rs12527834

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0063 (1894/29994,GnomAD)
G=0056 (1653/29118,TOPMED)
G=0040 (198/5008,1000G)
G=0082 (317/3854,ALSPAC)
G=0081 (302/3708,TWINSUK)
chr6:19821550 (GRCh38.p7) (6p22.3)
AD
GWASdb2
2   publication(s)
See rs on genome
22 Enhancers around
66 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.19821550A>G
GRCh37.p13 chr 6NC_000006.11:g.19821781A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.986G=0.014
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.998G=0.002
1000GenomesEuropeSub1006A=0.900G=0.100
1000GenomesGlobalStudy-wide5008A=0.960G=0.040
1000GenomesSouth AsianSub978A=0.970G=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.918G=0.082
The Genome Aggregation DatabaseAfricanSub8734A=0.974G=0.026
The Genome Aggregation DatabaseAmericanSub838A=0.940G=0.060
The Genome Aggregation DatabaseEast AsianSub1620A=0.999G=0.001
The Genome Aggregation DatabaseEuropeSub18500A=0.914G=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29994A=0.936G=0.063
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.943G=0.056
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.919G=0.081
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs125278348.24E-05alcohol dependence19581569

eQTL of rs12527834 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G2.2212e-916798Cerebellum
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G2.1965e-716798Frontal_Cortex_BA9
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G3.8550e-716798Hypothalamus
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G7.0801e-816798Cortex
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G1.0588e-616798Cerebellar_Hemisphere
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G3.2891e-1216798Caudate_basal_ganglia
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G7.5776e-816798Hippocampus
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G3.3234e-416798Substantia_nigra
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G2.5605e-1216798Putamen_basal_ganglia
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G4.3342e-1116798Anterior_cingulate_cortex
Chr6:19821781RP4-625H18.2ENSG00000228412.2A>G2.9274e-816798Nucleus_accumbens_basal_ganglia

meQTL of rs12527834 in Fetal Brain

Probe ID Position Gene beta p-value
cg02682789chr6:198048550.02960810265684118.2693e-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 )
chr61984495619845139E06823175
chr61984523819845294E06823457
chr61984530919845377E06823528
chr61985163619852434E06929855
chr61984240119842461E07020620
chr61984258919842876E07020808
chr61986410919864244E07042328
chr61986552319865720E07043742
chr61986584119865892E07044060
chr61980587819806006E071-15775
chr61983636719836417E07114586
chr61983652519836600E07114744
chr61985163619852434E07129855
chr61985163619852434E07429855
chr61983636719836417E08114586
chr61983652519836600E08114744
chr61985163619852434E08129855
chr61986410919864244E08142328
chr61986705719867165E08145276
chr61983652519836600E08214744
chr61986084519861001E08239064
chr61986118919861539E08239408







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr61980367619805857E067-15924
chr61983678119836868E06715000
chr61983688819839595E06715107
chr61984014119840525E06718360
chr61984056319840672E06718782
chr61980367619805857E068-15924
chr61983678119836868E06815000
chr61983688819839595E06815107
chr61983963319839832E06817852
chr61984014119840525E06818360
chr61984056319840672E06818782
chr61984089619840969E06819115
chr61984106519841134E06819284
chr61980367619805857E069-15924
chr61983678119836868E06915000
chr61983688819839595E06915107
chr61983963319839832E06917852
chr61984014119840525E06918360
chr61984056319840672E06918782
chr61980367619805857E070-15924
chr61983678119836868E07015000
chr61983688819839595E07015107
chr61983963319839832E07017852
chr61984014119840525E07018360
chr61984056319840672E07018782
chr61984089619840969E07019115
chr61984106519841134E07019284
chr61980367619805857E071-15924
chr61983678119836868E07115000
chr61983688819839595E07115107
chr61984056319840672E07118782
chr61984089619840969E07119115
chr61980367619805857E072-15924
chr61983688819839595E07215107
chr61983963319839832E07217852
chr61984014119840525E07218360
chr61984056319840672E07218782
chr61984089619840969E07219115
chr61984106519841134E07219284
chr61980367619805857E073-15924
chr61983678119836868E07315000
chr61983688819839595E07315107
chr61983963319839832E07317852
chr61984014119840525E07318360
chr61984056319840672E07318782
chr61984089619840969E07319115
chr61980367619805857E074-15924
chr61983678119836868E07415000
chr61983688819839595E07415107
chr61983963319839832E07417852
chr61984014119840525E07418360
chr61984056319840672E07418782
chr61983688819839595E08115107
chr61983963319839832E08117852
chr61984014119840525E08118360
chr61984056319840672E08118782
chr61984089619840969E08119115
chr61984106519841134E08119284
chr61980367619805857E082-15924
chr61983678119836868E08215000
chr61983688819839595E08215107
chr61983963319839832E08217852
chr61984014119840525E08218360
chr61984056319840672E08218782
chr61984089619840969E08219115
chr61984106519841134E08219284