rs428726

Homo sapiens
G>A
CARS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0312 (9362/29948,GnomAD)
A=0291 (8496/29118,TOPMED)
A=0385 (1928/5008,1000G)
A=0401 (1545/3854,ALSPAC)
A=0391 (1450/3708,TWINSUK)
chr11:3024971 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.3024971G>A
GRCh37.p13 chr 11NC_000011.9:g.3046201G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.256028A>G

Gene: CARS, cysteinyl-tRNA synthetase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CARS transcript variant 3NM_001014437.2:c.N/AIntron Variant
CARS transcript variant 5NM_001194997.1:c.N/AIntron Variant
CARS transcript variant 2NM_001751.5:c.N/AIntron Variant
CARS transcript variant 1NM_139273.3:c.N/AIntron Variant
CARS transcript variant 4NR_036542.1:n.N/AIntron Variant
CARS transcript variant X8XM_006718341.3:c.N/AIntron Variant
CARS transcript variant X9XM_017018389.1:c.N/AIntron Variant
CARS transcript variant X10XM_017018390.1:c.N/AIntron Variant
CARS transcript variant X15XM_017018391.1:c.N/AIntron Variant
CARS transcript variant X12XM_017018392.1:c.N/AIntron Variant
CARS transcript variant X6XR_001747995.1:n.N/AIntron Variant
CARS transcript variant X7XR_001747996.1:n.N/AIntron Variant
CARS transcript variant X14XR_001747997.1:n.N/AIntron Variant
CARS transcript variant X17XR_001747998.1:n.N/AIntron Variant
CARS transcript variant X1XR_428857.1:n.N/AIntron Variant
CARS transcript variant X7XR_930913.1:n.N/AIntron Variant
CARS transcript variant X16XR_930914.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.951A=0.049
1000GenomesAmericanSub694G=0.460A=0.540
1000GenomesEast AsianSub1008G=0.341A=0.659
1000GenomesEuropeSub1006G=0.605A=0.395
1000GenomesGlobalStudy-wide5008G=0.615A=0.385
1000GenomesSouth AsianSub978G=0.560A=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.599A=0.401
The Genome Aggregation DatabaseAfricanSub8726G=0.903A=0.097
The Genome Aggregation DatabaseAmericanSub836G=0.440A=0.560
The Genome Aggregation DatabaseEast AsianSub1620G=0.377A=0.623
The Genome Aggregation DatabaseEuropeSub18464G=0.625A=0.374
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.687A=0.312
The Genome Aggregation DatabaseOtherSub302G=0.570A=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.708A=0.291
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.609A=0.391
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs4287260.00044alcohol dependence(Early Onset)20201924
rs4287260.00048alcohol dependence20201924

eQTL of rs428726 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 rs428726 in Fetal Brain

Probe ID Position Gene beta p-value
cg25174290chr11:3078921CARS-0.009647717482086716.4319e-10

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 )
chr1130034183003948E067-42253
chr1130044323004472E067-41729
chr1130044753004606E067-41595
chr1130083713008482E067-37719
chr1130085403008614E067-37587
chr1130090683009383E067-36818
chr1130197123019867E067-26334
chr1130199653020015E067-26186
chr1130206083020715E067-25486
chr1130207813020831E067-25370
chr1130209853021035E067-25166
chr1130213433023046E067-23155
chr1130231133023234E067-22967
chr1130232433023293E067-22908
chr1130233113023375E067-22826
chr1130235313023614E067-22587
chr1130238543023904E067-22297
chr1130242343024284E067-21917
chr1130245403024669E067-21532
chr1130246863024736E067-21465
chr1130250523025109E067-21092
chr1130251573025416E067-20785
chr1130256733025723E067-20478
chr1130420223042072E067-4129
chr1130422623042740E067-3461
chr1130511793051219E0674978
chr1130513803051434E0675179
chr1130515143051804E0675313
chr1130564463056535E06710245
chr1130566183056925E06710417
chr1130576093058080E06711408
chr1130629663063295E06716765
chr1130633203063649E06717119
chr1130637243064341E06717523
chr1130643523064467E06718151
chr1130644723064738E06718271
chr1130647903065068E06718589
chr1130651893065537E06718988
chr1130669483067262E06720747
chr1130675333067642E06721332
chr1130701433070222E06723942
chr1130705253070657E06724324
chr1130719533072606E06725752
