rs12576969

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0232 (6923/29830,GnomAD)
A==0253 (7383/29118,TOPMED)
A==0244 (1221/5008,1000G)
A==0146 (563/3854,ALSPAC)
A==0161 (596/3708,TWINSUK)
chr11:66035007 (GRCh38.p7) (11q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
134 Enhancers around
57 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.66035007A>G
GRCh37.p13 chr 11NC_000011.9:g.65802478A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.399G=0.601
1000GenomesAmericanSub694A=0.160G=0.840
1000GenomesEast AsianSub1008A=0.236G=0.764
1000GenomesEuropeSub1006A=0.163G=0.837
1000GenomesGlobalStudy-wide5008A=0.244G=0.756
1000GenomesSouth AsianSub978A=0.190G=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.146G=0.854
The Genome Aggregation DatabaseAfricanSub8664A=0.380G=0.620
The Genome Aggregation DatabaseAmericanSub838A=0.120G=0.880
The Genome Aggregation DatabaseEast AsianSub1610A=0.237G=0.763
The Genome Aggregation DatabaseEuropeSub18418A=0.167G=0.832
The Genome Aggregation DatabaseGlobalStudy-wide29830A=0.232G=0.767
The Genome Aggregation DatabaseOtherSub300A=0.210G=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.253G=0.746
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.161G=0.839
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
rs125769690.000971alcohol dependence24277619

eQTL of rs12576969 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G5.2030e-15-211232Cerebellum
Chr11:65802478PACS1ENSG00000175115.7A>G2.1686e-5-35447Frontal_Cortex_BA9
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G3.2381e-14-211232Frontal_Cortex_BA9
Chr11:65802478RIN1ENSG00000174791.6A>G4.6184e-3-301833Frontal_Cortex_BA9
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G3.8676e-15-211232Hypothalamus
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G1.1036e-12-211232Cortex
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G4.1918e-14-211232Cerebellar_Hemisphere
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G1.2338e-19-211232Caudate_basal_ganglia
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G2.6494e-15-211232Hippocampus
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G1.8672e-13-211232Putamen_basal_ganglia
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G3.9716e-15-211232Anterior_cingulate_cortex
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G6.2681e-22-211232Nucleus_accumbens_basal_ganglia
Chr11:65802478RP11-755F10.1ENSG00000255320.1A>G5.1901e-11-211232Amygdala

