rs7638140

Homo sapiens
G>A
WWTR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0456 (13670/29926,GnomAD)
A=0436 (12698/29118,TOPMED)
A=0378 (1894/5008,1000G)
G==0442 (1703/3854,ALSPAC)
G==0428 (1587/3708,TWINSUK)
chr3:149629784 (GRCh38.p7) (3q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
183 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.149629784G>A
GRCh37.p13 chr 3NC_000003.11:g.149347571G>A

Gene: WWTR1, WW domain containing transcription regulator 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
WWTR1 transcript variant 2NM_001168278.1:c.N/AIntron Variant
WWTR1 transcript variant 3NM_001168280.1:c.N/AIntron Variant
WWTR1 transcript variant 1NM_015472.4:c.N/AIntron Variant
WWTR1 transcript variant X1XM_017006121.1:c.N/AIntron Variant
WWTR1 transcript variant X1XM_017006122.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.774A=0.226
1000GenomesAmericanSub694G=0.660A=0.340
1000GenomesEast AsianSub1008G=0.688A=0.312
1000GenomesEuropeSub1006G=0.424A=0.576
1000GenomesGlobalStudy-wide5008G=0.622A=0.378
1000GenomesSouth AsianSub978G=0.520A=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.442A=0.558
The Genome Aggregation DatabaseAfricanSub8702G=0.730A=0.270
The Genome Aggregation DatabaseAmericanSub838G=0.700A=0.300
The Genome Aggregation DatabaseEast AsianSub1620G=0.711A=0.289
The Genome Aggregation DatabaseEuropeSub18464G=0.437A=0.562
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.543A=0.456
The Genome Aggregation DatabaseOtherSub302G=0.290A=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.563A=0.436
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.428A=0.572
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs76381400.0003alcohol dependence(early age of onset)20201924
rs76381400.00046alcohol dependence20201924

eQTL of rs7638140 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:149347571COMMD2ENSG00000114744.4G>A2.6879e-5-122715Cerebellar_Hemisphere

