rs4894243

Homo sapiens
C>T
LOC105373760 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0441 (13201/29878,GnomAD)
C==0492 (14340/29118,TOPMED)
C==0383 (1920/5008,1000G)
C==0367 (1415/3854,ALSPAC)
C==0384 (1424/3708,TWINSUK)
chr2:177097413 (GRCh38.p7) (2q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.177097413C>T
GRCh37.p13 chr 2NC_000002.11:g.177962141C>T

Gene: LOC105373760, uncharacterized LOC105373760(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373760 transcript variant X1XR_001739795.1:n.N/AIntron Variant
LOC105373760 transcript variant X3XR_001739796.1:n.N/AIntron Variant
LOC105373760 transcript variant X2XR_923622.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.669T=0.331
1000GenomesAmericanSub694C=0.290T=0.710
1000GenomesEast AsianSub1008C=0.201T=0.799
1000GenomesEuropeSub1006C=0.420T=0.580
1000GenomesGlobalStudy-wide5008C=0.383T=0.617
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.367T=0.633
The Genome Aggregation DatabaseAfricanSub8682C=0.635T=0.365
The Genome Aggregation DatabaseAmericanSub834C=0.270T=0.730
The Genome Aggregation DatabaseEast AsianSub1612C=0.203T=0.797
The Genome Aggregation DatabaseEuropeSub18450C=0.379T=0.620
The Genome Aggregation DatabaseGlobalStudy-wide29878C=0.441T=0.558
The Genome Aggregation DatabaseOtherSub300C=0.430T=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.492T=0.507
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.384T=0.616
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs48942437.46E-05alcohol dependence19581569

eQTL of rs4894243 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 rs4894243 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 )
chr2177916653177916740E070-45401
chr2177916901177916955E070-45186
chr2177917070177917313E070-44828
chr2177917736177917840E070-44301
chr2177916901177916955E081-45186
chr2177917070177917313E081-44828
chr2177936905177937174E081-24967
chr2178011652178011747E08249511