rs994247

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0084 (2527/29890,GnomAD)
T=0087 (2555/29118,TOPMED)
T=0104 (523/5008,1000G)
T=0062 (239/3854,ALSPAC)
T=0064 (236/3708,TWINSUK)
chr7:8760938 (GRCh38.p7) (7p21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.8760938C>T
GRCh37.p13 chr 7NC_000007.13:g.8800568C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.863T=0.137
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=0.900T=0.100
1000GenomesEuropeSub1006C=0.929T=0.071
1000GenomesGlobalStudy-wide5008C=0.896T=0.104
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.938T=0.062
The Genome Aggregation DatabaseAfricanSub8716C=0.873T=0.127
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1582C=0.872T=0.128
The Genome Aggregation DatabaseEuropeSub18452C=0.936T=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.915T=0.084
The Genome Aggregation DatabaseOtherSub302C=0.960T=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.912T=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.936T=0.064
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs9942475.68E-06alcohol and nictotine co-dependence20158304

eQTL of rs994247 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 rs994247 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 )
chr787625588762612E067-37956
chr787626258762675E067-37893
chr787627228762923E067-37645
chr787625588762612E069-37956
chr787626258762675E069-37893
chr787627228762923E069-37645
chr787635228763611E069-36957
chr787637148764214E069-36354
chr787643338764405E069-36163
chr787645368764639E069-35929
chr787868128786859E069-13709
chr787871058787179E069-13389
chr787871858787295E069-13273
chr787619268762104E070-38464
chr787621168762166E070-38402
chr787623558762405E070-38163
chr787625588762612E070-37956
chr787626258762675E070-37893
chr787627228762923E070-37645
chr787635228763611E070-36957
chr787623558762405E071-38163
chr787625588762612E071-37956
chr787626258762675E071-37893
chr787627228762923E071-37645
chr787625588762612E074-37956
chr787626258762675E074-37893
chr787627228762923E074-37645