chr1130726313072772E06726430
chr1130727963072945E06726595
chr1130730123073201E06726811
chr1130732963073612E06727095
chr1130736943073734E06727493
chr1130738113073861E06727610
chr1130738833074165E06727682
chr1130741703074250E06727969
chr1130743373074387E06728136
chr1130767893076854E06730588
chr1130771563077285E06730955
chr1130034183003948E068-42253
chr1130044323004472E068-41729
chr1130044753004606E068-41595
chr1130046313004681E068-41520
chr1130047883004842E068-41359
chr1130206083020715E068-25486
chr1130207813020831E068-25370
chr1130209853021035E068-25166
chr1130231133023234E068-22967
chr1130232433023293E068-22908
chr1130233113023375E068-22826
chr1130235313023614E068-22587
chr1130238543023904E068-22297
chr1130242343024284E068-21917
chr1130245403024669E068-21532
chr1130246863024736E068-21465
chr1130250523025109E068-21092
chr1130251573025416E068-20785
chr1130256733025723E068-20478
chr1130259883026062E068-20139
chr1130271013027156E068-19045
chr1130420223042072E068-4129
chr1130422623042740E068-3461
chr1130429893043063E068-3138
chr1130432503043327E068-2874
chr1130434703044622E068-1579
chr1130583013059394E06812100
chr1130629663063295E06816765
chr1130633203063649E06817119
chr1130637243064341E06817523
chr1130643523064467E06818151
chr1130644723064738E06818271
chr1130647903065068E06818589
chr1130651893065537E06818988
chr1130705253070657E06824324
chr1130719533072606E06825752
chr1130726313072772E06826430
chr1130727963072945E06826595
chr1130730123073201E06826811
chr1130732963073612E06827095
chr1130771563077285E06830955
chr1129968922997117E069-49084
chr1129971372997477E069-48724
chr1129975392997788E069-48413
chr1129978042998183E069-48018
chr1130034183003948E069-42253
chr1130044323004472E069-41729
chr1130044753004606E069-41595
chr1130046313004681E069-41520
chr1130047883004842E069-41359
chr1130083713008482E069-37719
chr1130206083020715E069-25486
chr1130207813020831E069-25370
chr1130209853021035E069-25166
chr1130231133023234E069-22967
chr1130232433023293E069-22908
chr1130233113023375E069-22826
chr1130235313023614E069-22587
chr1130238543023904E069-22297
chr1130242343024284E069-21917
chr1130245403024669E069-21532
chr1130246863024736E069-21465
chr1130250523025109E069-21092
chr1130251573025416E069-20785
chr1130310653031130E069-15071
chr1130312013031261E069-14940
chr1130418503041909E069-4292
chr1130420223042072E069-4129
chr1130422623042740E069-3461
chr1130434703044622E069-1579
chr1130446673044748E069-1453
chr1130501743050295E0693973
chr1130503373050432E0694136
chr1130505563050763E0694355
chr1130511793051219E0694978
chr1130513803051434E0695179
chr1130515143051804E0695313
chr1130583013059394E06912100
chr1130629663063295E06916765
chr1130633203063649E06917119
chr1130637243064341E06917523
chr1130643523064467E06918151
chr1130644723064738E06918271
chr1130647903065068E06918589
chr1130651893065537E06918988
chr1130690883069175E06922887
chr1130696973069741E06923496
chr1130701433070222E06923942
chr1130719533072606E06925752
chr1130726313072772E06926430
chr1130727963072945E06926595
chr1130730123073201E06926811
chr1130732963073612E06927095
chr1130736943073734E06927493
chr1130738113073861E06927610
chr1130738833074165E06927682
chr1130741703074250E06927969
chr1130033003003360E070-42841
chr1130034183003948E070-42253
chr1130705253070657E07024324
chr1130738113073861E07027610
chr1130767893076854E07030588
chr1130771563077285E07030955
chr1130034183003948E071-42253
chr1130044323004472E071-41729
chr1130044753004606E071-41595
chr1130046313004681E071-41520
chr1130047883004842E071-41359
chr1130049403004995E071-41206
chr1130083713008482E071-37719
chr1130085403008614E071-37587
chr1130090683009383E071-36818
chr1130206083020715E071-25486
chr1130207813020831E071-25370
chr1130209853021035E071-25166
chr1130231133023234E071-22967
chr1130232433023293E071-22908
chr1130233113023375E071-22826
chr1130235313023614E071-22587
chr1130238543023904E071-22297
chr1130242343024284E071-21917
chr1130245403024669E071-21532
chr1130246863024736E071-21465
