rs4356268

Homo sapiens
A>G
POU2AF1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0374 (11197/29918,GnomAD)
A==0396 (11535/29118,TOPMED)
A==0479 (2398/5008,1000G)
A==0256 (987/3854,ALSPAC)
A==0251 (930/3708,TWINSUK)
chr11:111379925 (GRCh38.p7) (11q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
61 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.111379925A>G
GRCh37.p13 chr 11NC_000011.9:g.111250650A>G

Gene: POU2AF1, POU class 2 associating factor 1(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
POU2AF1 transcriptNM_006235.2:c.N/AUpstream Transcript Variant
POU2AF1 transcript variant X2XM_005271594.3:c.N/AUpstream Transcript Variant
POU2AF1 transcript variant X3XM_006718859.1:c.N/AUpstream Transcript Variant
POU2AF1 transcript variant X5XM_017017932.1:c.N/AUpstream Transcript Variant
POU2AF1 transcript variant X1XM_005271593.1:c.N/AN/A
POU2AF1 transcript variant X4XM_006718860.3:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.611G=0.389
1000GenomesAmericanSub694A=0.210G=0.790
1000GenomesEast AsianSub1008A=0.609G=0.391
1000GenomesEuropeSub1006A=0.248G=0.752
1000GenomesGlobalStudy-wide5008A=0.479G=0.521
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.256G=0.744
The Genome Aggregation DatabaseAfricanSub8698A=0.565G=0.435
The Genome Aggregation DatabaseAmericanSub836A=0.190G=0.810
The Genome Aggregation DatabaseEast AsianSub1616A=0.624G=0.376
The Genome Aggregation DatabaseEuropeSub18470A=0.272G=0.727
The Genome Aggregation DatabaseGlobalStudy-wide29918A=0.374G=0.625
The Genome Aggregation DatabaseOtherSub298A=0.270G=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.396G=0.603
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.251G=0.749
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
rs43562680.000584alcohol dependence20201924

eQTL of rs4356268 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 rs4356268 in Fetal Brain

Probe ID Position Gene beta p-value
cg18316498chr11:111250196POU2AF1-0.04527352824366043.0530e-19
cg24049888chr11:111250129POU2AF1-0.08638008912806967.5158e-18
cg11362935chr11:111250201POU2AF1-0.05078650957118053.4064e-16
cg19148410chr11:111250352POU2AF1-0.03253225663646628.5291e-13
cg01212326chr11:111250286POU2AF1-0.03806935026210668.0016e-9

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 )
chr11111288275111288960E06737625
chr11111289986111290098E06739336
chr11111290110111290172E06739460
chr11111290230111291022E06739580
chr11111201139111201595E068-49055
chr11111243625111243676E068-6974
chr11111243916111243976E068-6674
chr11111244009111244076E068-6574
chr11111259052111259102E0688402
chr11111259201111259274E0688551
chr11111288275111288960E06837625
chr11111289037111289822E06838387
chr11111289986111290098E06839336
chr11111290110111290172E06839460
chr11111290230111291022E06839580
chr11111291062111291123E06840412
chr11111243471111243525E069-7125
chr11111243625111243676E069-6974
chr11111243916111243976E069-6674
chr11111258133111258368E0697483
chr11111287520111288263E06936870
chr11111288275111288960E06937625
chr11111289986111290098E06939336
chr11111290110111290172E06939460
chr11111290230111291022E06939580
chr11111258133111258368E0707483
chr11111243199111243239E071-7411
chr11111243471111243525E071-7125
chr11111243625111243676E071-6974
chr11111243916111243976E071-6674
chr11111258133111258368E0717483
chr11111287520111288263E07136870
chr11111288275111288960E07137625
chr11111289037111289822E07138387
chr11111289986111290098E07139336
chr11111290110111290172E07139460
chr11111290230111291022E07139580
chr11111243199111243239E072-7411
chr11111243916111243976E072-6674
chr11111258133111258368E0727483
chr11111287520111288263E07236870
chr11111288275111288960E07237625
chr11111289986111290098E07239336
chr11111290110111290172E07239460
chr11111290230111291022E07239580
chr11111243471111243525E073-7125
chr11111288275111288960E07337625
chr11111289037111289822E07338387
chr11111289986111290098E07339336
chr11111290110111290172E07339460
chr11111290230111291022E07339580
chr11111243199111243239E074-7411
chr11111243471111243525E074-7125
chr11111243625111243676E074-6974
chr11111243916111243976E074-6674
chr11111258133111258368E0747483
chr11111288275111288960E07437625
chr11111289037111289822E07438387
chr11111289986111290098E07439336
chr11111290110111290172E07439460
chr11111290230111291022E07439580