rs2014530

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0380 (11368/29878,GnomAD)
T=0392 (11427/29114,TOPMED)
T=0447 (2241/5008,1000G)
T=0377 (1454/3854,ALSPAC)
T=0360 (1334/3708,TWINSUK)
chr22:44361191 (GRCh38.p7) (22q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
188 Enhancers around
22 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.44361191C>T
GRCh37.p13 chr 22NC_000022.10:g.44757071C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.669T=0.331
1000GenomesAmericanSub694C=0.390T=0.610
1000GenomesEast AsianSub1008C=0.464T=0.536
1000GenomesEuropeSub1006C=0.574T=0.426
1000GenomesGlobalStudy-wide5008C=0.553T=0.447
1000GenomesSouth AsianSub978C=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.623T=0.377
The Genome Aggregation DatabaseAfricanSub8694C=0.652T=0.348
The Genome Aggregation DatabaseAmericanSub836C=0.370T=0.630
The Genome Aggregation DatabaseEast AsianSub1618C=0.476T=0.524
The Genome Aggregation DatabaseEuropeSub18428C=0.630T=0.369
The Genome Aggregation DatabaseGlobalStudy-wide29878C=0.619T=0.380
The Genome Aggregation DatabaseOtherSub302C=0.470T=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29114C=0.607T=0.392
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.640T=0.360
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs20145303.92E-05alcohol dependence19581569

