rs4976489

Homo sapiens
C>T
TRPC7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0326 (9760/29904,GnomAD)
C==0277 (8068/29118,TOPMED)
C==0318 (1592/5008,1000G)
C==0365 (1405/3854,ALSPAC)
C==0357 (1325/3708,TWINSUK)
chr5:136343269 (GRCh38.p7) (5q31.1)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.136343269C>T
GRCh37.p13 chr 5NC_000005.9:g.135678957C>T

Gene: TRPC7, transient receptor potential cation channel subfamily C member 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TRPC7 transcript variant 3NM_001167576.1:c.N/AIntron Variant
TRPC7 transcript variant 2NM_001167577.1:c.N/AIntron Variant
TRPC7 transcript variant 1NM_020389.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.216T=0.784
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.290T=0.710
1000GenomesEuropeSub1006C=0.343T=0.657
1000GenomesGlobalStudy-wide5008C=0.318T=0.682
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.365T=0.635
The Genome Aggregation DatabaseAfricanSub8706C=0.231T=0.769
The Genome Aggregation DatabaseAmericanSub836C=0.260T=0.740
The Genome Aggregation DatabaseEast AsianSub1614C=0.296T=0.704
The Genome Aggregation DatabaseEuropeSub18446C=0.378T=0.622
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.326T=0.673
The Genome Aggregation DatabaseOtherSub302C=0.250T=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.277T=0.722
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.357T=0.643
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs49764890.000109nicotine dependence17158188

eQTL of rs4976489 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 rs4976489 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 )
chr5135643688135644372E081-34585

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5135700942135701290E06821985
chr5135700942135701290E07321985
chr5135700942135701290E08221985