rs705648

Homo sapiens
C>T
PECR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0238 (7119/29892,GnomAD)
C==0261 (7604/29118,TOPMED)
C==0258 (1292/5008,1000G)
C==0265 (1021/3854,ALSPAC)
C==0261 (968/3708,TWINSUK)
chr2:216069069 (GRCh38.p7) (2q35)
AD
GWASdb2
2   publication(s)
See rs on genome
111 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.216069069C>T
GRCh37.p13 chr 2NC_000002.11:g.216933792C>T

Gene: PECR, peroxisomal trans-2-enoyl-CoA reductase(minus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.179T=0.821
1000GenomesAmericanSub694C=0.210T=0.790
1000GenomesEast AsianSub1008C=0.292T=0.708
1000GenomesEuropeSub1006C=0.253T=0.747
1000GenomesGlobalStudy-wide5008C=0.258T=0.742
1000GenomesSouth AsianSub978C=0.370T=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.265T=0.735
The Genome Aggregation DatabaseAfricanSub8708C=0.192T=0.808
The Genome Aggregation DatabaseAmericanSub836C=0.190T=0.810
The Genome Aggregation DatabaseEast AsianSub1612C=0.280T=0.720
The Genome Aggregation DatabaseEuropeSub18434C=0.257T=0.742
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.238T=0.761
The Genome Aggregation DatabaseOtherSub302C=0.320T=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.261T=0.738
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.261T=0.739
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry
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
rs7056486.17E-05alcohol dependence19581569

eQTL of rs705648 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 rs705648 in Fetal Brain

Probe ID Position Gene beta p-value
cg12620499chr2:216877984MREG-0.0122881712605474.0868e-16

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 )
chr2216948349216949285E06714557
chr2216949316216949652E06715524
chr2216969335216969508E06735543
chr2216978907216979006E06745115
chr2216980414216980458E06746622
chr2216980590216980634E06746798
chr2216981133216981302E06747341
chr2216981514216981566E06747722
chr2216981782216981897E06747990
chr2216982079216982136E06748287
chr2216982400216982566E06748608
chr2216982680216982928E06748888
chr2216983330216983483E06749538
chr2216896711216897035E068-36757
chr2216897191216897259E068-36533
chr2216897639216897744E068-36048
chr2216898385216898439E068-35353
chr2216898469216898525E068-35267
chr2216898666216899155E068-34637
chr2216947657216947835E06813865
chr2216948066216948106E06814274
chr2216948349216949285E06814557
chr2216980414216980458E06846622
chr2216980590216980634E06846798
chr2216981133216981302E06847341
chr2216981514216981566E06847722
chr2216948349216949285E06914557
chr2216949316216949652E06915524
chr2216969335216969508E06935543
chr2216976106216976214E06942314
chr2216977786216977855E06943994
chr2216978907216979006E06945115
chr2216981133216981302E06947341
chr2216981514216981566E06947722
chr2216982079216982136E06948287
chr2216982400216982566E06948608
chr2216982680216982928E06948888
chr2216983330216983483E06949538
chr2216897191216897259E070-36533
chr2216949316216949652E07015524
chr2216976106216976214E07042314
chr2216976838216976878E07043046
chr2216981782216981897E07047990
chr2216982079216982136E07048287
chr2216982400216982566E07048608
chr2216982680216982928E07048888
chr2216983330216983483E07049538
chr2216948066216948106E07114274
chr2216948349216949285E07114557
chr2216976106216976214E07142314
chr2216976838216976878E07143046
chr2216977786216977855E07143994
chr2216978907216979006E07145115
chr2216980414216980458E07146622
chr2216980590216980634E07146798
chr2216983330216983483E07149538
chr2216948066216948106E07214274
chr2216949316216949652E07215524
chr2216978907216979006E07245115
chr2216980414216980458E07246622
chr2216980590216980634E07246798
chr2216981133216981302E07247341
chr2216981514216981566E07247722
chr2216981782216981897E07247990
chr2216982079216982136E07248287
chr2216982400216982566E07248608
chr2216983330216983483E07249538
chr2216896711216897035E073-36757
chr2216897191216897259E073-36533
chr2216976106216976214E07342314
chr2216977786216977855E07343994
chr2216978302216978465E07344510
chr2216978519216978706E07344727
chr2216978773216978865E07344981
chr2216980414216980458E07346622
chr2216980590216980634E07346798
chr2216981133216981302E07347341
chr2216981514216981566E07347722
chr2216981782216981897E07347990
chr2216982400216982566E07348608
chr2216983330216983483E07349538
chr2216947657216947835E07413865
chr2216948066216948106E07414274
chr2216948349216949285E07414557
chr2216949316216949652E07415524
chr2216935916216936139E0812124
chr2216936253216936312E0812461
chr2216936385216936435E0812593
chr2216948066216948106E08114274
chr2216948349216949285E08114557
chr2216949316216949652E08115524
chr2216963234216963399E08129442
chr2216976106216976214E08142314
chr2216980414216980458E08146622
chr2216980590216980634E08146798
chr2216981133216981302E08147341
chr2216981514216981566E08147722
chr2216981782216981897E08147990
chr2216982079216982136E08148287
chr2216982680216982928E08148888
chr2216935396216935478E0821604
chr2216935916216936139E0822124
chr2216949316216949652E08215524
chr2216950024216950067E08216232
chr2216972830216972955E08239038
chr2216978302216978465E08244510
chr2216978519216978706E08244727
chr2216978773216978865E08244981
chr2216981133216981302E08247341
chr2216981514216981566E08247722
chr2216983330216983483E08249538










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2216946052216947441E06712260
chr2216973660216974604E06739868
chr2216974640216974743E06740848
chr2216974792216975337E06741000
chr2216979045216980340E06745253
chr2216946052216947441E06812260
chr2216973660216974604E06839868
chr2216974640216974743E06840848
chr2216974792216975337E06841000
chr2216979045216980340E06845253
chr2216946052216947441E06912260
chr2216973660216974604E06939868
chr2216974640216974743E06940848
chr2216974792216975337E06941000
chr2216979045216980340E06945253
chr2216946052216947441E07012260
chr2216973660216974604E07039868
chr2216974640216974743E07040848
chr2216974792216975337E07041000
chr2216979045216980340E07045253
chr2216946052216947441E07112260
chr2216973660216974604E07139868
chr2216974640216974743E07140848
chr2216974792216975337E07141000
chr2216979045216980340E07145253
chr2216946052216947441E07212260
chr2216973660216974604E07239868
chr2216974640216974743E07240848
chr2216974792216975337E07241000
chr2216979045216980340E07245253
chr2216946052216947441E07312260
chr2216973660216974604E07339868
chr2216974640216974743E07340848
chr2216974792216975337E07341000
chr2216979045216980340E07345253
chr2216946052216947441E07412260
chr2216973660216974604E07439868
chr2216974640216974743E07440848
chr2216979045216980340E07445253
chr2216946052216947441E08112260
chr2216973660216974604E08139868
chr2216974640216974743E08140848
chr2216974792216975337E08141000
chr2216946052216947441E08212260
chr2216973660216974604E08239868
chr2216974640216974743E08240848
chr2216974792216975337E08241000
chr2216979045216980340E08245253