chr1130250523025109E071-21092
chr1130251573025416E071-20785
chr1130256733025723E071-20478
chr1130309213030975E071-15226
chr1130310653031130E071-15071
chr1130312013031261E071-14940
chr1130346583034866E071-11335
chr1130350633035174E071-11027
chr1130365123036578E071-9623
chr1130366553036836E071-9365
chr1130418503041909E071-4292
chr1130420223042072E071-4129
chr1130422623042740E071-3461
chr1130503373050432E0714136
chr1130505563050763E0714355
chr1130511793051219E0714978
chr1130513803051434E0715179
chr1130515143051804E0715313
chr1130518653052209E0715664
chr1130576093058080E07111408
chr1130583013059394E07112100
chr1130629663063295E07116765
chr1130633203063649E07117119
chr1130637243064341E07117523
chr1130643523064467E07118151
chr1130644723064738E07118271
chr1130647903065068E07118589
chr1130651893065537E07118988
chr1130659703066020E07119769
chr1130675333067642E07121332
chr1130695763069626E07123375
chr1130696973069741E07123496
chr1130701433070222E07123942
chr1130719533072606E07125752
chr1130726313072772E07126430
chr1130727963072945E07126595
chr1130730123073201E07126811
chr1130732963073612E07127095
chr1130736943073734E07127493
chr1130738113073861E07127610
chr1130738833074165E07127682
chr1130747863074867E07128585
chr1130749053074959E07128704
chr1130751083075172E07128907
chr1130755193075651E07129318
chr1130758093075895E07129608
chr1130759263076058E07129725
chr1130760923076146E07129891
chr1130767893076854E07130588
chr1129968922997117E072-49084
chr1129971372997477E072-48724
chr1129975392997788E072-48413
chr1129978042998183E072-48018
chr1130024623002554E072-43647
chr1130026943002744E072-43457
chr1130030563003286E072-42915
chr1130033003003360E072-42841
chr1130034183003948E072-42253
chr1130044323004472E072-41729
chr1130044753004606E072-41595
chr1130046313004681E072-41520
chr1130047883004842E072-41359
chr1130049403004995E072-41206
chr1130090683009383E072-36818
chr1130206083020715E072-25486
chr1130207813020831E072-25370
chr1130209853021035E072-25166
chr1130213433023046E072-23155
chr1130231133023234E072-22967
chr1130232433023293E072-22908
chr1130233113023375E072-22826
chr1130235313023614E072-22587
chr1130238543023904E072-22297
chr1130242343024284E072-21917
chr1130245403024669E072-21532
chr1130246863024736E072-21465
chr1130250523025109E072-21092
chr1130251573025416E072-20785
chr1130256733025723E072-20478
chr1130259883026062E072-20139
chr1130309213030975E072-15226
chr1130310653031130E072-15071
chr1130312013031261E072-14940
chr1130317513031801E072-14400
chr1130319633032013E072-14188
chr1130321823032490E072-13711
chr1130366553036836E072-9365
chr1130368513036917E072-9284
chr1130418503041909E072-4292
chr1130420223042072E072-4129
chr1130422623042740E072-3461
chr1130511793051219E0724978
chr1130513803051434E0725179
chr1130515143051804E0725313
chr1130576093058080E07211408
chr1130583013059394E07212100
chr1130629663063295E07216765
chr1130633203063649E07217119
chr1130637243064341E07217523
chr1130643523064467E07218151
chr1130644723064738E07218271
chr1130647903065068E07218589
chr1130651893065537E07218988
chr1130659703066020E07219769
chr1130660283066093E07219827
chr1130661263066207E07219925
chr1130669483067262E07220747
chr1130675333067642E07221332
chr1130701433070222E07223942
chr1130719533072606E07225752
chr1130726313072772E07226430
chr1130727963072945E07226595
chr1130730123073201E07226811
chr1130732963073612E07227095
chr1130736943073734E07227493
chr1130738113073861E07227610
chr1130738833074165E07227682
chr1130767893076854E07230588
chr1129975392997788E073-48413
chr1129978042998183E073-48018
chr1130030563003286E073-42915
chr1130033003003360E073-42841
chr1130034183003948E073-42253
chr1130081743008263E073-37938
chr1130083713008482E073-37719
chr1130085403008614E073-37587
chr1130090683009383E073-36818
chr1130206083020715E073-25486
chr1130207813020831E073-25370
chr1130209853021035E073-25166
chr1130213433023046E073-23155
chr1130231133023234E073-22967
chr1130232433023293E073-22908
chr1130233113023375E073-22826
chr1130235313023614E073-22587
