rs677213

Homo sapiens
C>T
IMPACT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0131 (3938/29950,GnomAD)
T=0100 (2914/29118,TOPMED)
T=0085 (427/5008,1000G)
T=0147 (567/3854,ALSPAC)
T=0147 (545/3708,TWINSUK)
chr18:24447024 (GRCh38.p7) (18q11.2)
ND
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.24447024C>T
GRCh37.p13 chr 18NC_000018.9:g.22026988C>T

Gene: IMPACT, impact RWD domain protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
IMPACT transcriptNM_018439.3:c.N/AIntron Variant
IMPACT transcript variant X1XM_017025832.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.964T=0.036
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.981T=0.019
1000GenomesEuropeSub1006C=0.868T=0.132
1000GenomesGlobalStudy-wide5008C=0.915T=0.085
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.853T=0.147
The Genome Aggregation DatabaseAfricanSub8730C=0.938T=0.062
The Genome Aggregation DatabaseAmericanSub836C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1620C=0.986T=0.014
The Genome Aggregation DatabaseEuropeSub18464C=0.826T=0.173
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.868T=0.131
The Genome Aggregation DatabaseOtherSub300C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.899T=0.100
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.853T=0.147
PMID Title Author Journal
17407593Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs.Uhl GRBMC Genet

P-Value

SNP ID p-value Traits Study
rs6772130.0007nicotine dependence17407593

eQTL of rs677213 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 rs677213 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 )
chr182200795422008004E067-18984
chr182198032121980410E068-46578
chr182198049621980863E068-46125
chr182200832222008402E068-18586
chr182206767122068135E07340683
chr182206814022068320E07341152
chr182200795422008004E074-18984
chr182206767122068135E07440683
chr182206814022068320E07441152
chr182206871222069357E07441724
chr182200795422008004E081-18984
chr182206767122068135E08140683
chr182206814022068320E08141152
chr182200795422008004E082-18984






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr182200595922007809E067-19179
chr182200595922007809E068-19179
chr182200585722005927E069-21061
chr182200595922007809E069-19179
chr182200595922007809E070-19179
chr182200595922007809E071-19179
chr182200595922007809E072-19179
chr182200595922007809E073-19179
chr182200595922007809E074-19179
chr182200595922007809E081-19179
chr182200595922007809E082-19179