rs4767725

Homo sapiens
C>T
LOC105370016 : Intron Variant
LOC107984472 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0042 (1276/29962,GnomAD)
T=0045 (1328/29118,TOPMED)
T=0096 (479/5008,1000G)
T=0002 (6/3854,ALSPAC)
T=0001 (3/3708,TWINSUK)
chr12:118831166 (GRCh38.p7) (12q24.23)
AD
GWASdb2
1   publication(s)
See rs on genome
91 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.118831166C>T
GRCh37.p13 chr 12NC_000012.11:g.119268971C>T

Gene: LOC105370016, uncharacterized LOC105370016(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC02439 transcriptNR_134997.1:n.N/AIntron Variant

Gene: LOC107984472, uncharacterized LOC107984472(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984472 transcriptXR_001749170.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.921T=0.079
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.783T=0.217
1000GenomesEuropeSub1006C=0.995T=0.005
1000GenomesGlobalStudy-wide5008C=0.904T=0.096
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.998T=0.002
The Genome Aggregation DatabaseAfricanSub8720C=0.923T=0.077
The Genome Aggregation DatabaseAmericanSub838C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1616C=0.736T=0.264
The Genome Aggregation DatabaseEuropeSub18486C=0.995T=0.004
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.957T=0.042
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.954T=0.045
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
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
rs47677250.000979alcohol dependence20201924

eQTL of rs4767725 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 rs4767725 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 )
chr12119264758119265338E067-3633
chr12119265418119265549E067-3422
chr12119265610119265660E067-3311
chr12119265707119265763E067-3208
chr12119280004119280083E06711033
chr12119280112119280240E06711141
chr12119280539119281071E06711568
chr12119281177119281235E06712206
chr12119281347119281397E06712376
chr12119289557119289639E06720586
chr12119289800119290109E06720829
chr12119290274119290335E06721303
chr12119290539119290627E06721568
chr12119264758119265338E068-3633
chr12119281177119281235E06812206
chr12119281347119281397E06812376
chr12119264758119265338E069-3633
chr12119265418119265549E069-3422
chr12119265610119265660E069-3311
chr12119265707119265763E069-3208
chr12119280004119280083E06911033
chr12119280112119280240E06911141
chr12119280539119281071E06911568
chr12119281177119281235E06912206
chr12119281347119281397E06912376
chr12119289557119289639E06920586
chr12119289800119290109E06920829
chr12119290274119290335E06921303
chr12119290539119290627E06921568
chr12119291182119291232E06922211
chr12119291365119291415E06922394
chr12119289436119289535E07020465
chr12119289557119289639E07020586
chr12119289800119290109E07020829
chr12119290274119290335E07021303
chr12119290539119290627E07021568
chr12119265610119265660E071-3311
chr12119265707119265763E071-3208
chr12119265999119266087E071-2884
chr12119280539119281071E07111568
chr12119281177119281235E07112206
chr12119281347119281397E07112376
chr12119289436119289535E07120465
chr12119289557119289639E07120586
chr12119289800119290109E07120829
chr12119290274119290335E07121303
chr12119264758119265338E072-3633
chr12119265418119265549E072-3422
chr12119265610119265660E072-3311
chr12119265707119265763E072-3208
chr12119279397119279793E07210426
chr12119280004119280083E07211033
chr12119280112119280240E07211141
chr12119280539119281071E07211568
chr12119281177119281235E07212206
chr12119281347119281397E07212376
chr12119281759119281809E07212788
chr12119289436119289535E07220465
chr12119289557119289639E07220586
chr12119289800119290109E07220829
chr12119290274119290335E07221303
chr12119290539119290627E07221568
chr12119291585119291691E07222614
chr12119280004119280083E07311033
chr12119280112119280240E07311141
chr12119280539119281071E07311568
chr12119281177119281235E07312206
chr12119281347119281397E07312376
chr12119290274119290335E07321303
chr12119290539119290627E07321568
chr12119264758119265338E074-3633
chr12119265418119265549E074-3422
chr12119281347119281397E07412376
chr12119289436119289535E07420465
chr12119289557119289639E07420586
chr12119289800119290109E07420829
chr12119291365119291415E07422394
chr12119291585119291691E07422614
chr12119268522119268587E081-384
chr12119280539119281071E08111568
chr12119281177119281235E08112206
chr12119281347119281397E08112376
chr12119289800119290109E08120829
chr12119290274119290335E08121303
chr12119290539119290627E08121568
chr12119280539119281071E08211568
chr12119289436119289535E08220465
chr12119289557119289639E08220586
chr12119289800119290109E08220829
chr12119290274119290335E08221303
chr12119290539119290627E08221568