rs1344694

Homo sapiens
T>G
PECR : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0299 (8895/29714,GnomAD)
T==0313 (9121/29118,TOPMED)
T==0301 (1509/5008,1000G)
T==0337 (1300/3854,ALSPAC)
T==0336 (1245/3708,TWINSUK)
chr2:216028914 (GRCh38.p7) (2q35)
AD
GWASdb2 | GWASCatalog
7   publication(s)
See rs on genome
30 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.216028914T>G
GRCh37.p13 chr 2NC_000002.11:g.216893637T>G

Gene: PECR, peroxisomal trans-2-enoyl-CoA reductase(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
PECR transcriptNM_018441.5:c.N/AN/A
PECR transcript variant X4XM_011511478.2:c.N/AN/A
PECR transcript variant X1XR_001738847.1:n.N/ADownstream Transcript Variant
PECR transcript variant X2XR_001738848.1:n.N/AN/A
PECR transcript variant X3XR_001738849.1:n.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.216G=0.784
1000GenomesAmericanSub694T=0.250G=0.750
1000GenomesEast AsianSub1008T=0.314G=0.686
1000GenomesEuropeSub1006T=0.336G=0.664
1000GenomesGlobalStudy-wide5008T=0.301G=0.699
1000GenomesSouth AsianSub978T=0.400G=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.337G=0.663
The Genome Aggregation DatabaseAfricanSub8676T=0.233G=0.767
The Genome Aggregation DatabaseAmericanSub824T=0.220G=0.780
The Genome Aggregation DatabaseEast AsianSub1620T=0.306G=0.694
The Genome Aggregation DatabaseEuropeSub18292T=0.332G=0.667
The Genome Aggregation DatabaseGlobalStudy-wide29714T=0.299G=0.700
The Genome Aggregation DatabaseOtherSub302T=0.390G=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.313G=0.686
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.336G=0.664
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry
22281715Recent advances in the genetic epidemiology and molecular genetics of substance use disorders.Kendler KSNat Neurosci
22004471Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.Frank JAddict Biol
21471458Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.Schumann GProc Natl Acad Sci U S A
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A
21876473Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder.Lydall GJPsychiatr Genet
25035082XRCC5 as a risk gene for alcohol dependence: evidence from a genome-wide gene-set-based analysis and follow-up studies in Drosophila and humans.Juraeva DNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs13446940.000005alcohol dependence22004471
rs13446940.0000147alcohol dependence19581569

eQTL of rs1344694 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 rs1344694 in Fetal Brain

Probe ID Position Gene beta p-value
cg12620499chr2:216877984MREG-0.01459309331192292.0441e-26

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 )
chr2216863175216864003E067-29634
chr2216863175216864003E068-29634
chr2216896711216897035E0683074
chr2216897191216897259E0683554
chr2216897639216897744E0684002
chr2216898385216898439E0684748
chr2216898469216898525E0684832
chr2216898666216899155E0685029
chr2216863175216864003E069-29634
chr2216897191216897259E0703554
chr2216863175216864003E071-29634
chr2216866717216866864E071-26773
chr2216866900216867004E071-26633
chr2216867076216867346E071-26291
chr2216878765216878940E071-14697
chr2216863175216864003E072-29634
chr2216865826216865898E072-27739
chr2216878765216878940E072-14697
chr2216859442216859505E073-34132
chr2216896711216897035E0733074
chr2216897191216897259E0733554
chr2216863175216864003E074-29634
chr2216878765216878940E074-14697
chr2216878765216878940E081-14697
chr2216935916216936139E08142279
chr2216936253216936312E08142616
chr2216936385216936435E08142748
chr2216868868216868965E082-24672
chr2216935396216935478E08241759
chr2216935916216936139E08242279










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2216876822216878657E067-14980
chr2216876822216878657E068-14980
chr2216876822216878657E069-14980
chr2216876822216878657E070-14980
chr2216876822216878657E071-14980
chr2216876822216878657E072-14980
chr2216876822216878657E073-14980
chr2216876822216878657E074-14980
chr2216876822216878657E081-14980
chr2216876822216878657E082-14980