rs12112329

Homo sapiens
T>C
LOC107986767 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0042 (1276/29988,GnomAD)
C=0037 (1092/29118,TOPMED)
C=0021 (103/5008,1000G)
C=0067 (259/3854,ALSPAC)
C=0066 (245/3708,TWINSUK)
chr7:10968838 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
54 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.10968838T>C
GRCh37.p13 chr 7NC_000007.13:g.11008465T>C

Gene: LOC107986767, uncharacterized LOC107986767(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC107986767 transcriptXR_001745091.1:n.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.998C=0.002
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.942C=0.058
1000GenomesGlobalStudy-wide5008T=0.979C=0.021
1000GenomesSouth AsianSub978T=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.933C=0.067
The Genome Aggregation DatabaseAfricanSub8736T=0.988C=0.012
The Genome Aggregation DatabaseAmericanSub838T=0.970C=0.030
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18490T=0.939C=0.060
The Genome Aggregation DatabaseGlobalStudy-wide29988T=0.957C=0.042
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.962C=0.037
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.934C=0.066
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs121123290.000903alcohol dependence21314694

eQTL of rs12112329 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 rs12112329 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 )
chr71097461710974817E067-33648
chr71097484110974892E067-33573
chr71097490610975041E067-33424
chr71097509310975207E067-33258
chr71097524510975363E067-33102
chr71097461710974817E068-33648
chr71097484110974892E068-33573
chr71097490610975041E068-33424
chr71097509310975207E068-33258
chr71097524510975363E068-33102
chr71097544610975496E068-32969
chr71097552210975572E068-32893
chr71097668810976728E068-31737
chr71105196711052050E06843502
chr71105211711052167E06843652
chr71097461710974817E069-33648
chr71097484110974892E069-33573
chr71097490610975041E069-33424
chr71097509310975207E069-33258
chr71097524510975363E069-33102
chr71097544610975496E069-32969
chr71097552210975572E069-32893
chr71101551011016022E0697045
chr71097814910978189E070-30276
chr71101551011016022E0707045
chr71097461710974817E071-33648
chr71097484110974892E071-33573
chr71097490610975041E071-33424
chr71097509310975207E071-33258
chr71097524510975363E071-33102
chr71097544610975496E071-32969
chr71097552210975572E071-32893
chr71097579810975876E071-32589
chr71097588710976017E071-32448
chr71097814910978189E071-30276
chr71097461710974817E072-33648
chr71097484110974892E072-33573
chr71097490610975041E072-33424
chr71097544610975496E072-32969
chr71097552210975572E072-32893
chr71105345211053563E07344987
chr71097490610975041E074-33424
chr71097509310975207E074-33258
chr71097524510975363E074-33102
chr71097544610975496E074-32969
chr71097552210975572E074-32893
chr71097579810975876E074-32589
chr71097588710976017E074-32448
chr71103938211039432E07430917
chr71105345211053563E07444987
chr71101510511015151E0816640
chr71101551011016022E0817045
chr71101510511015151E0826640
chr71101551011016022E0827045










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr71097852110978765E067-29700
chr71097884110981470E067-26995
chr71101226011014703E0673795
chr71097852110978765E068-29700
chr71097884110981470E068-26995
chr71101226011014703E0683795
chr71097852110978765E069-29700
chr71097884110981470E069-26995
chr71101226011014703E0693795
chr71097852110978765E070-29700
chr71097884110981470E070-26995
chr71101226011014703E0703795
chr71097852110978765E071-29700
chr71097884110981470E071-26995
chr71101226011014703E0713795
chr71097852110978765E072-29700
chr71097884110981470E072-26995
chr71101226011014703E0723795
chr71097852110978765E073-29700
chr71097884110981470E073-26995
chr71101226011014703E0733795
chr71097852110978765E074-29700
chr71097884110981470E074-26995
chr71101226011014703E0743795
chr71097852110978765E081-29700
chr71101226011014703E0813795
chr71097852110978765E082-29700
chr71097884110981470E082-26995
chr71101226011014703E0823795