rs369461

Homo sapiens
T>C
CARS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0311 (9328/29934,GnomAD)
C=0285 (8302/29118,TOPMED)
C=0387 (1937/5008,1000G)
C=0400 (1541/3854,ALSPAC)
C=0391 (1450/3708,TWINSUK)
chr11:3040762 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
347 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.3040762T>C
GRCh37.p13 chr 11NC_000011.9:g.3061992T>C
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.271787C>T

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 X12XM_017018392.1:c.N/AIntron Variant
CARS transcript variant X15XM_017018391.1:c.N/A5 Prime UTR 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
1000GenomesAfricanSub1322T=0.966C=0.034
1000GenomesAmericanSub694T=0.470C=0.530
1000GenomesEast AsianSub1008T=0.312C=0.688
1000GenomesEuropeSub1006T=0.603C=0.397
1000GenomesGlobalStudy-wide5008T=0.613C=0.387
1000GenomesSouth AsianSub978T=0.560C=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.600C=0.400
The Genome Aggregation DatabaseAfricanSub8718T=0.915C=0.085
The Genome Aggregation DatabaseAmericanSub838T=0.440C=0.560
The Genome Aggregation DatabaseEast AsianSub1608T=0.344C=0.656
The Genome Aggregation DatabaseEuropeSub18470T=0.624C=0.375
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.688C=0.311
The Genome Aggregation DatabaseOtherSub300T=0.570C=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.714C=0.285
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.609C=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
rs3694610.00048alcohol dependence(early age of onset)20201924
rs3694610.00057alcohol dependence20201924

eQTL of rs369461 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 rs369461 in Fetal Brain

