rs2279591

Homo sapiens
C>T
EPHX2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0308 (9230/29912,GnomAD)
T=0254 (7421/29118,TOPMED)
T=0399 (1999/5008,1000G)
T=0273 (1052/3854,ALSPAC)
T=0254 (942/3708,TWINSUK)
chr8:27596246 (GRCh38.p7) (8p21.1)
ND
GWASdb2
3   publication(s)
See rs on genome
243 Enhancers around
31 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.27596246C>T
GRCh37.p13 chr 8NC_000008.10:g.27453763C>T
CLU RefSeqGeneNG_027845.1:g.23565G>A

Gene: EPHX2, epoxide hydrolase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EPHX2 transcript variant 2NM_001256482.1:c.N/AGenic Downstream Transcript Variant
EPHX2 transcript variant 3NM_001256483.1:c.N/AGenic Downstream Transcript Variant
EPHX2 transcript variant 4NM_001256484.1:c.N/AGenic Downstream Transcript Variant
EPHX2 transcript variant 1NM_001979.5:c.N/AGenic Downstream Transcript Variant
EPHX2 transcript variant X2XM_017013199.1:c.N/AGenic Downstream Transcript Variant
EPHX2 transcript variant X3XM_017013200.1:c.N/AGenic Downstream Transcript Variant
EPHX2 transcript variant X1XR_001745491.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.834T=0.166
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.274T=0.726
1000GenomesEuropeSub1006C=0.720T=0.280
1000GenomesGlobalStudy-wide5008C=0.601T=0.399
1000GenomesSouth AsianSub978C=0.460T=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.727T=0.273
The Genome Aggregation DatabaseAfricanSub8712C=0.796T=0.204
The Genome Aggregation DatabaseAmericanSub836C=0.640T=0.360
The Genome Aggregation DatabaseEast AsianSub1616C=0.303T=0.697
The Genome Aggregation DatabaseEuropeSub18446C=0.677T=0.322
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.691T=0.308
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.745T=0.254
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.746T=0.254
PMID Title Author Journal
18806885Genetic analysis of the clusterin gene in pseudoexfoliation syndrome.Burdon KPMol Vis
20850846Association of the clusterin gene polymorphisms with type 2 diabetes mellitus.Daimon MMetabolism
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs22795910.000164nicotine smoking19268276