meQTL of rs12576969 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 )
chr116575622365757062E067-45416
chr116576784065768004E067-34474
chr116576853065768584E067-33894
chr116577113565771208E067-31270
chr116581218065813438E0679702
chr116581511265815462E06712634
chr116581557365815623E06713095
chr116582103465821110E06718556
chr116582115465821227E06718676
chr116584037365840413E06737895
chr116584047765840729E06737999
chr116584078965840866E06738311
chr116585038865851221E06747910
chr116585124465851581E06748766
chr116585188865851938E06749410
chr116585201165852061E06749533
chr116585208465852177E06749606
chr116585220865852271E06749730
chr116575622365757062E068-45416
chr116576754465767694E068-34784
chr116576784065768004E068-34474
chr116576803065768080E068-34398
chr116576853065768584E068-33894
chr116581711465817396E06814636
chr116584751465847554E06845036
chr116584756865847628E06845090
chr116584764765847821E06845169
chr116584784765847944E06845369
chr116584797665848368E06845498
chr116585038865851221E06847910
chr116585124465851581E06848766
chr116585188865851938E06849410
chr116585201165852061E06849533
chr116585208465852177E06849606
chr116585220865852271E06849730
chr116575622365757062E069-45416
chr116576784065768004E069-34474
chr116576803065768080E069-34398
chr116576853065768584E069-33894
chr116577113565771208E069-31270
chr116581218065813438E0699702
chr116581350065813886E06911022
chr116581557365815623E06913095
chr116581566565815747E06913187
chr116582103465821110E06918556
chr116582115465821227E06918676
chr116584984765849971E06947369
chr116584999565850070E06947517
chr116585038865851221E06947910
chr116585124465851581E06948766
chr116576730765767362E070-35116
chr116576742465767499E070-34979
chr116576754465767694E070-34784
chr116577113565771208E070-31270
chr116581488265815037E07012404
chr116581511265815462E07012634
chr116584037365840413E07037895
chr116585124465851581E07048766
chr116576754465767694E071-34784
chr116576784065768004E071-34474
chr116576803065768080E071-34398
chr116576853065768584E071-33894
chr116581454165814625E07112063
chr116581511265815462E07112634
chr116581557365815623E07113095
chr116583427565834594E07131797
chr116583480165834872E07132323
chr116583493265835226E07132454
chr116584756865847628E07145090
chr116584764765847821E07145169
chr116584784765847944E07145369
chr116585124465851581E07148766
chr116575622365757062E072-45416
chr116577113565771208E072-31270
chr116579050865790576E072-11902
chr116581454165814625E07212063
chr116581463465814684E07212156
chr116581475065814846E07212272
chr116581488265815037E07212404
chr116581511265815462E07212634
chr116585038865851221E07247910
chr116585124465851581E07248766
chr116585188865851938E07249410
chr116585201165852061E07249533
chr116585208465852177E07249606
chr116585220865852271E07249730
chr116576742465767499E073-34979
chr116576754465767694E073-34784
chr116576784065768004E073-34474
chr116577124965771366E073-31112
chr116577169365771764E073-30714
chr116577180765772088E073-30390
chr116581511265815462E07312634
chr116581711465817396E07314636
chr116582103465821110E07318556
chr116582115465821227E07318676
chr116585038865851221E07347910
chr116585124465851581E07348766
chr116585188865851938E07349410
chr116585201165852061E07349533
chr116585208465852177E07349606
chr116575622365757062E074-45416
chr116576754465767694E074-34784
chr116576784065768004E074-34474
chr116576803065768080E074-34398
chr116582103465821110E07418556
chr116582115465821227E07418676
chr116576754465767694E081-34784
chr116576784065768004E081-34474
chr116576803065768080E081-34398
chr116576853065768584E081-33894
chr116577113565771208E081-31270
chr116577124965771366E081-31112
chr116577169365771764E081-30714
chr116581488265815037E08112404
chr116581511265815462E08112634
chr116581557365815623E08113095
chr116581566565815747E08113187
chr116581711465817396E08114636
chr116582103465821110E08118556
chr116582115465821227E08118676
chr116583480165834872E08132323
chr116583493265835226E08132454
chr116584037365840413E08137895
chr116584047765840729E08137999
chr116584078965840866E08138311
chr116585038865851221E08147910
chr116585124465851581E08148766
chr116581463465814684E08212156
chr116581475065814846E08212272
chr116581488265815037E08212404
chr116581511265815462E08212634
chr116581711465817396E08214636
chr116584037365840413E08237895










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr116576861765768685E067-33793
chr116576877665768826E067-33652
chr116576899165770709E067-31769
chr116581609265817011E06713614
chr116581815565820689E06715677
chr116583523165839475E06732753
chr116576861765768685E068-33793
chr116576877665768826E068-33652
chr116576899165770709E068-31769
chr116581609265817011E06813614
chr116581815565820689E06815677
chr116583523165839475E06832753
chr116576861765768685E069-33793
chr116576877665768826E069-33652
chr116576899165770709E069-31769
chr116581609265817011E06913614
chr116581815565820689E06915677
chr116583523165839475E06932753
chr116576861765768685E070-33793
chr116576877665768826E070-33652
chr116576899165770709E070-31769
chr116581609265817011E07013614
chr116581815565820689E07015677
chr116583523165839475E07032753
chr116576861765768685E071-33793
chr116576877665768826E071-33652
chr116576899165770709E071-31769
chr116577933365779792E071-22686
chr116581609265817011E07113614
chr116581815565820689E07115677
chr116583523165839475E07132753
chr116576861765768685E072-33793
chr116576877665768826E072-33652
chr116576899165770709E072-31769
chr116581609265817011E07213614
chr116581815565820689E07215677
chr116583523165839475E07232753
chr116576861765768685E073-33793
chr116576877665768826E073-33652
chr116576899165770709E073-31769
chr116577933365779792E073-22686
chr116581609265817011E07313614
chr116581815565820689E07315677
chr116583523165839475E07332753
chr116576861765768685E074-33793
chr116576877665768826E074-33652
chr116576899165770709E074-31769
chr116581815565820689E07415677
chr116583523165839475E07432753
chr116576899165770709E081-31769
chr116581815565820689E08115677
chr116576861765768685E082-33793
chr116576877665768826E082-33652
chr116576899165770709E082-31769
chr116581609265817011E08213614
chr116581815565820689E08215677
chr116583523165839475E08232753