meQTL of rs7638140 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 )
chr3149298848149298917E067-48654
chr3149304761149304956E067-42615
chr3149308522149308779E067-38792
chr3149327988149328641E067-18930
chr3149335966149336209E067-11362
chr3149348580149349007E0671009
chr3149355456149355618E0677885
chr3149355674149355744E0678103
chr3149355900149356028E0678329
chr3149359059149359262E06711488
chr3149359298149359436E06711727
chr3149298625149298796E068-48775
chr3149298848149298917E068-48654
chr3149299011149300464E068-47107
chr3149301475149301622E068-45949
chr3149301660149301744E068-45827
chr3149301816149301977E068-45594
chr3149302130149302295E068-45276
chr3149308522149308779E068-38792
chr3149309002149309130E068-38441
chr3149310425149311137E068-36434
chr3149311212149311525E068-36046
chr3149311682149311773E068-35798
chr3149319629149319692E068-27879
chr3149319995149320047E068-27524
chr3149320179149320366E068-27205
chr3149320699149320775E068-26796
chr3149320919149321192E068-26379
chr3149321301149321599E068-25972
chr3149321616149321738E068-25833
chr3149322018149322188E068-25383
chr3149322217149322794E068-24777
chr3149327401149327760E068-19811
chr3149327808149327920E068-19651
chr3149327988149328641E068-18930
chr3149328967149329083E068-18488
chr3149329116149329172E068-18399
chr3149330422149330466E068-17105
chr3149330921149331104E068-16467
chr3149335056149335177E068-12394
chr3149335966149336209E068-11362
chr3149348440149348494E068869
chr3149348580149349007E0681009
chr3149352010149352163E0684439
chr3149352487149352670E0684916
chr3149352706149352750E0685135
chr3149355456149355618E0687885
chr3149355674149355744E0688103
chr3149355900149356028E0688329
chr3149359059149359262E06811488
chr3149359298149359436E06811727
chr3149359601149359704E06812030
chr3149360894149360994E06813323
chr3149361506149361610E06813935
chr3149361904149361996E06814333
chr3149365790149365908E06818219
chr3149365976149366098E06818405
chr3149301816149301977E069-45594
chr3149302130149302295E069-45276
chr3149308522149308779E069-38792
chr3149327401149327760E069-19811
chr3149327808149327920E069-19651
chr3149327988149328641E069-18930
chr3149328967149329083E069-18488
chr3149329116149329172E069-18399
chr3149348440149348494E069869
chr3149348580149349007E0691009
chr3149359059149359262E06911488
chr3149359298149359436E06911727
chr3149366254149366737E06918683
chr3149371165149371209E06923594
chr3149371343149371480E06923772
chr3149371518149371568E06923947
chr3149371641149371731E06924070
chr3149310425149311137E070-36434
chr3149311212149311525E070-36046
chr3149311682149311773E070-35798
chr3149312316149312469E070-35102
chr3149319995149320047E070-27524
chr3149320179149320366E070-27205
chr3149320699149320775E070-26796
chr3149320919149321192E070-26379
chr3149321301149321599E070-25972
chr3149321616149321738E070-25833
chr3149322018149322188E070-25383
chr3149322217149322794E070-24777
chr3149327808149327920E070-19651
chr3149327988149328641E070-18930
chr3149355456149355618E0707885
chr3149355674149355744E0708103
chr3149355900149356028E0708329
chr3149297582149298303E071-49268
chr3149299011149300464E071-47107
chr3149301475149301622E071-45949
chr3149301660149301744E071-45827
chr3149301816149301977E071-45594
chr3149302130149302295E071-45276
chr3149302510149302562E071-45009
chr3149304761149304956E071-42615
chr3149304963149305084E071-42487
chr3149310425149311137E071-36434
chr3149311212149311525E071-36046
chr3149320919149321192E071-26379
chr3149321301149321599E071-25972
chr3149321616149321738E071-25833
chr3149322018149322188E071-25383
chr3149322217149322794E071-24777
chr3149322843149322937E071-24634
chr3149327808149327920E071-19651
chr3149327988149328641E071-18930
chr3149328967149329083E071-18488
chr3149329116149329172E071-18399
chr3149335056149335177E071-12394
chr3149335966149336209E071-11362
chr3149336535149336957E071-10614
chr3149348440149348494E071869
chr3149348580149349007E0711009
chr3149351800149351882E0714229
chr3149352010149352163E0714439
chr3149352487149352670E0714916
chr3149352706149352750E0715135
chr3149355456149355618E0717885
chr3149355674149355744E0718103
chr3149355900149356028E0718329
chr3149359059149359262E07111488
chr3149359298149359436E07111727
chr3149359601149359704E07112030
chr3149361304149361362E07113733
chr3149361904149361996E07114333
chr3149365976149366098E07118405
chr3149366254149366737E07118683
chr3149371518149371568E07123947
chr3149327988149328641E072-18930
chr3149348440149348494E072869
chr3149348580149349007E0721009
chr3149359059149359262E07211488
chr3149359298149359436E07211727
chr3149299011149300464E073-47107
chr3149320179149320366E073-27205
chr3149320699149320775E073-26796
chr3149320919149321192E073-26379
chr3149322018149322188E073-25383
chr3149322217149322794E073-24777
chr3149335966149336209E073-11362
chr3149348440149348494E073869
chr3149352487149352670E0734916
chr3149352706149352750E0735135
chr3149365976149366098E07318405
chr3149366254149366737E07318683
chr3149371165149371209E07323594
chr3149371343149371480E07323772
chr3149371518149371568E07323947
chr3149377243149377299E07329672
chr3149377526149377609E07329955
chr3149301475149301622E074-45949
chr3149301660149301744E074-45827
chr3149301816149301977E074-45594
chr3149310425149311137E074-36434
chr3149327988149328641E074-18930
chr3149328967149329083E074-18488
chr3149329116149329172E074-18399
chr3149348440149348494E074869
chr3149348580149349007E0741009
chr3149352487149352670E0744916
chr3149352706149352750E0745135
chr3149358620149359026E07411049
chr3149359059149359262E07411488
chr3149359298149359436E07411727
chr3149297582149298303E081-49268
chr3149311682149311773E081-35798
chr3149318517149318864E081-28707
chr3149327401149327760E081-19811
chr3149327808149327920E081-19651
chr3149327988149328641E081-18930
chr3149299011149300464E082-47107
chr3149310425149311137E082-36434
chr3149311212149311525E082-36046
chr3149311682149311773E082-35798
chr3149318517149318864E082-28707
chr3149327988149328641E082-18930
chr3149328967149329083E082-18488
chr3149329116149329172E082-18399
chr3149355900149356028E0828329










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3149373943149377198E06726372
chr3149373321149373699E06825750
chr3149373702149373835E06826131
chr3149373943149377198E06826372
chr3149373702149373835E06926131
chr3149373943149377198E06926372
chr3149373321149373699E07025750
chr3149373702149373835E07026131
chr3149373321149373699E07125750
chr3149373702149373835E07126131
chr3149373943149377198E07126372
chr3149373321149373699E07225750
chr3149373702149373835E07226131
chr3149373943149377198E07226372
chr3149373321149373699E07325750
chr3149373702149373835E07326131
chr3149373943149377198E07326372
chr3149373943149377198E07426372
chr3149373943149377198E08226372