rs12547609

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0174 (5214/29928,GnomAD)
C=0192 (5594/29118,TOPMED)
C=0150 (751/5008,1000G)
C=0194 (749/3854,ALSPAC)
C=0198 (733/3708,TWINSUK)
chr8:41114714 (GRCh38.p7) (8p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
96 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.41114714A>C
GRCh37.p13 chr 8NC_000008.10:g.40972233A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.793C=0.207
1000GenomesAmericanSub694A=0.820C=0.180
1000GenomesEast AsianSub1008A=0.954C=0.046
1000GenomesEuropeSub1006A=0.814C=0.186
1000GenomesGlobalStudy-wide5008A=0.850C=0.150
1000GenomesSouth AsianSub978A=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.806C=0.194
The Genome Aggregation DatabaseAfricanSub8700A=0.810C=0.190
The Genome Aggregation DatabaseAmericanSub836A=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1622A=0.957C=0.043
The Genome Aggregation DatabaseEuropeSub18468A=0.820C=0.179
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.825C=0.174
The Genome Aggregation DatabaseOtherSub302A=0.840C=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.807C=0.192
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.802C=0.198
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs125476093.02E-05alcohol dependence21703634

eQTL of rs12547609 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 rs12547609 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 )
chr84095664640956823E067-15410
chr84095693340956983E067-15250
chr84095843640959066E067-13167
chr84101535141017103E06743118
chr84101883241019977E06746599
chr84095637340956547E068-15686
chr84095664640956823E068-15410
chr84095693340956983E068-15250
chr84095787740958229E068-14004
chr84095843640959066E068-13167
chr84098310640983258E06810873
chr84098334640983565E06811113
chr84098356640983966E06811333
chr84101535141017103E06843118
chr84095637340956547E069-15686
chr84095664640956823E069-15410
chr84095693340956983E069-15250
chr84095713640957193E069-15040
chr84095728840957389E069-14844
chr84095787740958229E069-14004
chr84095843640959066E069-13167
chr84098356640983966E06911333
chr84100364241004576E06931409
chr84101453841014650E06942305
chr84101479941014926E06942566
chr84101496541015191E06942732
chr84101520341015290E06942970
chr84101535141017103E06943118
chr84093498740935164E070-37069
chr84093525540935870E070-36363
chr84093612640936318E070-35915
chr84093634140936403E070-35830
chr84093649640936624E070-35609
chr84093688640937001E070-35232
chr84093751340937563E070-34670
chr84101883241019977E07046599
chr84095637340956547E071-15686
chr84095664640956823E071-15410
chr84095693340956983E071-15250
chr84095713640957193E071-15040
chr84095728840957389E071-14844
chr84095787740958229E071-14004
chr84095843640959066E071-13167
chr84095920640959298E071-12935
chr84095956740959617E071-12616
chr84097344940973538E0711216
chr84097360040973654E0711367
chr84097374640973915E0711513
chr84098310640983258E07110873
chr84098334640983565E07111113
chr84098356640983966E07111333
chr84101453841014650E07142305
chr84101479941014926E07142566
chr84101496541015191E07142732
chr84101520341015290E07142970
chr84101535141017103E07143118
chr84101883241019977E07146599
chr84094104740941097E072-31136
chr84094110140941225E072-31008
chr84095664640956823E072-15410
chr84095693340956983E072-15250
chr84095713640957193E072-15040
chr84095728840957389E072-14844
chr84095787740958229E072-14004
chr84095843640959066E072-13167
chr84095664640956823E073-15410
chr84095693340956983E073-15250
chr84095713640957193E073-15040
chr84095728840957389E073-14844
chr84095637340956547E074-15686
chr84095664640956823E074-15410
chr84095693340956983E074-15250
chr84095713640957193E074-15040
chr84095728840957389E074-14844
chr84095787740958229E074-14004
chr84095843640959066E074-13167
chr84095920640959298E074-12935
chr84095956740959617E074-12616
chr84096011640960263E074-11970
chr84096026440960595E074-11638
chr84100364241004576E07431409
chr84101479941014926E07442566
chr84101496541015191E07442732
chr84101520341015290E07442970
chr84101535141017103E07443118
chr84095637340956547E081-15686
chr84095664640956823E081-15410
chr84095693340956983E081-15250
chr84101883241019977E08146599
chr84093498740935164E082-37069
chr84093525540935870E082-36363
chr84093612640936318E082-35915
chr84093634140936403E082-35830
chr84093649640936624E082-35609
chr84093751340937563E082-34670
chr84101883241019977E08246599