rs6790596

Homo sapiens
G>A
WWTR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0380 (11395/29952,GnomAD)
G==0323 (9420/29118,TOPMED)
G==0462 (2312/5008,1000G)
G==0394 (1518/3854,ALSPAC)
G==0381 (1414/3708,TWINSUK)
chr3:149629260 (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.149629260G>A
GRCh37.p13 chr 3NC_000003.11:g.149347047G>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=0.285A=0.715
1000GenomesAmericanSub694G=0.590A=0.410
1000GenomesEast AsianSub1008G=0.661A=0.339
1000GenomesEuropeSub1006G=0.368A=0.632
1000GenomesGlobalStudy-wide5008G=0.462A=0.538
1000GenomesSouth AsianSub978G=0.500A=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.394A=0.606
The Genome Aggregation DatabaseAfricanSub8716G=0.275A=0.725
The Genome Aggregation DatabaseAmericanSub838G=0.630A=0.370
The Genome Aggregation DatabaseEast AsianSub1616G=0.683A=0.317
The Genome Aggregation DatabaseEuropeSub18480G=0.395A=0.605
The Genome Aggregation DatabaseGlobalStudy-wide29952G=0.380A=0.619
The Genome Aggregation DatabaseOtherSub302G=0.230A=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.323A=0.676
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.381A=0.619
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
rs67905960.00041alcohol dependence(early age of onset)20201924
rs67905960.00047alcohol dependence20201924

eQTL of rs6790596 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:149347047COMMD2ENSG00000114744.4G>A2.6879e-5-123239Cerebellar_Hemisphere

