rs17245504

Homo sapiens
T>G
POU2F3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0118 (3550/29962,GnomAD)
G=0080 (2332/29118,TOPMED)
G=0135 (678/5008,1000G)
G=0130 (502/3854,ALSPAC)
G=0137 (508/3708,TWINSUK)
chr11:120308044 (GRCh38.p7) (11q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
114 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.120308044T>G
GRCh37.p13 chr 11NC_000011.9:g.120178753T>G
POU2F3 RefSeqGeneNG_030035.1:g.76405T>G

Gene: POU2F3, POU class 2 homeobox 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
POU2F3 transcript variant 2NM_001244682.1:c.N/AIntron Variant
POU2F3 transcript variant 1NM_014352.3:c.N/AIntron Variant
POU2F3 transcript variant X1XM_011542739.2:c.N/AIntron Variant
POU2F3 transcript variant X2XM_011542740.2:c.N/AIntron Variant
POU2F3 transcript variant X3XM_011542741.2:c.N/AIntron Variant
POU2F3 transcript variant X4XM_011542742.2:c.N/AIntron Variant
POU2F3 transcript variant X6XM_011542743.2:c.N/AIntron Variant
POU2F3 transcript variant X7XM_017017487.1:c.N/AIntron Variant
POU2F3 transcript variant X6XR_947818.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.979G=0.021
1000GenomesAmericanSub694T=0.850G=0.150
1000GenomesEast AsianSub1008T=0.782G=0.218
1000GenomesEuropeSub1006T=0.886G=0.114
1000GenomesGlobalStudy-wide5008T=0.865G=0.135
1000GenomesSouth AsianSub978T=0.780G=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.870G=0.130
The Genome Aggregation DatabaseAfricanSub8730T=0.963G=0.037
The Genome Aggregation DatabaseAmericanSub838T=0.780G=0.220
The Genome Aggregation DatabaseEast AsianSub1610T=0.788G=0.212
The Genome Aggregation DatabaseEuropeSub18482T=0.856G=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.881G=0.118
The Genome Aggregation DatabaseOtherSub302T=0.830G=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.919G=0.080
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.863G=0.137
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
rs172455041.3E-05nicotine smoking19268276

eQTL of rs17245504 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 rs17245504 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 )
chr11120187477120188459E0678724
chr11120188493120188583E0679740
chr11120198287120198388E06719534
chr11120199638120199813E06720885
chr11120212989120213379E06734236
chr11120214910120215005E06736157
chr11120215015120215718E06736262
chr11120216917120217360E06738164
chr11120217442120217557E06738689
chr11120217640120217796E06738887
chr11120217975120218419E06739222
chr11120187270120187403E0688517
chr11120187477120188459E0688724
chr11120188493120188583E0689740
chr11120198287120198388E06819534
chr11120199232120199339E06820479
chr11120199378120199502E06820625
chr11120211320120211792E06832567
chr11120212118120212233E06833365
chr11120212287120212333E06833534
chr11120214696120214818E06835943
chr11120214910120215005E06836157
chr11120215015120215718E06836262
chr11120215748120215815E06836995
chr11120216917120217360E06838164
chr11120217442120217557E06838689
chr11120217640120217796E06838887
chr11120217975120218419E06839222
chr11120218421120218545E06839668
chr11120218799120218864E06840046
chr11120218921120218982E06840168
chr11120219047120219133E06840294
chr11120219145120219189E06840392
chr11120187270120187403E0698517
chr11120187477120188459E0698724
chr11120211320120211792E06932567
chr11120215748120215815E06936995
chr11120215868120215950E06937115
chr11120217442120217557E06938689
chr11120217640120217796E06938887
chr11120217975120218419E06939222
chr11120218421120218545E06939668
chr11120132130120132329E070-46424
chr11120132448120132526E070-46227
chr11120132534120132604E070-46149
chr11120132624120132703E070-46050
chr11120132772120132880E070-45873
chr11120132947120132997E070-45756
chr11120198287120198388E07019534
chr11120217640120217796E07038887
chr11120217975120218419E07039222
chr11120187477120188459E0718724
chr11120199232120199339E07120479
chr11120199378120199502E07120625
chr11120199638120199813E07120885
chr11120204595120204807E07125842
chr11120204901120204979E07126148
chr11120205104120205275E07126351
chr11120205279120205370E07126526
chr11120205382120205426E07126629
chr11120213862120213906E07135109
chr11120214252120214542E07135499
chr11120214696120214818E07135943
chr11120214910120215005E07136157
chr11120215015120215718E07136262
chr11120215748120215815E07136995
chr11120215868120215950E07137115
chr11120216917120217360E07138164
chr11120217442120217557E07138689
chr11120217640120217796E07138887
chr11120187060120187223E0728307
chr11120187270120187403E0728517
chr11120187477120188459E0728724
chr11120188493120188583E0729740
chr11120198287120198388E07219534
chr11120199232120199339E07220479
chr11120199378120199502E07220625
chr11120199638120199813E07220885
chr11120211320120211792E07232567
chr11120215748120215815E07236995
chr11120215868120215950E07237115
chr11120216917120217360E07238164
chr11120187477120188459E0738724
chr11120198287120198388E07319534
chr11120199232120199339E07320479
chr11120199378120199502E07320625
chr11120199638120199813E07320885
chr11120214910120215005E07336157
chr11120215015120215718E07336262
chr11120216917120217360E07338164
chr11120187477120188459E0748724
chr11120198287120198388E07419534
chr11120198486120198547E07419733
chr11120199232120199339E07420479
chr11120199378120199502E07420625
chr11120205279120205370E07426526
chr11120214910120215005E07436157
chr11120215015120215718E07436262
chr11120215748120215815E07436995
chr11120215868120215950E07437115
chr11120216707120216757E07437954
chr11120216917120217360E07438164
chr11120198287120198388E08119534
chr11120199232120199339E08120479
chr11120199378120199502E08120625
chr11120199638120199813E08120885
chr11120216917120217360E08138164
chr11120217442120217557E08138689
chr11120217640120217796E08138887
chr11120217975120218419E08139222
chr11120177010120177088E082-1665
chr11120178035120178102E082-651
chr11120187477120188459E0828724
chr11120198287120198388E08219534










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11120205601120209660E06726848
chr11120209798120209887E06731045
chr11120195442120198223E06816689
chr11120205601120209660E06826848
chr11120209798120209887E06831045
chr11120195442120198223E06916689
chr11120205601120209660E06926848
chr11120209798120209887E06931045
chr11120205601120209660E07026848
chr11120209798120209887E07031045
chr11120195442120198223E07116689
chr11120205601120209660E07126848
chr11120209798120209887E07131045
chr11120195442120198223E07216689
chr11120205601120209660E07226848
chr11120209798120209887E07231045
chr11120195442120198223E07316689
chr11120205601120209660E07326848
chr11120209798120209887E07331045
chr11120195442120198223E07416689
chr11120205601120209660E07426848
chr11120205601120209660E08126848
chr11120195442120198223E08216689
chr11120205601120209660E08226848
chr11120209798120209887E08231045