eQTL of rs2014530 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2014530 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr224470820444708285E067-48786
chr224477680844776858E06719737
chr224472272644722862E068-34209
chr224472272644722862E069-34209
chr224471251744713268E070-43803
chr224471339744713451E070-43620
chr224472272644722862E070-34209
chr224473614144736195E070-20876
chr224473631244736372E070-20699
chr224473649344736713E070-20358
chr224473691744736980E070-20091
chr224474071244740812E070-16259
chr224474092744741009E070-16062
chr224474758344748441E070-8630
chr224474851044748576E070-8495
chr224474858044748640E070-8431
chr224475369844754528E070-2543
chr224476346044763530E0706389
chr224477622044776748E07019149
chr224477734744777622E07020276
chr224477772044777760E07020649
chr224478324544783326E07026174
chr224472272644722862E071-34209
chr224477680844776858E07119737
chr224477689144777058E07119820
chr224477708044777276E07120009
chr224477734744777622E07120276
chr224472272644722862E072-34209
chr224472292244723002E072-34069
chr224472304644723146E072-33925
chr224472317044723261E072-33810
chr224473303944733111E072-23960
chr224474758344748441E072-8630
chr224471251744713268E073-43803
chr224471339744713451E073-43620
chr224471369144713772E073-43299
chr224471395644714042E073-43029
chr224473303944733111E073-23960
chr224473317644733860E073-23211
chr224472272644722862E074-34209
chr224475369844754528E074-2543
chr224475453844754815E074-2256
chr224475485544754945E074-2126
chr224475499344755048E074-2023
chr224471251744713268E081-43803
chr224471339744713451E081-43620
chr224471369144713772E081-43299
chr224471395644714042E081-43029
chr224471412544714454E081-42617
chr224471465444714704E081-42367
chr224471486344714913E081-42158
chr224471553844715588E081-41483
chr224472137544721431E081-35640
chr224472272644722862E081-34209
chr224472292244723002E081-34069
chr224472304644723146E081-33925
chr224472317044723261E081-33810
chr224472327544723389E081-33682
chr224472342244723522E081-33549
chr224472354544723595E081-33476
chr224472360044723689E081-33382
chr224472381144723861E081-33210
chr224472391444723966E081-33105
chr224472429644724370E081-32701
chr224472469844724814E081-32257
chr224472915044729242E081-27829
chr224472952344729577E081-27494
chr224472961744729667E081-27404
chr224472995344730126E081-26945
chr224473019144730296E081-26775
chr224473125944731309E081-25762
chr224473177644731851E081-25220
chr224473186444732331E081-24740
chr224473317644733860E081-23211
chr224473418544734235E081-22836
chr224473429444734357E081-22714
chr224473436244734524E081-22547
chr224473468944734739E081-22332
chr224473482444734874E081-22197
chr224473490544735029E081-22042
chr224473505144735120E081-21951
chr224473514244735202E081-21869
chr224473537344735468E081-21603
chr224473552544735579E081-21492
chr224473614144736195E081-20876
chr224473631244736372E081-20699
chr224473649344736713E081-20358
chr224473691744736980E081-20091
chr224473714344737255E081-19816
chr224474707644747238E081-9833
chr224474758344748441E081-8630
chr224474851044748576E081-8495
chr224474858044748640E081-8431
chr224474872344748794E081-8277
chr224474958744749637E081-7434
chr224475053244750588E081-6483
chr224475063044750686E081-6385
chr224475103844751237E081-5834
chr224475127844751347E081-5724
chr224475145844751634E081-5437
chr224475177044751864E081-5207
chr224475328844753463E081-3608
chr224475369844754528E081-2543
chr224477680844776858E08119737
chr224477689144777058E08119820
chr224477708044777276E08120009
chr224477734744777622E08120276
chr224477772044777760E08120649
chr224477802944778858E08120958
chr224478324544783326E08126174
chr224479016644790227E08133095
chr224479023844790331E08133167
chr224479039844790515E08133327
chr224479470244794997E08137631
chr224479518844795313E08138117
chr224480614044806233E08149069
chr224480640744806495E08149336
chr224480652644806835E08149455
chr224471136144711432E082-45639
chr224471152144711694E082-45377
chr224471251744713268E082-43803
chr224471339744713451E082-43620
chr224471369144713772E082-43299
chr224471395644714042E082-43029
chr224471412544714454E082-42617
chr224471465444714704E082-42367
chr224472013144720285E082-36786
chr224472039244720442E082-36629
chr224472046244720552E082-36519
chr224472137544721431E082-35640
chr224472272644722862E082-34209
chr224472292244723002E082-34069
chr224472304644723146E082-33925
chr224472317044723261E082-33810
chr224472327544723389E082-33682
chr224472342244723522E082-33549
chr224472354544723595E082-33476
chr224472360044723689E082-33382
chr224472381144723861E082-33210
chr224472391444723966E082-33105
chr224472429644724370E082-32701
chr224472469844724814E082-32257
chr224472915044729242E082-27829
chr224472952344729577E082-27494
chr224472995344730126E082-26945
chr224473303944733111E082-23960
chr224473317644733860E082-23211
chr224473614144736195E082-20876
chr224473631244736372E082-20699
chr224473649344736713E082-20358
chr224473691744736980E082-20091
chr224473714344737255E082-19816
chr224473735644737406E082-19665
chr224474000444740094E082-16977
chr224474019244740301E082-16770
chr224474047344740700E082-16371
chr224474071244740812E082-16259
chr224474292044743011E082-14060
chr224474304644743209E082-13862
chr224474324944743677E082-13394
chr224474371444743843E082-13228
chr224474758344748441E082-8630
chr224474851044748576E082-8495
chr224474858044748640E082-8431
chr224474872344748794E082-8277
chr224475053244750588E082-6483
chr224475063044750686E082-6385
chr224475103844751237E082-5834
chr224475127844751347E082-5724
chr224475145844751634E082-5437
chr224475177044751864E082-5207
chr224475204044752128E082-4943
chr224475318744753243E082-3828
chr224475328844753463E082-3608
chr224475369844754528E082-2543
chr224476488544765036E0827814
chr224476510544765166E0828034
chr224476524944765299E0828178
chr224476532144765546E0828250
chr224476558544765667E0828514
chr224477680844776858E08219737
chr224477689144777058E08219820
chr224477708044777276E08220009
chr224477734744777622E08220276
chr224477772044777760E08220649
chr224480614044806233E08249069
chr224480640744806495E08249336
chr224480652644806835E08249455










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr224472144644722633E067-34438
chr224472777744728127E067-28944
chr224472144644722633E068-34438
chr224472144644722633E069-34438
chr224472690944727049E069-30022
chr224472777744728127E069-28944
chr224472144644722633E070-34438
chr224472715444727597E070-29474
chr224472777744728127E070-28944
chr224472144644722633E071-34438
chr224472144644722633E072-34438
chr224472690944727049E072-30022
chr224472715444727597E072-29474
chr224472777744728127E072-28944
chr224472144644722633E073-34438
chr224472690944727049E073-30022
chr224472715444727597E073-29474
chr224472777744728127E073-28944
chr224472144644722633E074-34438
chr224472690944727049E082-30022
chr224472715444727597E082-29474
chr224472777744728127E082-28944