Probe ID Position Gene beta p-value
cg25174290chr11:3078921CARS-0.00992985301854593.2250e-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 )
chr1130197123019867E067-42125
chr1130199653020015E067-41977
chr1130206083020715E067-41277
chr1130207813020831E067-41161
chr1130209853021035E067-40957
chr1130213433023046E067-38946
chr1130231133023234E067-38758
chr1130232433023293E067-38699
chr1130233113023375E067-38617
chr1130235313023614E067-38378
chr1130238543023904E067-38088
chr1130242343024284E067-37708
chr1130245403024669E067-37323
chr1130246863024736E067-37256
chr1130250523025109E067-36883
chr1130251573025416E067-36576
chr1130256733025723E067-36269
chr1130420223042072E067-19920
chr1130422623042740E067-19252
chr1130511793051219E067-10773
chr1130513803051434E067-10558
chr1130515143051804E067-10188
chr1130564463056535E067-5457
chr1130566183056925E067-5067
chr1130576093058080E067-3912
chr1130629663063295E067974
chr1130633203063649E0671328
chr1130637243064341E0671732
chr1130643523064467E0672360
chr1130644723064738E0672480
chr1130647903065068E0672798
chr1130651893065537E0673197
chr1130669483067262E0674956
chr1130675333067642E0675541
chr1130701433070222E0678151
chr1130705253070657E0678533
chr1130719533072606E0679961
chr1130726313072772E06710639
chr1130727963072945E06710804
chr1130730123073201E06711020
chr1130732963073612E06711304
chr1130736943073734E06711702
chr1130738113073861E06711819
chr1130738833074165E06711891
chr1130741703074250E06712178
chr1130743373074387E06712345
chr1130767893076854E06714797
chr1130771563077285E06715164
chr1130206083020715E068-41277
chr1130207813020831E068-41161
chr1130209853021035E068-40957
chr1130231133023234E068-38758
chr1130232433023293E068-38699
chr1130233113023375E068-38617
chr1130235313023614E068-38378
chr1130238543023904E068-38088
chr1130242343024284E068-37708
chr1130245403024669E068-37323
chr1130246863024736E068-37256
chr1130250523025109E068-36883
chr1130251573025416E068-36576
chr1130256733025723E068-36269
chr1130259883026062E068-35930
chr1130271013027156E068-34836
chr1130420223042072E068-19920
chr1130422623042740E068-19252
chr1130429893043063E068-18929
chr1130432503043327E068-18665
chr1130434703044622E068-17370
chr1130583013059394E068-2598
chr1130629663063295E068974
chr1130633203063649E0681328
chr1130637243064341E0681732
chr1130643523064467E0682360
chr1130644723064738E0682480
chr1130647903065068E0682798
chr1130651893065537E0683197
chr1130705253070657E0688533
chr1130719533072606E0689961
chr1130726313072772E06810639
chr1130727963072945E06810804
chr1130730123073201E06811020
chr1130732963073612E06811304
chr1130771563077285E06815164
chr1130206083020715E069-41277
chr1130207813020831E069-41161
chr1130209853021035E069-40957
chr1130231133023234E069-38758
chr1130232433023293E069-38699
chr1130233113023375E069-38617
chr1130235313023614E069-38378
chr1130238543023904E069-38088
chr1130242343024284E069-37708
chr1130245403024669E069-37323
chr1130246863024736E069-37256
chr1130250523025109E069-36883
chr1130251573025416E069-36576
chr1130310653031130E069-30862
chr1130312013031261E069-30731
chr1130418503041909E069-20083
chr1130420223042072E069-19920
chr1130422623042740E069-19252
chr1130434703044622E069-17370
chr1130446673044748E069-17244
chr1130501743050295E069-11697
chr1130503373050432E069-11560
chr1130505563050763E069-11229
chr1130511793051219E069-10773
chr1130513803051434E069-10558
chr1130515143051804E069-10188
chr1130583013059394E069-2598
chr1130629663063295E069974
chr1130633203063649E0691328
chr1130637243064341E0691732
chr1130643523064467E0692360
chr1130644723064738E0692480
chr1130647903065068E0692798
chr1130651893065537E0693197
chr1130690883069175E0697096
chr1130696973069741E0697705
chr1130701433070222E0698151
chr1130719533072606E0699961
chr1130726313072772E06910639
chr1130727963072945E06910804
chr1130730123073201E06911020
chr1130732963073612E06911304
chr1130736943073734E06911702
chr1130738113073861E06911819
chr1130738833074165E06911891
chr1130741703074250E06912178
chr1130705253070657E0708533
chr1130738113073861E07011819
chr1130767893076854E07014797
chr1130771563077285E07015164
chr1130206083020715E071-41277
chr1130207813020831E071-41161
chr1130209853021035E071-40957
chr1130231133023234E071-38758
chr1130232433023293E071-38699
chr1130233113023375E071-38617
chr1130235313023614E071-38378
chr1130238543023904E071-38088
chr1130242343024284E071-37708
chr1130245403024669E071-37323
chr1130246863024736E071-37256
chr1130250523025109E071-36883
chr1130251573025416E071-36576
chr1130256733025723E071-36269
chr1130309213030975E071-31017
chr1130310653031130E071-30862
chr1130312013031261E071-30731
chr1130346583034866E071-27126
chr1130350633035174E071-26818
chr1130365123036578E071-25414
chr1130366553036836E071-25156
chr1130418503041909E071-20083
chr1130420223042072E071-19920
chr1130422623042740E071-19252
chr1130503373050432E071-11560
chr1130505563050763E071-11229
chr1130511793051219E071-10773
chr1130513803051434E071-10558
chr1130515143051804E071-10188
chr1130518653052209E071-9783
chr1130576093058080E071-3912
chr1130583013059394E071-2598
chr1130629663063295E071974
chr1130633203063649E0711328
chr1130637243064341E0711732
chr1130643523064467E0712360
chr1130644723064738E0712480
chr1130647903065068E0712798
chr1130651893065537E0713197
chr1130659703066020E0713978
chr1130675333067642E0715541
chr1130695763069626E0717584
chr1130696973069741E0717705