eQTL of rs2279591 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 rs2279591 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 )
chr82745459127455107E067828
chr82746057727461270E0676814
chr82746133327461522E0677570
chr82746546827465629E06711705
chr82746563527465729E06711872
chr82746575927466832E06711996
chr82746690327467085E06713140
chr82746720727467275E06713444
chr82746729227467342E06713529
chr82746740727467457E06713644
chr82747418127475182E06720418
chr82749505227495192E06741289
chr82749525327495303E06741490
chr82749693327497040E06743170
chr82749709227497161E06743329
chr82749718327497392E06743420
chr82749754427497584E06743781
chr82746002227460220E0686259
chr82746057727461270E0686814
chr82746133327461522E0687570
chr82746153927461608E0687776
chr82746546827465629E06811705
chr82746563527465729E06811872
chr82746690327467085E06813140
chr82747418127475182E06820418
chr82749340227493647E06839639
chr82749365727493925E06839894
chr82749486627494936E06841103
chr82749505227495192E06841289
chr82740440027404728E069-49035
chr82745729827457387E0693535
chr82745739127457463E0693628
chr82746057727461270E0696814
chr82746133327461522E0697570
chr82746153927461608E0697776
chr82746163327461813E0697870
chr82746187027461930E0698107
chr82746242227462472E0698659
chr82746251227462572E0698749
chr82746289627462981E0699133
chr82746361827463770E0699855
chr82746385727463945E06910094
chr82746397727464055E06910214
chr82746424827464302E06910485
chr82746546827465629E06911705
chr82746563527465729E06911872
chr82746575927466832E06911996
chr82746690327467085E06913140
chr82746720727467275E06913444
chr82746729227467342E06913529
chr82747300127473271E06919238
chr82747418127475182E06920418
chr82749505227495192E06941289
chr82749525327495303E06941490
chr82749586827495918E06942105
chr82749598027496034E06942217
chr82749608827496204E06942325
chr82746002227460220E0706259
chr82746057727461270E0706814
chr82746133327461522E0707570
chr82746153927461608E0707776
chr82746163327461813E0707870
chr82746187027461930E0708107
chr82746397727464055E07010214
chr82746424827464302E07010485
chr82746533527465396E07011572
chr82746983427469916E07016071
chr82746996327470075E07016200
chr82747016627470416E07016403
chr82747043127470500E07016668
chr82747300127473271E07019238
chr82749443727494648E07040674
chr82749470227494793E07040939
chr82749486627494936E07041103
chr82749505227495192E07041289
chr82749525327495303E07041490
chr82749586827495918E07042105
chr82749598027496034E07042217
chr82749608827496204E07042325
chr82749624627496296E07042483
chr82749630027496350E07042537
chr82749665027496734E07042887
chr82749676227496821E07042999
chr82749682227496912E07043059
chr82749693327497040E07043170
chr82749709227497161E07043329
chr82749718327497392E07043420
chr82746002227460220E0716259
chr82746057727461270E0716814
chr82746133327461522E0717570
chr82746153927461608E0717776
chr82746163327461813E0717870
chr82746361827463770E0719855
chr82746385727463945E07110094
chr82746397727464055E07110214
chr82746424827464302E07110485
chr82746533527465396E07111572
chr82746546827465629E07111705
chr82746563527465729E07111872
chr82746690327467085E07113140
chr82747300127473271E07119238
chr82747336827473464E07119605
chr82747351327473588E07119750
chr82747360327473669E07119840
chr82747391027474171E07120147
chr82747418127475182E07120418
chr82749470227494793E07140939
chr82749486627494936E07141103
chr82749665027496734E07142887
chr82749676227496821E07142999
chr82749682227496912E07143059
chr82749693327497040E07143170
chr82749709227497161E07143329
chr82749718327497392E07143420
chr82750275327502803E07148990
chr82750282727503263E07149064
chr82745804527458256E0724282
chr82745878627458881E0725023
chr82745891727458967E0725154
chr82745908027459130E0725317
chr82745954527459595E0725782
chr82745962127459928E0725858
chr82746002227460220E0726259
chr82746057727461270E0726814
chr82746133327461522E0727570
chr82746153927461608E0727776
chr82746163327461813E0727870
chr82746397727464055E07210214
chr82746546827465629E07211705
chr82746563527465729E07211872
chr82746575927466832E07211996
chr82746690327467085E07213140
chr82746720727467275E07213444
chr82746729227467342E07213529
chr82746740727467457E07213644
chr82747391027474171E07220147
chr82747418127475182E07220418
chr82749470227494793E07240939
chr82749486627494936E07241103
chr82749505227495192E07241289
chr82749665027496734E07242887
chr82749676227496821E07242999
chr82749682227496912E07243059
chr82749693327497040E07243170
chr82749718327497392E07243420
chr82745729827457387E0733535
chr82745739127457463E0733628
chr82746002227460220E0736259
chr82746057727461270E0736814
chr82746133327461522E0737570
chr82746153927461608E0737776
chr82746163327461813E0737870
chr82746385727463945E07310094
chr82746397727464055E07310214
chr82746424827464302E07310485
chr82746533527465396E07311572
chr82746546827465629E07311705
chr82746563527465729E07311872
chr82746740727467457E07313644
chr82747300127473271E07319238
chr82747336827473464E07319605
chr82747351327473588E07319750
chr82747418127475182E07320418
chr82749340227493647E07339639
chr82749365727493925E07339894
chr82749404927494401E07340286
chr82749443727494648E07340674
chr82749470227494793E07340939
chr82749486627494936E07341103
chr82749505227495192E07341289
chr82749525327495303E07341490
chr82749586827495918E07342105
chr82749598027496034E07342217
chr82749608827496204E07342325
chr82749624627496296E07342483
chr82749630027496350E07342537
chr82749665027496734E07342887
chr82749676227496821E07342999
chr82749682227496912E07343059
chr82749693327497040E07343170
chr82749709227497161E07343329
chr82749718327497392E07343420
chr82749754427497584E07343781
chr82749870227499102E07344939
chr82750282727503263E07349064
chr82740440027404728E074-49035
chr82743344327433493E074-20270
chr82743373127433818E074-19945
chr82744198827442705E074-11058
chr82746057727461270E0746814
chr82746133327461522E0747570
chr82746153927461608E0747776
chr82746397727464055E07410214
chr82746424827464302E07410485
chr82746546827465629E07411705
chr82746563527465729E07411872
chr82746575927466832E07411996
chr82746690327467085E07413140
chr82746720727467275E07413444
chr82746729227467342E07413529
chr82746740727467457E07413644
chr82746983427469916E07416071
chr82747418127475182E07420418
chr82749340227493647E07439639
chr82749365727493925E07439894
chr82749443727494648E07440674
chr82749470227494793E07440939
chr82749486627494936E07441103
chr82749505227495192E07441289
chr82749525327495303E07441490
chr82749586827495918E07442105
chr82749598027496034E07442217
chr82749608827496204E07442325
chr82749624627496296E07442483
chr82749630027496350E07442537
chr82740410427404184E081-49579
chr82740424927404316E081-49447
chr82740440027404728E081-49035
chr82743703527437085E081-16678
chr82743726027438238E081-15525
chr82743830927438489E081-15274
chr82743859227438688E081-15075
chr82743884227438965E081-14798
chr82746546827465629E08111705
chr82746563527465729E08111872
chr82746575927466832E08111996
chr82746690327467085E08113140
chr82746720727467275E08113444
chr82746729227467342E08113529
chr82746740727467457E08113644
chr82746754227467837E08113779
chr82746786427469811E08114101
chr82740410427404184E082-49579
chr82740424927404316E082-49447
chr82740440027404728E082-49035
chr82743703527437085E082-16678
chr82746690327467085E08213140
chr82746720727467275E08213444
chr82746729227467342E08213529
chr82746740727467457E08213644
chr82749470227494793E08240939
chr82749486627494936E08241103
chr82749505227495192E08241289










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82749085827491492E06737095
chr82749149427492021E06737731
chr82749203427492097E06738271
chr82740488127406127E068-47636
chr82749085827491492E06837095
chr82749149427492021E06837731
chr82749203427492097E06838271
chr82749085827491492E06937095
chr82749149427492021E06937731
chr82749203427492097E06938271
chr82749085827491492E07037095
chr82749149427492021E07037731
chr82749203427492097E07038271
chr82740488127406127E071-47636
chr82749085827491492E07137095
chr82749149427492021E07137731
chr82749203427492097E07138271
chr82740488127406127E072-47636
chr82749085827491492E07237095
chr82749149427492021E07237731
chr82749203427492097E07238271
chr82740488127406127E073-47636
chr82749085827491492E07337095
chr82749149427492021E07337731
chr82749203427492097E07338271
chr82749085827491492E07437095
chr82749149427492021E07437731
chr82749203427492097E07438271
chr82749085827491492E08237095
chr82749149427492021E08237731
chr82749203427492097E08238271