meQTL of rs6790596 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 )
chr3149298848149298917E067-48130
chr3149304761149304956E067-42091
chr3149308522149308779E067-38268
chr3149327988149328641E067-18406
chr3149335966149336209E067-10838
chr3149348580149349007E0671533
chr3149355456149355618E0678409
chr3149355674149355744E0678627
chr3149355900149356028E0678853
chr3149359059149359262E06712012
chr3149359298149359436E06712251
chr3149298625149298796E068-48251
chr3149298848149298917E068-48130
chr3149299011149300464E068-46583
chr3149301475149301622E068-45425
chr3149301660149301744E068-45303
chr3149301816149301977E068-45070
chr3149302130149302295E068-44752
chr3149308522149308779E068-38268
chr3149309002149309130E068-37917
chr3149310425149311137E068-35910
chr3149311212149311525E068-35522
chr3149311682149311773E068-35274
chr3149319629149319692E068-27355
chr3149319995149320047E068-27000
chr3149320179149320366E068-26681
chr3149320699149320775E068-26272
chr3149320919149321192E068-25855
chr3149321301149321599E068-25448
chr3149321616149321738E068-25309
chr3149322018149322188E068-24859
chr3149322217149322794E068-24253
chr3149327401149327760E068-19287
chr3149327808149327920E068-19127
chr3149327988149328641E068-18406
chr3149328967149329083E068-17964
chr3149329116149329172E068-17875
chr3149330422149330466E068-16581
chr3149330921149331104E068-15943
chr3149335056149335177E068-11870
chr3149335966149336209E068-10838
chr3149348440149348494E0681393
chr3149348580149349007E0681533
chr3149352010149352163E0684963
chr3149352487149352670E0685440
chr3149352706149352750E0685659
chr3149355456149355618E0688409
chr3149355674149355744E0688627
chr3149355900149356028E0688853
chr3149359059149359262E06812012
chr3149359298149359436E06812251
chr3149359601149359704E06812554
chr3149360894149360994E06813847
chr3149361506149361610E06814459
chr3149361904149361996E06814857
chr3149365790149365908E06818743
chr3149365976149366098E06818929
chr3149301816149301977E069-45070
chr3149302130149302295E069-44752
chr3149308522149308779E069-38268
chr3149327401149327760E069-19287
chr3149327808149327920E069-19127
chr3149327988149328641E069-18406
chr3149328967149329083E069-17964
chr3149329116149329172E069-17875
chr3149348440149348494E0691393
chr3149348580149349007E0691533
chr3149359059149359262E06912012
chr3149359298149359436E06912251
chr3149366254149366737E06919207
chr3149371165149371209E06924118
chr3149371343149371480E06924296
chr3149371518149371568E06924471
chr3149371641149371731E06924594
chr3149310425149311137E070-35910
chr3149311212149311525E070-35522
chr3149311682149311773E070-35274
chr3149312316149312469E070-34578
chr3149319995149320047E070-27000
chr3149320179149320366E070-26681
chr3149320699149320775E070-26272
chr3149320919149321192E070-25855
chr3149321301149321599E070-25448
chr3149321616149321738E070-25309
chr3149322018149322188E070-24859
chr3149322217149322794E070-24253
chr3149327808149327920E070-19127
chr3149327988149328641E070-18406
chr3149355456149355618E0708409
chr3149355674149355744E0708627
chr3149355900149356028E0708853
chr3149297582149298303E071-48744
chr3149299011149300464E071-46583
chr3149301475149301622E071-45425
chr3149301660149301744E071-45303
chr3149301816149301977E071-45070
chr3149302130149302295E071-44752
chr3149302510149302562E071-44485
chr3149304761149304956E071-42091
chr3149304963149305084E071-41963
chr3149310425149311137E071-35910
chr3149311212149311525E071-35522
chr3149320919149321192E071-25855
chr3149321301149321599E071-25448
chr3149321616149321738E071-25309
chr3149322018149322188E071-24859
chr3149322217149322794E071-24253
chr3149322843149322937E071-24110
chr3149327808149327920E071-19127
chr3149327988149328641E071-18406
chr3149328967149329083E071-17964
chr3149329116149329172E071-17875
chr3149335056149335177E071-11870
chr3149335966149336209E071-10838
chr3149336535149336957E071-10090
chr3149348440149348494E0711393
chr3149348580149349007E0711533
chr3149351800149351882E0714753
chr3149352010149352163E0714963
chr3149352487149352670E0715440
chr3149352706149352750E0715659
chr3149355456149355618E0718409
chr3149355674149355744E0718627
chr3149355900149356028E0718853
chr3149359059149359262E07112012
chr3149359298149359436E07112251
chr3149359601149359704E07112554
chr3149361304149361362E07114257
chr3149361904149361996E07114857
chr3149365976149366098E07118929
chr3149366254149366737E07119207
chr3149371518149371568E07124471
chr3149327988149328641E072-18406
chr3149348440149348494E0721393
chr3149348580149349007E0721533
chr3149359059149359262E07212012
chr3149359298149359436E07212251
chr3149299011149300464E073-46583
chr3149320179149320366E073-26681
chr3149320699149320775E073-26272
chr3149320919149321192E073-25855
chr3149322018149322188E073-24859
chr3149322217149322794E073-24253
chr3149335966149336209E073-10838
chr3149348440149348494E0731393
chr3149352487149352670E0735440
chr3149352706149352750E0735659
chr3149365976149366098E07318929
chr3149366254149366737E07319207
chr3149371165149371209E07324118
chr3149371343149371480E07324296
chr3149371518149371568E07324471
chr3149377243149377299E07330196
chr3149377526149377609E07330479
chr3149301475149301622E074-45425
chr3149301660149301744E074-45303
chr3149301816149301977E074-45070
chr3149310425149311137E074-35910
chr3149327988149328641E074-18406
chr3149328967149329083E074-17964
chr3149329116149329172E074-17875
chr3149348440149348494E0741393
chr3149348580149349007E0741533
chr3149352487149352670E0745440
chr3149352706149352750E0745659
chr3149358620149359026E07411573
chr3149359059149359262E07412012
chr3149359298149359436E07412251
chr3149297582149298303E081-48744
chr3149311682149311773E081-35274
chr3149318517149318864E081-28183
chr3149327401149327760E081-19287
chr3149327808149327920E081-19127
chr3149327988149328641E081-18406
chr3149299011149300464E082-46583
chr3149310425149311137E082-35910
chr3149311212149311525E082-35522
chr3149311682149311773E082-35274
chr3149318517149318864E082-28183
chr3149327988149328641E082-18406
chr3149328967149329083E082-17964
chr3149329116149329172E082-17875
chr3149355900149356028E0828853










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3149373943149377198E06726896
chr3149373321149373699E06826274
chr3149373702149373835E06826655
chr3149373943149377198E06826896
chr3149373702149373835E06926655
chr3149373943149377198E06926896
chr3149373321149373699E07026274
chr3149373702149373835E07026655
chr3149373321149373699E07126274
chr3149373702149373835E07126655
chr3149373943149377198E07126896
chr3149373321149373699E07226274
chr3149373702149373835E07226655
chr3149373943149377198E07226896
chr3149373321149373699E07326274
chr3149373702149373835E07326655
chr3149373943149377198E07326896
chr3149373943149377198E07426896
chr3149373943149377198E08226896