chr1130238543023904E073-22297
chr1130242343024284E073-21917
chr1130251573025416E073-20785
chr1130256733025723E073-20478
chr1130309213030975E073-15226
chr1130310653031130E073-15071
chr1130312013031261E073-14940
chr1130420223042072E073-4129
chr1130422623042740E073-3461
chr1130511793051219E0734978
chr1130513803051434E0735179
chr1130515143051804E0735313
chr1130576093058080E07311408
chr1130583013059394E07312100
chr1130629663063295E07316765
chr1130633203063649E07317119
chr1130637243064341E07317523
chr1130643523064467E07318151
chr1130644723064738E07318271
chr1130647903065068E07318589
chr1130651893065537E07318988
chr1130701433070222E07323942
chr1130719533072606E07325752
chr1130726313072772E07326430
chr1130727963072945E07326595
chr1130730123073201E07326811
chr1130732963073612E07327095
chr1130736943073734E07327493
chr1130738113073861E07327610
chr1130738833074165E07327682
chr1130741703074250E07327969
chr1130755193075651E07329318
chr1130758093075895E07329608
chr1130771563077285E07330955
chr1129999033000044E074-46157
chr1130030563003286E074-42915
chr1130033003003360E074-42841
chr1130034183003948E074-42253
chr1130044323004472E074-41729
chr1130044753004606E074-41595
chr1130046313004681E074-41520
chr1130047883004842E074-41359
chr1130049403004995E074-41206
chr1130081743008263E074-37938
chr1130083713008482E074-37719
chr1130085403008614E074-37587
chr1130188263018892E074-27309
chr1130190553019389E074-26812
chr1130206083020715E074-25486
chr1130207813020831E074-25370
chr1130209853021035E074-25166
chr1130213433023046E074-23155
chr1130231133023234E074-22967
chr1130235313023614E074-22587
chr1130238543023904E074-22297
chr1130242343024284E074-21917
chr1130245403024669E074-21532
chr1130246863024736E074-21465
chr1130250523025109E074-21092
chr1130251573025416E074-20785
chr1130256733025723E074-20478
chr1130266363026866E074-19335
chr1130269373026988E074-19213
chr1130271013027156E074-19045
chr1130310653031130E074-15071
chr1130312013031261E074-14940
chr1130317513031801E074-14400
chr1130350633035174E074-11027
chr1130418503041909E074-4292
chr1130420223042072E074-4129
chr1130422623042740E074-3461
chr1130511793051219E0744978
chr1130513803051434E0745179
chr1130515143051804E0745313
chr1130518653052209E0745664
chr1130583013059394E07412100
chr1130629663063295E07416765
chr1130633203063649E07417119
chr1130637243064341E07417523
chr1130643523064467E07418151
chr1130644723064738E07418271
chr1130647903065068E07418589
chr1130651893065537E07418988
chr1130675333067642E07421332
chr1130701433070222E07423942
chr1130719533072606E07425752
chr1130726313072772E07426430
chr1130727963072945E07426595
chr1130730123073201E07426811
chr1130732963073612E07427095
chr1130736943073734E07427493
chr1130738113073861E07427610
chr1130738833074165E07427682
chr1130771563077285E07430955
chr1130207813020831E081-25370
chr1130209853021035E081-25166
chr1130213433023046E081-23155
chr1130707813071702E08124580
chr1130764953076545E08130294
chr1130771563077285E08130955
chr1130090683009383E082-36818
chr1130213433023046E082-23155
chr1130767893076854E08230588
chr1130771563077285E08230955










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1130117713011832E067-34369
chr1130118583014423E067-31778
chr1130775593079427E06731358
chr1130117713011832E068-34369
chr1130118583014423E068-31778
chr1130775593079427E06831358
chr1130117713011832E069-34369
chr1130118583014423E069-31778
chr1130775593079427E06931358
chr1130117713011832E070-34369
chr1130118583014423E070-31778
chr1130775593079427E07031358
chr1130117713011832E071-34369
chr1130118583014423E071-31778
chr1130775593079427E07131358
chr1130117713011832E072-34369
chr1130118583014423E072-31778
chr1130775593079427E07231358
chr1130117713011832E073-34369
chr1130118583014423E073-31778
chr1130775593079427E07331358
chr1130117713011832E074-34369
chr1130118583014423E074-31778
chr1130775593079427E07431358
chr1130117713011832E081-34369
chr1130775593079427E08131358
chr1130117713011832E082-34369
chr1130118583014423E082-31778
chr1130775593079427E08231358