rs2707592

Homo sapiens
A>G
CNTNAP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0341 (10202/29890,GnomAD)
A==0409 (11924/29118,TOPMED)
A==0343 (1720/5008,1000G)
A==0159 (611/3854,ALSPAC)
A==0158 (585/3708,TWINSUK)
chr7:147963361 (GRCh38.p7) (7q35)
ND
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.147963361A>G
GRCh37.p13 chr 7NC_000007.13:g.147660453A>G
CNTNAP2 RefSeqGeneNG_007092.2:g.1852001A>G

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
1000GenomesAfricanSub1322A=0.753G=0.247
1000GenomesAmericanSub694A=0.230G=0.770
1000GenomesEast AsianSub1008A=0.261G=0.739
1000GenomesEuropeSub1006A=0.193G=0.807
1000GenomesGlobalStudy-wide5008A=0.343G=0.657
1000GenomesSouth AsianSub978A=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.159G=0.841
The Genome Aggregation DatabaseAfricanSub8708A=0.697G=0.303
The Genome Aggregation DatabaseAmericanSub834A=0.210G=0.790
The Genome Aggregation DatabaseEast AsianSub1598A=0.265G=0.735
The Genome Aggregation DatabaseEuropeSub18448A=0.187G=0.812
The Genome Aggregation DatabaseGlobalStudy-wide29890A=0.341G=0.658
The Genome Aggregation DatabaseOtherSub302A=0.240G=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.409G=0.590
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.158G=0.842
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
rs27075920.000111alcohol and nictotine co-dependence20158304

eQTL of rs2707592 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 rs2707592 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 )
chr7147638313147638353E068-22100
chr7147638535147638921E068-21532
chr7147638970147639125E068-21328
chr7147639185147639373E068-21080
chr7147638313147638353E069-22100
chr7147638535147638921E069-21532
chr7147638970147639125E069-21328
chr7147639185147639373E069-21080
chr7147638535147638921E070-21532
chr7147638970147639125E070-21328
chr7147639185147639373E070-21080
chr7147639378147639432E070-21021
chr7147641062147641171E070-19282
chr7147641205147641282E070-19171
chr7147641389147641902E070-18551
chr7147641941147642100E070-18353
chr7147638313147638353E071-22100
chr7147638313147638353E072-22100
chr7147638535147638921E072-21532
chr7147638970147639125E072-21328
chr7147639185147639373E072-21080
chr7147639378147639432E072-21021
chr7147638313147638353E073-22100
chr7147638535147638921E073-21532
chr7147638970147639125E073-21328
chr7147639185147639373E073-21080
chr7147638101147638151E074-22302
chr7147638313147638353E074-22100
chr7147638970147639125E074-21328
chr7147639185147639373E074-21080
chr7147639378147639432E074-21021
chr7147641389147641902E074-18551
chr7147641941147642100E074-18353
chr7147641389147641902E082-18551
chr7147641941147642100E082-18353