rs11032702

Homo sapiens
C>T
CAT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0114 (3444/29962,GnomAD)
T=0160 (4679/29118,TOPMED)
T=0115 (576/5008,1000G)
T=0040 (155/3854,ALSPAC)
T=0040 (149/3708,TWINSUK)
chr11:34446576 (GRCh38.p7) (11p13)
AD
GWASdb2
2   publication(s)
See rs on genome
20 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34446576C>T
GRCh37.p13 chr 11NC_000011.9:g.34468123C>T
CAT RefSeqGeneNG_013339.1:g.12652C>T

Gene: CAT, catalase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CAT transcriptNM_001752.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.644T=0.356
1000GenomesAmericanSub694C=0.940T=0.060
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.955T=0.045
1000GenomesGlobalStudy-wide5008C=0.885T=0.115
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.960T=0.040
The Genome Aggregation DatabaseAfricanSub8706C=0.704T=0.296
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18496C=0.956T=0.043
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.885T=0.114
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.839T=0.160
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.960T=0.040
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs110327020.0000695alcohol dependence21703634
rs110327020.00052alcohol dependence20201924

eQTL of rs11032702 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 rs11032702 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 )
chr113451427234514678E06746149
chr113446431934464369E068-3754
chr113447611334476163E0687990
chr113447632034476483E0688197
chr113447658534477021E0688462
chr113442882134429256E069-38867
chr113442933034429448E069-38675
chr113446979334469875E0691670
chr113446994634470013E0691823
chr113451427234514678E06946149
chr113442933034429448E071-38675
chr113451427234514678E07146149
chr113451482334514901E07146700
chr113451497934515029E07146856
chr113442882134429256E072-38867
chr113442933034429448E072-38675
chr113446431934464369E073-3754
chr113442882134429256E074-38867
chr113442933034429448E074-38675
chr113446252734462567E082-5556








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr113445971234461758E067-6365
chr113445957034459620E068-8503
chr113445971234461758E068-6365
chr113445957034459620E069-8503
chr113445971234461758E069-6365
chr113445957034459620E070-8503
chr113445971234461758E070-6365
chr113445971234461758E071-6365
chr113445957034459620E072-8503
chr113445971234461758E072-6365
chr113445957034459620E073-8503
chr113445971234461758E073-6365
chr113445971234461758E074-6365
chr113445971234461758E081-6365
chr113445957034459620E082-8503
chr113445971234461758E082-6365