rs3949478

Homo sapiens
A>G
ENTPD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0272 (8145/29942,GnomAD)
A==0291 (8472/29118,TOPMED)
A==0308 (1540/5008,1000G)
A==0207 (796/3854,ALSPAC)
A==0213 (789/3708,TWINSUK)
chr10:95713457 (GRCh38.p7) (10q24.1)
ND
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.95713457A>G
GRCh37.p13 chr 10NC_000010.10:g.97473214A>G
ENTPD1 RefSeqGeneNG_042803.1:g.6679A>G

Gene: ENTPD1, ectonucleoside triphosphate diphosphohydrolase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ENTPD1 transcript variant 2NM_001098175.1:c.N/AIntron Variant
ENTPD1 transcript variant 3NM_001164178.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 4NM_001164179.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 5NM_001164181.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 6NM_001164182.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 7NM_001164183.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 8NM_001312654.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 9NM_001320916.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant 1NM_001776.5:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X2XM_011540371.2:c.N/AIntron Variant
ENTPD1 transcript variant X1XM_011540370.2:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X3XM_011540372.2:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X4XM_011540373.2:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X6XM_011540374.2:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X7XM_011540376.2:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X8XM_011540377.2:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X5XM_017016958.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X9XM_017016959.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X10XM_017016960.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X11XM_017016961.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X12XM_017016962.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X13XM_017016963.1:c.N/AGenic Upstream Transcript Variant
ENTPD1 transcript variant X14XM_017016964.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.431G=0.569
1000GenomesAmericanSub694A=0.220G=0.780
1000GenomesEast AsianSub1008A=0.219G=0.781
1000GenomesEuropeSub1006A=0.220G=0.780
1000GenomesGlobalStudy-wide5008A=0.308G=0.692
1000GenomesSouth AsianSub978A=0.380G=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.207G=0.793
The Genome Aggregation DatabaseAfricanSub8712A=0.414G=0.586
The Genome Aggregation DatabaseAmericanSub838A=0.240G=0.760
The Genome Aggregation DatabaseEast AsianSub1618A=0.192G=0.808
The Genome Aggregation DatabaseEuropeSub18472A=0.214G=0.785
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.272G=0.728
The Genome Aggregation DatabaseOtherSub302A=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.291G=0.709
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.213G=0.787
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs39494783.2E-05nicotine smoking19268276

eQTL of rs3949478 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 rs3949478 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 )
chr109745170897451861E068-21353
chr109745240897452448E068-20766
chr109750138397501472E06828169
chr109750149897502586E06828284
chr109752148997521567E06948275
chr109745080497450854E070-22360
chr109745170897451861E070-21353
chr109745240897452448E070-20766
chr109745170897451861E071-21353
chr109745240897452448E071-20766
chr109751842597518805E07145211
chr109752139397521443E07148179
chr109752148997521567E07148275
chr109752163797521732E07148423
chr109751931197519424E07346097
chr109751953497519648E07346320
chr109752120397521321E07347989
chr109752139397521443E07348179
chr109745240897452448E074-20766
chr109751842597518805E07445211
chr109751884797518897E07445633
chr109751916997519263E07445955
chr109751931197519424E07446097
chr109752120397521321E07447989
chr109752139397521443E07448179
chr109752148997521567E07448275
chr109752163797521732E07448423
chr109745170897451861E081-21353
chr109745240897452448E081-20766
chr109745170897451861E082-21353
chr109745240897452448E082-20766








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr109745280797454638E067-18576
chr109751503197516872E06741817
chr109745280797454638E068-18576
chr109751503197516872E06841817
chr109751687897517463E06843664
chr109745280797454638E069-18576
chr109751503197516872E06941817
chr109751687897517463E06943664
chr109745280797454638E070-18576
chr109751503197516872E07041817
chr109745280797454638E071-18576
chr109751503197516872E07141817
chr109751687897517463E07143664
chr109745280797454638E072-18576
chr109751503197516872E07241817
chr109751687897517463E07243664
chr109745280797454638E073-18576
chr109751503197516872E07341817
chr109745280797454638E074-18576
chr109751503197516872E07441817
chr109751687897517463E07443664
chr109745280797454638E081-18576
chr109745280797454638E082-18576
chr109751503197516872E08241817