rs6971850

Homo sapiens
A>C
CNPY1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0347 (10408/29936,GnomAD)
A==0338 (9850/29118,TOPMED)
A==0373 (1867/5008,1000G)
A==0385 (1482/3854,ALSPAC)
A==0379 (1407/3708,TWINSUK)
chr7:155511477 (GRCh38.p7) (7q36.3)
ND
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.155511477A>C
GRCh37.p13 chr 7NC_000007.13:g.155304172A>C

Gene: CNPY1, canopy FGF signaling regulator 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CNPY1 transcriptNM_001103176.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.272C=0.728
1000GenomesAmericanSub694A=0.300C=0.700
1000GenomesEast AsianSub1008A=0.449C=0.551
1000GenomesEuropeSub1006A=0.394C=0.606
1000GenomesGlobalStudy-wide5008A=0.373C=0.627
1000GenomesSouth AsianSub978A=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.385C=0.615
The Genome Aggregation DatabaseAfricanSub8716A=0.290C=0.710
The Genome Aggregation DatabaseAmericanSub836A=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1610A=0.487C=0.513
The Genome Aggregation DatabaseEuropeSub18474A=0.365C=0.634
The Genome Aggregation DatabaseGlobalStudy-wide29936A=0.347C=0.652
The Genome Aggregation DatabaseOtherSub300A=0.430C=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.338C=0.661
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.379C=0.621
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
rs69718501.15E-05alcohol and nictotine co-dependence20158304

eQTL of rs6971850 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 rs6971850 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 )
chr7155276397155276515E067-27657
chr7155276565155277081E067-27091
chr7155263120155263170E070-41002
chr7155275978155276024E070-28148
chr7155276062155276326E070-27846
chr7155276397155276515E070-27657
chr7155335054155335108E07030882
chr7155335163155335215E07030991
chr7155335326155335376E07031154
chr7155335913155336477E07031741
chr7155336578155336660E07032406
chr7155276565155277081E071-27091
chr7155314800155314850E08110628
chr7155315467155315961E08111295
chr7155316041155316082E08111869
chr7155347910155348351E08143738
chr7155348392155348442E08144220




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7155325547155326842E06721375
chr7155283071155284614E068-19558
chr7155325547155326842E06921375
chr7155283071155284614E071-19558
chr7155283071155284614E072-19558
chr7155283071155284614E073-19558
chr7155283071155284614E074-19558
chr7155325547155326842E07421375
chr7155302445155303458E082-714