rs11771941

Homo sapiens
G>A
CNTNAP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0351 (10524/29926,GnomAD)
A=0335 (9772/29118,TOPMED)
A=0296 (1482/5008,1000G)
A=0499 (1922/3854,ALSPAC)
G==0496 (1839/3708,TWINSUK)
chr7:147982443 (GRCh38.p7) (7q35)
ND
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.147982443G>A
GRCh37.p13 chr 7NC_000007.13:g.147679535G>A
CNTNAP2 RefSeqGeneNG_007092.2:g.1871083G>A

Gene: CNTNAP2, contactin associated protein-like 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CNTNAP2 transcriptNM_014141.5:c.N/AIntron Variant
CNTNAP2 transcript variant X1XM_017011950.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.897A=0.103
1000GenomesAmericanSub694G=0.680A=0.320
1000GenomesEast AsianSub1008G=0.843A=0.157
1000GenomesEuropeSub1006G=0.530A=0.470
1000GenomesGlobalStudy-wide5008G=0.704A=0.296
1000GenomesSouth AsianSub978G=0.500A=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.501A=0.499
The Genome Aggregation DatabaseAfricanSub8716G=0.856A=0.144
The Genome Aggregation DatabaseAmericanSub836G=0.710A=0.290
The Genome Aggregation DatabaseEast AsianSub1616G=0.842A=0.158
The Genome Aggregation DatabaseEuropeSub18456G=0.534A=0.465
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.648A=0.351
The Genome Aggregation DatabaseOtherSub302G=0.410A=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.664A=0.335
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.496A=0.504
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs117719414.87E-05alcohol and nictotine co-dependence20158304

eQTL of rs11771941 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 rs11771941 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 )
chr7147638313147638353E068-41182
chr7147638535147638921E068-40614
chr7147638970147639125E068-40410
chr7147639185147639373E068-40162
chr7147638313147638353E069-41182
chr7147638535147638921E069-40614
chr7147638970147639125E069-40410
chr7147639185147639373E069-40162
chr7147638535147638921E070-40614
chr7147638970147639125E070-40410
chr7147639185147639373E070-40162
chr7147639378147639432E070-40103
chr7147641062147641171E070-38364
chr7147641205147641282E070-38253
chr7147641389147641902E070-37633
chr7147641941147642100E070-37435
chr7147720554147720682E07041019
chr7147638313147638353E071-41182
chr7147638313147638353E072-41182
chr7147638535147638921E072-40614
chr7147638970147639125E072-40410
chr7147639185147639373E072-40162
chr7147639378147639432E072-40103
chr7147638313147638353E073-41182
chr7147638535147638921E073-40614
chr7147638970147639125E073-40410
chr7147639185147639373E073-40162
chr7147638101147638151E074-41384
chr7147638313147638353E074-41182
chr7147638970147639125E074-40410
chr7147639185147639373E074-40162
chr7147639378147639432E074-40103
chr7147641389147641902E074-37633
chr7147641941147642100E074-37435
chr7147641389147641902E082-37633
chr7147641941147642100E082-37435