rs17483548

Homo sapiens
G>A
IREB2 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0229 (6871/29936,GnomAD)
A=0205 (5993/29118,TOPMED)
A=0154 (771/5008,1000G)
A=0319 (1228/3854,ALSPAC)
A=0325 (1206/3708,TWINSUK)
chr15:78437971 (GRCh38.p7) (15q25.1)
ND
GWASdb2
7   publication(s)
See rs on genome
168 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.78437971G>A
GRCh37.p13 chr 15NC_000015.9:g.78730313G>A

Gene: IREB2, iron responsive element binding protein 2(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
IREB2 transcript variant 2NM_001320941.1:c.N/AUpstream Transcript Variant
IREB2 transcript variant 3NM_001320942.1:c.N/AUpstream Transcript Variant
IREB2 transcript variant 4NM_001320943.1:c.N/AUpstream Transcript Variant
IREB2 transcript variant 1NM_004136.3:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.975A=0.025
1000GenomesAmericanSub694G=0.800A=0.200
1000GenomesEast AsianSub1008G=0.959A=0.041
1000GenomesEuropeSub1006G=0.630A=0.370
1000GenomesGlobalStudy-wide5008G=0.846A=0.154
1000GenomesSouth AsianSub978G=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.681A=0.319
The Genome Aggregation DatabaseAfricanSub8728G=0.941A=0.059
The Genome Aggregation DatabaseAmericanSub836G=0.810A=0.190
The Genome Aggregation DatabaseEast AsianSub1622G=0.964A=0.036
The Genome Aggregation DatabaseEuropeSub18448G=0.673A=0.326
The Genome Aggregation DatabaseGlobalStudy-wide29936G=0.770A=0.229
The Genome Aggregation DatabaseOtherSub302G=0.650A=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.794A=0.205
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.675A=0.325
PMID Title Author Journal
18759969In search of causal variants: refining disease association signals using cross-population contrasts.Saccone NLBMC Genet
21079997Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence.Culverhouse RCHum Genet
20624154Incorporating age at onset of smoking into genetic models for nicotine dependence: evidence for interaction with multiple genes.Grucza RAAddict Biol
22331484Genetic polymorphism of the iron-regulatory protein-1 and -2 genes in age-related macular degeneration.Synowiec EMol Biol Rep
19706762The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.Saccone NLCancer Res
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet
19259974Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.Saccone NLAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs174835480.000655nicotine dependence17158188

eQTL of rs17483548 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:78730313CHRNA5ENSG00000169684.9G>A1.6230e-20-127549Cortex
Chr15:78730313CHRNA5ENSG00000169684.9G>A1.5335e-14-127549Caudate_basal_ganglia
Chr15:78730313CHRNA5ENSG00000169684.9G>A5.1270e-15-127549Nucleus_accumbens_basal_ganglia

meQTL of rs17483548 in Fetal Brain

Probe ID Position Gene beta p-value
cg18825076chr15:78729989IREB2-0.05137181685582541.7240e-14

