rs2178771

Homo sapiens
T>G
CNTNAP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0198 (5945/29924,GnomAD)
G=0186 (5432/29118,TOPMED)
G=0195 (977/5008,1000G)
G=0291 (1120/3854,ALSPAC)
G=0303 (1124/3708,TWINSUK)
chr7:147966400 (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.147966400T>G
GRCh37.p13 chr 7NC_000007.13:g.147663492T>G
CNTNAP2 RefSeqGeneNG_007092.2:g.1855040T>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
1000GenomesAfricanSub1322T=0.967G=0.033
1000GenomesAmericanSub694T=0.780G=0.220
1000GenomesEast AsianSub1008T=0.834G=0.166
1000GenomesEuropeSub1006T=0.716G=0.284
1000GenomesGlobalStudy-wide5008T=0.805G=0.195
1000GenomesSouth AsianSub978T=0.670G=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.709G=0.291
The Genome Aggregation DatabaseAfricanSub8722T=0.933G=0.067
The Genome Aggregation DatabaseAmericanSub836T=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1600T=0.834G=0.166
The Genome Aggregation DatabaseEuropeSub18464T=0.738G=0.261
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.801G=0.198
The Genome Aggregation DatabaseOtherSub302T=0.640G=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.813G=0.186
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.697G=0.303
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
rs21787714.99E-05alcohol and nictotine co-dependence20158304

eQTL of rs2178771 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 rs2178771 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 )
chr7147638313147638353E068-25139
chr7147638535147638921E068-24571
chr7147638970147639125E068-24367
chr7147639185147639373E068-24119
chr7147638313147638353E069-25139
chr7147638535147638921E069-24571
chr7147638970147639125E069-24367
chr7147639185147639373E069-24119
chr7147638535147638921E070-24571
chr7147638970147639125E070-24367
chr7147639185147639373E070-24119
chr7147639378147639432E070-24060
chr7147641062147641171E070-22321
chr7147641205147641282E070-22210
chr7147641389147641902E070-21590
chr7147641941147642100E070-21392
chr7147638313147638353E071-25139
chr7147638313147638353E072-25139
chr7147638535147638921E072-24571
chr7147638970147639125E072-24367
chr7147639185147639373E072-24119
chr7147639378147639432E072-24060
chr7147638313147638353E073-25139
chr7147638535147638921E073-24571
chr7147638970147639125E073-24367
chr7147639185147639373E073-24119
chr7147638101147638151E074-25341
chr7147638313147638353E074-25139
chr7147638970147639125E074-24367
chr7147639185147639373E074-24119
chr7147639378147639432E074-24060
chr7147641389147641902E074-21590
chr7147641941147642100E074-21392
chr7147641389147641902E082-21590
chr7147641941147642100E082-21392