rs7127747

Homo sapiens
G>A
GUCY2EP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0367 (10973/29870,GnomAD)
A=0412 (12001/29118,TOPMED)
A=0412 (2061/5008,1000G)
A=0327 (1261/3854,ALSPAC)
A=0329 (1219/3708,TWINSUK)
chr11:76701619 (GRCh38.p7) (11q13.5)
AD
GWASdb2
1   publication(s)
See rs on genome
78 Enhancers around
87 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.76701619G>A
GRCh37.p13 chr 11NC_000011.9:g.76412663G>A

Gene: GUCY2EP, guanylate cyclase 2E, pseudogene(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GUCY2EP transcriptNR_024042.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.480A=0.520
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.687A=0.313
1000GenomesEuropeSub1006G=0.660A=0.340
1000GenomesGlobalStudy-wide5008G=0.588A=0.412
1000GenomesSouth AsianSub978G=0.530A=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.673A=0.327
The Genome Aggregation DatabaseAfricanSub8686G=0.517A=0.483
The Genome Aggregation DatabaseAmericanSub838G=0.600A=0.400
The Genome Aggregation DatabaseEast AsianSub1612G=0.672A=0.328
The Genome Aggregation DatabaseEuropeSub18432G=0.686A=0.313
The Genome Aggregation DatabaseGlobalStudy-wide29870G=0.632A=0.367
The Genome Aggregation DatabaseOtherSub302G=0.560A=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.587A=0.412
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.671A=0.329
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs71277470.000523alcohol dependence24277619

eQTL of rs7127747 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 rs7127747 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 )
chr117637707376377123E067-35540
chr117637713876377192E067-35471
chr117643275276433306E06720089
chr117643253676432576E06819873
chr117643333776433683E06920674
chr117644588376446037E06933220
chr117644605776446479E06933394
chr117636420076366372E070-46291
chr117636820776368328E070-44335
chr117645897776459035E07046314
chr117645910476459263E07046441
chr117645931376459465E07046650
chr117645947276459824E07046809
chr117636730476368171E071-44492
chr117636820776368328E071-44335
chr117637663976376758E071-35905
chr117637683976376895E071-35768
chr117637693676377009E071-35654
chr117637707376377123E071-35540
chr117637713876377192E071-35471
chr117637723476377317E071-35346
chr117637743876377966E071-34697
chr117643275276433306E07120089
chr117636652376366671E073-45992
chr117636668176366925E073-45738
chr117636694976367005E073-45658
chr117637663976376758E073-35905
chr117637683976376895E073-35768
chr117637693676377009E073-35654
chr117643275276433306E07320089
chr117643333776433683E07320674
chr117644588376446037E07333220
chr117644605776446479E07333394
chr117644650176447016E07333838
chr117636420076366372E081-46291
chr117642119776421377E0818534
chr117642143776421513E0818774
chr117643275276433306E08120089
chr117644550676445859E08132843
chr117644588376446037E08133220
chr117644605776446479E08133394
chr117644650176447016E08133838
chr117644702076447677E08134357
chr117644770076447986E08135037
chr117644800776448071E08135344
chr117644816576448324E08135502
chr117644836776448481E08135704
chr117644858276448669E08135919
chr117644874476449011E08136081
chr117644905176449101E08136388
chr117644910276449280E08136439
chr117645811876458249E08145455
chr117645828276458429E08145619
chr117645847176458680E08145808
chr117645873476458940E08146071
chr117645897776459035E08146314
chr117645910476459263E08146441
chr117645931376459465E08146650
chr117645947276459824E08146809
chr117645991276460012E08147249
chr117646002876460489E08147365
chr117646051076460567E08147847
chr117646103376461254E08148370
chr117646132576461747E08148662
chr117646186376461962E08149200
chr117646211176462191E08149448
chr117636420076366372E082-46291
chr117644588376446037E08233220
chr117644605776446479E08233394
chr117644650176447016E08233838
chr117644702076447677E08234357
chr117644770076447986E08235037
chr117645873476458940E08246071
chr117645897776459035E08246314
chr117645910476459263E08246441
chr117646132576461747E08248662
chr117646186376461962E08249200
chr117646211176462191E08249448








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr117637820176378267E067-34396
chr117637830676378369E067-34294
chr117637839476378535E067-34128
chr117637853876378598E067-34065
chr117637861976378783E067-33880
chr117637905176379190E067-33473
chr117637928276379332E067-33331
chr117637934076379467E067-33196
chr117637951576379666E067-32997
chr117637970876379801E067-32862
chr117637995576380093E067-32570
chr117638012776380408E067-32255
chr117638045476380504E067-32159
chr117638055676383035E067-29628
chr117637820176378267E068-34396
chr117637830676378369E068-34294
chr117637839476378535E068-34128
chr117637853876378598E068-34065
chr117637861976378783E068-33880
chr117637905176379190E068-33473
chr117637928276379332E068-33331
chr117637934076379467E068-33196
chr117637951576379666E068-32997
chr117637970876379801E068-32862
chr117637995576380093E068-32570
chr117638012776380408E068-32255
chr117638045476380504E068-32159
chr117638055676383035E068-29628
chr117637905176379190E069-33473
chr117637928276379332E069-33331
chr117637934076379467E069-33196
chr117637951576379666E069-32997
chr117638055676383035E069-29628
chr117637820176378267E071-34396
chr117637830676378369E071-34294
chr117637839476378535E071-34128
chr117637853876378598E071-34065
chr117637861976378783E071-33880
chr117637905176379190E071-33473
chr117637928276379332E071-33331
chr117637934076379467E071-33196
chr117637951576379666E071-32997
chr117637970876379801E071-32862
chr117637995576380093E071-32570
chr117638012776380408E071-32255
chr117638045476380504E071-32159
chr117638055676383035E071-29628
chr117637820176378267E072-34396
chr117637830676378369E072-34294
chr117637839476378535E072-34128
chr117637853876378598E072-34065
chr117637861976378783E072-33880
chr117637905176379190E072-33473
chr117637928276379332E072-33331
chr117637934076379467E072-33196
chr117637951576379666E072-32997
chr117637970876379801E072-32862
chr117637995576380093E072-32570
chr117638012776380408E072-32255
chr117638045476380504E072-32159
chr117638055676383035E072-29628
chr117637839476378535E073-34128
chr117637853876378598E073-34065
chr117637861976378783E073-33880
chr117637905176379190E073-33473
chr117637928276379332E073-33331
chr117637934076379467E073-33196
chr117637951576379666E073-32997
chr117637970876379801E073-32862
chr117637995576380093E073-32570
chr117638012776380408E073-32255
chr117638045476380504E073-32159
chr117638055676383035E073-29628
chr117637820176378267E074-34396
chr117637830676378369E074-34294
chr117637839476378535E074-34128
chr117637853876378598E074-34065
chr117637861976378783E074-33880
chr117637905176379190E074-33473
chr117637928276379332E074-33331
chr117637934076379467E074-33196
chr117637951576379666E074-32997
chr117637970876379801E074-32862
chr117637995576380093E074-32570
chr117638012776380408E074-32255
chr117638045476380504E074-32159
chr117638055676383035E074-29628