chr1130701433070222E0718151
chr1130719533072606E0719961
chr1130726313072772E07110639
chr1130727963072945E07110804
chr1130730123073201E07111020
chr1130732963073612E07111304
chr1130736943073734E07111702
chr1130738113073861E07111819
chr1130738833074165E07111891
chr1130747863074867E07112794
chr1130749053074959E07112913
chr1130751083075172E07113116
chr1130755193075651E07113527
chr1130758093075895E07113817
chr1130759263076058E07113934
chr1130760923076146E07114100
chr1130767893076854E07114797
chr1130206083020715E072-41277
chr1130207813020831E072-41161
chr1130209853021035E072-40957
chr1130213433023046E072-38946
chr1130231133023234E072-38758
chr1130232433023293E072-38699
chr1130233113023375E072-38617
chr1130235313023614E072-38378
chr1130238543023904E072-38088
chr1130242343024284E072-37708
chr1130245403024669E072-37323
chr1130246863024736E072-37256
chr1130250523025109E072-36883
chr1130251573025416E072-36576
chr1130256733025723E072-36269
chr1130259883026062E072-35930
chr1130309213030975E072-31017
chr1130310653031130E072-30862
chr1130312013031261E072-30731
chr1130317513031801E072-30191
chr1130319633032013E072-29979
chr1130321823032490E072-29502
chr1130366553036836E072-25156
chr1130368513036917E072-25075
chr1130418503041909E072-20083
chr1130420223042072E072-19920
chr1130422623042740E072-19252
chr1130511793051219E072-10773
chr1130513803051434E072-10558
chr1130515143051804E072-10188
chr1130576093058080E072-3912
chr1130583013059394E072-2598
chr1130629663063295E072974
chr1130633203063649E0721328
chr1130637243064341E0721732
chr1130643523064467E0722360
chr1130644723064738E0722480
chr1130647903065068E0722798
chr1130651893065537E0723197
chr1130659703066020E0723978
chr1130660283066093E0724036
chr1130661263066207E0724134
chr1130669483067262E0724956
chr1130675333067642E0725541
chr1130701433070222E0728151
chr1130719533072606E0729961
chr1130726313072772E07210639
chr1130727963072945E07210804
chr1130730123073201E07211020
chr1130732963073612E07211304
chr1130736943073734E07211702
chr1130738113073861E07211819
chr1130738833074165E07211891
chr1130767893076854E07214797
chr1130206083020715E073-41277
chr1130207813020831E073-41161
chr1130209853021035E073-40957
chr1130213433023046E073-38946
chr1130231133023234E073-38758
chr1130232433023293E073-38699
chr1130233113023375E073-38617
chr1130235313023614E073-38378
chr1130238543023904E073-38088
chr1130242343024284E073-37708
chr1130251573025416E073-36576
chr1130256733025723E073-36269
chr1130309213030975E073-31017
chr1130310653031130E073-30862
chr1130312013031261E073-30731
chr1130420223042072E073-19920
chr1130422623042740E073-19252
chr1130511793051219E073-10773
chr1130513803051434E073-10558
chr1130515143051804E073-10188
chr1130576093058080E073-3912
chr1130583013059394E073-2598
chr1130629663063295E073974
chr1130633203063649E0731328
chr1130637243064341E0731732
chr1130643523064467E0732360
chr1130644723064738E0732480
chr1130647903065068E0732798
chr1130651893065537E0733197
chr1130701433070222E0738151
chr1130719533072606E0739961
chr1130726313072772E07310639
chr1130727963072945E07310804
chr1130730123073201E07311020
chr1130732963073612E07311304
chr1130736943073734E07311702
chr1130738113073861E07311819
chr1130738833074165E07311891
chr1130741703074250E07312178
chr1130755193075651E07313527
chr1130758093075895E07313817
chr1130771563077285E07315164
chr1130188263018892E074-43100
chr1130190553019389E074-42603
chr1130206083020715E074-41277
chr1130207813020831E074-41161
chr1130209853021035E074-40957
chr1130213433023046E074-38946
chr1130231133023234E074-38758
chr1130235313023614E074-38378
chr1130238543023904E074-38088
chr1130242343024284E074-37708
chr1130245403024669E074-37323
chr1130246863024736E074-37256
chr1130250523025109E074-36883
chr1130251573025416E074-36576
chr1130256733025723E074-36269
chr1130266363026866E074-35126
chr1130269373026988E074-35004
chr1130271013027156E074-34836
chr1130310653031130E074-30862
chr1130312013031261E074-30731
chr1130317513031801E074-30191
chr1130350633035174E074-26818
chr1130418503041909E074-20083
chr1130420223042072E074-19920
chr1130422623042740E074-19252
chr1130511793051219E074-10773
chr1130513803051434E074-10558
chr1130515143051804E074-10188
chr1130518653052209E074-9783
chr1130583013059394E074-2598
chr1130629663063295E074974
chr1130633203063649E0741328
chr1130637243064341E0741732
chr1130643523064467E0742360
chr1130644723064738E0742480
chr1130647903065068E0742798
chr1130651893065537E0743197
chr1130675333067642E0745541
chr1130701433070222E0748151
chr1130719533072606E0749961
chr1130726313072772E07410639
chr1130727963072945E07410804
chr1130730123073201E07411020
chr1130732963073612E07411304
chr1130736943073734E07411702
chr1130738113073861E07411819
chr1130738833074165E07411891
chr1130771563077285E07415164
chr1130207813020831E081-41161
chr1130209853021035E081-40957
chr1130213433023046E081-38946
chr1130707813071702E0818789
chr1130764953076545E08114503
chr1130771563077285E08115164
chr1130213433023046E082-38946
chr1130767893076854E08214797
chr1130771563077285E08215164










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1130775593079427E06715567
chr1130775593079427E06815567
chr1130775593079427E06915567
chr1130775593079427E07015567
chr1130775593079427E07115567
chr1130775593079427E07215567
chr1130775593079427E07315567
chr1130775593079427E07415567
chr1130775593079427E08115567
chr1130775593079427E08215567