rs11603757

Homo sapiens
G>T
POU2F3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0156 (4681/29946,GnomAD)
T=0206 (6009/29118,TOPMED)
T=0152 (759/5008,1000G)
T=0071 (272/3854,ALSPAC)
T=0080 (297/3708,TWINSUK)
chr11:120293949 (GRCh38.p7) (11q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
80 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.120293949G>T
GRCh37.p13 chr 11NC_000011.9:g.120164658G>T
POU2F3 RefSeqGeneNG_030035.1:g.62310G>T

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
1000GenomesAfricanSub1322G=0.557T=0.443
1000GenomesAmericanSub694G=0.890T=0.110
1000GenomesEast AsianSub1008G=0.999T=0.001
1000GenomesEuropeSub1006G=0.913T=0.087
1000GenomesGlobalStudy-wide5008G=0.848T=0.152
1000GenomesSouth AsianSub978G=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.929T=0.071
The Genome Aggregation DatabaseAfricanSub8708G=0.634T=0.366
The Genome Aggregation DatabaseAmericanSub838G=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1622G=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18476G=0.922T=0.077
The Genome Aggregation DatabaseGlobalStudy-wide29946G=0.843T=0.156
The Genome Aggregation DatabaseOtherSub302G=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.793T=0.206
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.920T=0.080
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
rs116037570.000524nicotine smoking19268276

eQTL of rs11603757 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 rs11603757 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 )
chr11120187477120188459E06722819
chr11120188493120188583E06723835
chr11120198287120198388E06733629
chr11120199638120199813E06734980
chr11120212989120213379E06748331
chr11120187270120187403E06822612
chr11120187477120188459E06822819
chr11120188493120188583E06823835
chr11120198287120198388E06833629
chr11120199232120199339E06834574
chr11120199378120199502E06834720
chr11120211320120211792E06846662
chr11120212118120212233E06847460
chr11120212287120212333E06847629
chr11120187270120187403E06922612
chr11120187477120188459E06922819
chr11120211320120211792E06946662
chr11120124956120125018E070-39640
chr11120125198120125386E070-39272
chr11120126811120126957E070-37701
chr11120132130120132329E070-32329
chr11120132448120132526E070-32132
chr11120132534120132604E070-32054
chr11120132624120132703E070-31955
chr11120132772120132880E070-31778
chr11120132947120132997E070-31661
chr11120198287120198388E07033629
chr11120187477120188459E07122819
chr11120199232120199339E07134574
chr11120199378120199502E07134720
chr11120199638120199813E07134980
chr11120204595120204807E07139937
chr11120204901120204979E07140243
chr11120205104120205275E07140446
chr11120205279120205370E07140621
chr11120205382120205426E07140724
chr11120213862120213906E07149204
chr11120214252120214542E07149594
chr11120187060120187223E07222402
chr11120187270120187403E07222612
chr11120187477120188459E07222819
chr11120188493120188583E07223835
chr11120198287120198388E07233629
chr11120199232120199339E07234574
chr11120199378120199502E07234720
chr11120199638120199813E07234980
chr11120211320120211792E07246662
chr11120187477120188459E07322819
chr11120198287120198388E07333629
chr11120199232120199339E07334574
chr11120199378120199502E07334720
chr11120199638120199813E07334980
chr11120187477120188459E07422819
chr11120198287120198388E07433629
chr11120198486120198547E07433828
chr11120199232120199339E07434574
chr11120199378120199502E07434720
chr11120205279120205370E07440621
chr11120116020120116216E081-48442
chr11120116316120116624E081-48034
chr11120116928120117067E081-47591
chr11120120645120120876E081-43782
chr11120120941120121116E081-43542
chr11120121965120122013E081-42645
chr11120122130120122188E081-42470
chr11120122370120122492E081-42166
chr11120123220120123630E081-41028
chr11120123783120123949E081-40709
chr11120125198120125386E081-39272
chr11120126811120126957E081-37701
chr11120126988120127511E081-37147
chr11120198287120198388E08133629
chr11120199232120199339E08134574
chr11120199378120199502E08134720
chr11120199638120199813E08134980
chr11120116928120117067E082-47591
chr11120177010120177088E08212352
chr11120178035120178102E08213377
chr11120187477120188459E08222819
chr11120198287120198388E08233629










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11120205601120209660E06740943
chr11120209798120209887E06745140
chr11120195442120198223E06830784
chr11120205601120209660E06840943
chr11120209798120209887E06845140
chr11120195442120198223E06930784
chr11120205601120209660E06940943
chr11120209798120209887E06945140
chr11120205601120209660E07040943
chr11120209798120209887E07045140
chr11120195442120198223E07130784
chr11120205601120209660E07140943
chr11120209798120209887E07145140
chr11120195442120198223E07230784
chr11120205601120209660E07240943
chr11120209798120209887E07245140
chr11120195442120198223E07330784
chr11120205601120209660E07340943
chr11120209798120209887E07345140
chr11120195442120198223E07430784
chr11120205601120209660E07440943
chr11120205601120209660E08140943
chr11120195442120198223E08230784
chr11120205601120209660E08240943
chr11120209798120209887E08245140