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 )
chr157868922178689729E067-40584
chr157868973078690041E067-40272
chr157873260878732662E0672295
chr157873287278732941E0672559
chr157873302378733063E0672710
chr157873473378734808E0674420
chr157873502878735095E0674715
chr157873880078739029E0678487
chr157874088378741019E06710570
chr157874107578741213E06710762
chr157874129678741452E06710983
chr157874145978742143E06711146
chr157874283278742886E06712519
chr157875325078753316E06722937
chr157875338678753499E06723073
chr157875365178754193E06723338
chr157873287278732941E0682559
chr157873302378733063E0682710
chr157873314078733211E0682827
chr157873331978733359E0683006
chr157873802578738079E0687712
chr157873824278738288E0687929
chr157873880078739029E0688487
chr157873907478739656E0688761
chr157874145978742143E06811146
chr157874767078747715E06817357
chr157874795578748743E06817642
chr157874879278748949E06818479
chr157874903778749219E06818724
chr157874923678749335E06818923
chr157874937678750057E06819063
chr157875325078753316E06822937
chr157875338678753499E06823073
chr157875365178754193E06823338
chr157869139978691892E069-38421
chr157870693678707237E069-23076
chr157870733478707550E069-22763
chr157873473378734808E0694420
chr157873802578738079E0697712
chr157873824278738288E0697929
chr157873880078739029E0698487
chr157873907478739656E0698761
chr157874088378741019E06910570
chr157874107578741213E06910762
chr157874129678741452E06910983
chr157874145978742143E06911146
chr157874710878747285E06916795
chr157874740878747597E06917095
chr157874767078747715E06917357
chr157874795578748743E06917642
chr157874923678749335E06918923
chr157874937678750057E06919063
chr157868490378685067E070-45246
chr157870693678707237E070-23076
chr157870733478707550E070-22763
chr157873260878732662E0702295
chr157873287278732941E0702559
chr157873302378733063E0702710
chr157873314078733211E0702827
chr157873331978733359E0703006
chr157873365278733702E0703339
chr157873433778734436E0704024
chr157873502878735095E0704715
chr157872190878722207E071-8106
chr157873260878732662E0712295
chr157873287278732941E0712559
chr157873302378733063E0712710
chr157873314078733211E0712827
chr157873331978733359E0713006
chr157873502878735095E0714715
chr157873880078739029E0718487
chr157873907478739656E0718761
chr157874022178740313E0719908
chr157874039878740468E07110085
chr157874050478740599E07110191
chr157874088378741019E07110570
chr157874107578741213E07110762
chr157874129678741452E07110983
chr157874710878747285E07116795
chr157874740878747597E07117095
chr157874767078747715E07117357
chr157874795578748743E07117642
chr157874879278748949E07118479
chr157874903778749219E07118724
chr157874923678749335E07118923
chr157874937678750057E07119063
chr157875325078753316E07122937
chr157875338678753499E07123073
chr157875365178754193E07123338
chr157870693678707237E072-23076
chr157870733478707550E072-22763
chr157873302378733063E0722710
chr157873314078733211E0722827
chr157873331978733359E0723006
chr157873365278733702E0723339
chr157873880078739029E0728487
chr157874015278740206E0729839
chr157874022178740313E0729908
chr157874039878740468E07210085
chr157874050478740599E07210191
chr157874088378741019E07210570
chr157874107578741213E07210762
chr157874129678741452E07210983
chr157874740878747597E07217095
chr157874767078747715E07217357
chr157874795578748743E07217642
chr157874879278748949E07218479
chr157874903778749219E07218724
chr157874923678749335E07218923
chr157874937678750057E07219063
chr157875039478750444E07220081
chr157875081078750866E07220497
chr157873302378733063E0732710
chr157873314078733211E0732827
chr157873331978733359E0733006
chr157873995878740087E0739645
chr157874015278740206E0739839
chr157874022178740313E0739908
chr157874039878740468E07310085
chr157874767078747715E07317357
chr157874795578748743E07317642
chr157869025578690295E074-40018
chr157869054878690630E074-39683
chr157869139978691892E074-38421
chr157873880078739029E0748487
chr157873907478739656E0748761
chr157873995878740087E0749645
chr157874015278740206E0749839
chr157874022178740313E0749908
chr157874039878740468E07410085
chr157874050478740599E07410191
chr157874088378741019E07410570
chr157874107578741213E07410762
chr157874129678741452E07410983
chr157874145978742143E07411146
chr157874283278742886E07412519
chr157874740878747597E07417095
chr157874767078747715E07417357
chr157874795578748743E07417642
chr157874879278748949E07418479
chr157874903778749219E07418724
chr157874923678749335E07418923
chr157874937678750057E07419063
chr157875365178754193E07423338
chr157873302378733063E0812710
chr157873314078733211E0812827
chr157873331978733359E0813006
chr157873365278733702E0813339
chr157873382578733875E0813512
chr157874710878747285E08116795
chr157874740878747597E08117095
chr157874767078747715E08117357
chr157874795578748743E08117642
chr157874879278748949E08118479
chr157873260878732662E0822295
chr157873287278732941E0822559
chr157873302378733063E0822710
chr157873314078733211E0822827
chr157873331978733359E0823006
chr157873365278733702E0823339
chr157873433778734436E0824024
chr157873473378734808E0824420
chr157873502878735095E0824715
chr157874795578748743E08217642
chr157874879278748949E08218479
chr157874903778749219E08218724
chr157874923678749335E08218923
chr157874937678750057E08219063










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr157872963878731645E0670
chr157872963878731645E0680
chr157872963878731645E0690
chr157872963878731645E0700
chr157872963878731645E0710
chr157872963878731645E0720
chr157872963878731645E0730
chr157872963878731645E0740
chr157872963878731645E0810
chr157872963878731645E0820