00000130287
120
11
ENSG00000130287
missense_variant
NA
NA
19
19,268,740
C
T
true
missense_variant
1,014
rs58542926
0.999565
LDLC,TC,TG
0.075441
152.11
missense_variant
missense_variant
ENSG00000213996
0
ENSG00000213996
0
0
ENSG00000213996
missense_variant
ENSG00000213996
4,560
ENSG00000213996
2,023
2,023
ENSG00000213996
missense_variant
NA
NA
19
19,412,115
C
A
false
distal
1,043
rs146193739
0.001093
0.008627
14.519
intron_variant
dELS_flank
ENSG00000167491
6,095
ENSG00000167491
6,095
6,095
ENSG00000167491
dELS_flank
ENSG00000167491
6,439
ENSG00000167491
6,276
6,276
ENSG00000167491
distal
NA
NA
19
19,422,313
C
G
false
distal
1,089
rs558786991
0
0.000635
5.5247
intron_variant
dELS
ENSG00000167491
5,202
ENSG00000207821
12,749
5,202
ENSG00000167491
dELS
ENSG00000167491
5,202
ENSG00000207821
12,749
5,202
ENSG00000167491
distal
NA
NA
19
19,452,954
C
G
false
distal
1,089
rs35548563
0.000195
0.001466
33.555
intron_variant
dELS
ENSG00000167491
4,157
ENSG00000167491
12,385
4,157
ENSG00000167491
dELS
ENSG00000167491
4,157
ENSG00000167491
12,385
4,157
ENSG00000167491
distal
NA
NA
19
19,453,121
A
T
false
distal
1,089
rs149243705
0
0.000684
208.91
intron_variant
dELS
ENSG00000167491
3,990
ENSG00000167491
12,218
3,990
ENSG00000167491
dELS
ENSG00000167491
3,990
ENSG00000167491
12,218
3,990
ENSG00000167491
distal
NA
NA
19
19,535,632
C
G
false
missense_variant
1,029
rs146733860
0.001167
0.009202
41.264
missense_variant
missense_variant
ENSG00000250067
0
ENSG00000250067
0
0
ENSG00000250067
missense_variant
ENSG00000160161
2,615
ENSG00000160161
5,026
2,615
ENSG00000160161
missense_variant
NA
NA
19
19,634,670
C
T
false
missense_variant
1,006
rs12003
0.000157
0.037981
44.748
missense_variant
missense_variant
ENSG00000089639
0
ENSG00000089639
121
0
ENSG00000089639
missense_variant
ENSG00000089639
3,516
ENSG00000089639
869
869
ENSG00000089639
missense_variant
NA
NA
19
19,654,690
C
T
true
missense_variant
1,015
rs45522544
1
Plt
0.01402
46.371
missense_variant
missense_variant
ENSG00000105726
0
ENSG00000105726
0
0
ENSG00000105726
missense_variant
ENSG00000105726
7,425
ENSG00000105726
127
127
ENSG00000105726
missense_variant
NA
NA
19
19,711,016
T
C
false
3_prime_UTR_variant
1,111
rs3207975
0.00015
0.41958
112.69
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000105708
0
ENSG00000270402
550
0
ENSG00000105708
3_prime_UTR_variant
ENSG00000105708
22,095
ENSG00000270402
2,050
2,050
ENSG00000270402
3_prime_UTR_variant
NA
NA