rs4509227

Homo sapiens
T>A / T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0096 (2881/29920,GnomAD)
C=0080 (2336/29118,TOPMED)
C=0114 (569/5008,1000G)
C=0123 (474/3854,ALSPAC)
C=0128 (473/3708,TWINSUK)
chr7:9407710 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.9407710T>A
GRCh38.p7 chr 7NC_000007.14:g.9407710T>C
GRCh37.p13 chr 7NC_000007.13:g.9447340T>A
GRCh37.p13 chr 7NC_000007.13:g.9447340T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.978C=0.022
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.920C=0.080
1000GenomesEuropeSub1006T=0.910C=0.090
1000GenomesGlobalStudy-wide5008T=0.886C=0.114
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.877C=0.123
The Genome Aggregation DatabaseAfricanSub8722T=0.968C=0.032
The Genome Aggregation DatabaseAmericanSub836T=0.890C=0.11,
The Genome Aggregation DatabaseEast AsianSub1620T=0.922C=0.078
The Genome Aggregation DatabaseEuropeSub18440T=0.873C=0.126
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.903C=0.096
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.15,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.919C=0.080
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.872C=0.128
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs45092270.00027alcohol consumption (maxi-drinks)24277619

eQTL of rs4509227 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 rs4509227 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 )
chr782522368252808E067-38849
chr782568538257507E067-34150
chr782939088293978E0672251
chr782427018242741E068-48916
chr782604618260535E068-31122
chr782605468260630E068-31027
chr782763848276893E068-14764
chr782534588254694E069-36963
chr782604618260535E069-31122
chr782466958246823E070-44834
chr782469058247049E070-44608
chr782493218249858E070-41799
chr782498988250025E070-41632
chr782518918251941E070-39716
chr782522368252808E070-38849
chr782530228253108E070-38549
chr782531458253237E070-38420
chr782534588254694E070-36963
chr782547238254871E070-36786
chr782568538257507E070-34150
chr782568538257507E071-34150
chr782762908276346E071-15311
chr782763848276893E071-14764
chr782534588254694E072-36963
chr782568538257507E072-34150
chr782534588254694E073-36963
chr782547238254871E073-36786
chr782995888299792E0737931
chr782534588254694E081-36963
chr782547238254871E081-36786
chr782554208255688E081-35969
chr782534588254694E082-36963
chr782547238254871E082-36786
chr782568538257507E082-34150









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr783004018302825E0678744
chr783004018302825E0688744
chr783004018302825E0698744
chr783004018302825E0708744
chr783004018302825E0718744
chr783004018302825E0728744
chr783004018302825E0738744
chr783004018302825E0748744
chr783004018302825E0828744