rs729662

Homo sapiens
G>A
CARS : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0336 (40664/120924,ExAC)
A=0242 (7273/29940,GnomAD)
A=0227 (6609/29118,TOPMED)
G==0218 (2837/13000,GO-ESP)
A=0351 (1757/5008,1000G)
A=0287 (1106/3854,ALSPAC)
A=0274 (1017/3708,TWINSUK)
chr11:3006910 (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.3006910G>A
GRCh37.p13 chr 11NC_000011.9:g.3028140G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7NT_187585.1:g.237968A>G

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

Molecule type Change Amino acid[Codon] SO Term
CARS transcript variant 1NM_139273.3:c.186...NM_139273.3:c.1869C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform aNP_644802.1:p.Pro...NP_644802.1:p.Pro623=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant 3NM_001014437.2:c....NM_001014437.2:c.2118C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform cNP_001014437.1:p....NP_001014437.1:p.Pro706=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant 2NM_001751.5:c.186...NM_001751.5:c.1869C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform bNP_001742.1:p.Pro...NP_001742.1:p.Pro623=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant 5NM_001194997.1:c....NM_001194997.1:c.2118C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform eNP_001181926.1:p....NP_001181926.1:p.Pro706=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant 4NR_036542.1:n.224...NR_036542.1:n.2249C>TC>TNon Coding Transcript Variant
CARS transcript variant X8XM_006718341.3:c....XM_006718341.3:c.1839C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform X5XP_006718404.1:p....XP_006718404.1:p.Pro613=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant X9XM_017018389.1:c....XM_017018389.1:c.1839C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform X6XP_016873878.1:p....XP_016873878.1:p.Pro613=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant X10XM_017018390.1:c....XM_017018390.1:c.1839C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform X6XP_016873879.1:p....XP_016873879.1:p.Pro613=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant X15XM_017018391.1:c....XM_017018391.1:c.1593C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform X8XP_016873880.1:p....XP_016873880.1:p.Pro531=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant X12XM_017018392.1:c....XM_017018392.1:c.1908C>TP [CCC]> P [CCT]Coding Sequence Variant
cysteine--tRNA ligase, cytoplasmic isoform X9XP_016873881.1:p....XP_016873881.1:p.Pro636=P [Pro]> P [Pro]Synonymous Variant
CARS transcript variant X1XR_428857.1:n.217...XR_428857.1:n.2174C>TC>TNon Coding Transcript Variant
CARS transcript variant X7XR_930913.1:n.217...XR_930913.1:n.2174C>TC>TNon Coding Transcript Variant
CARS transcript variant X6XR_001747995.1:n....XR_001747995.1:n.1929C>TC>TNon Coding Transcript Variant
CARS transcript variant X7XR_001747996.1:n....XR_001747996.1:n.1929C>TC>TNon Coding Transcript Variant
CARS transcript variant X14XR_001747997.1:n....XR_001747997.1:n.2216C>TC>TNon Coding Transcript Variant
CARS transcript variant X16XR_930914.2:n.220...XR_930914.2:n.2203C>TC>TNon Coding Transcript Variant
CARS transcript variant X17XR_001747998.1:n....XR_001747998.1:n.2203C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.970A=0.030
1000GenomesAmericanSub694G=0.500A=0.500
1000GenomesEast AsianSub1008G=0.337A=0.663
1000GenomesEuropeSub1006G=0.708A=0.292
1000GenomesGlobalStudy-wide5008G=0.649A=0.351
1000GenomesSouth AsianSub978G=0.580A=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.713A=0.287
The Exome Aggregation ConsortiumAmericanSub21802G=0.653A=0.346
The Exome Aggregation ConsortiumAsianSub25108G=0.528A=0.471
The Exome Aggregation ConsortiumEuropeSub73108G=0.713A=0.286
The Exome Aggregation ConsortiumGlobalStudy-wide120924G=0.663A=0.336
The Exome Aggregation ConsortiumOtherSub906G=0.660A=0.340
The Genome Aggregation DatabaseAfricanSub8720G=0.927A=0.073
The Genome Aggregation DatabaseAmericanSub836G=0.480A=0.520
The Genome Aggregation DatabaseEast AsianSub1620G=0.371A=0.629
The Genome Aggregation DatabaseEuropeSub18462G=0.725A=0.275
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.757A=0.242
The Genome Aggregation DatabaseOtherSub302G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.773A=0.227
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.726A=0.274
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
rs7296620.000085alcohol dependence(early age of onset)20201924
rs7296620.0000852alcoholismpha002892
rs7296620.00037alcohol dependence20201924

eQTL of rs729662 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 rs729662 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 )
chr1130034183003948E067-24192
chr1130044323004472E067-23668
chr1130044753004606E067-23534
chr1130083713008482E067-19658
chr1130085403008614E067-19526
chr1130090683009383E067-18757
chr1130197123019867E067-8273
chr1130199653020015E067-8125
chr1130206083020715E067-7425
chr1130207813020831E067-7309
chr1130209853021035E067-7105
chr1130213433023046E067-5094
chr1130231133023234E067-4906
chr1130232433023293E067-4847
chr1130233113023375E067-4765
chr1130235313023614E067-4526
chr1130238543023904E067-4236
chr1130242343024284E067-3856
chr1130245403024669E067-3471
chr1130246863024736E067-3404
chr1130250523025109E067-3031
chr1130251573025416E067-2724
chr1130256733025723E067-2417
chr1130420223042072E06713882
chr1130422623042740E06714122
chr1130511793051219E06723039
chr1130513803051434E06723240
chr1130515143051804E06723374
chr1130564463056535E06728306
chr1130566183056925E06728478
chr1130576093058080E06729469
chr1130629663063295E06734826
chr1130633203063649E06735180
chr1130637243064341E06735584
chr1130643523064467E06736212
chr1130644723064738E06736332
chr1130647903065068E06736650
chr1130651893065537E06737049
chr1130669483067262E06738808
chr1130675333067642E06739393
chr1130701433070222E06742003
chr1130705253070657E06742385
chr1130719533072606E06743813
chr1130726313072772E06744491
chr1130727963072945E06744656
chr1130730123073201E06744872
chr1130732963073612E06745156
chr1130736943073734E06745554
chr1130738113073861E06745671
chr1130738833074165E06745743
chr1130741703074250E06746030
chr1130743373074387E06746197
chr1130767893076854E06748649
chr1130771563077285E06749016
chr1130034183003948E068-24192
chr1130044323004472E068-23668
chr1130044753004606E068-23534
chr1130046313004681E068-23459
chr1130047883004842E068-23298
chr1130206083020715E068-7425
chr1130207813020831E068-7309
chr1130209853021035E068-7105
chr1130231133023234E068-4906
chr1130232433023293E068-4847
chr1130233113023375E068-4765
chr1130235313023614E068-4526
chr1130238543023904E068-4236
chr1130242343024284E068-3856
chr1130245403024669E068-3471
chr1130246863024736E068-3404
chr1130250523025109E068-3031
chr1130251573025416E068-2724
chr1130256733025723E068-2417
chr1130259883026062E068-2078
chr1130271013027156E068-984
chr1130420223042072E06813882
chr1130422623042740E06814122
chr1130429893043063E06814849
chr1130432503043327E06815110
chr1130434703044622E06815330
chr1130583013059394E06830161
chr1130629663063295E06834826
chr1130633203063649E06835180
chr1130637243064341E06835584
chr1130643523064467E06836212
chr1130644723064738E06836332
chr1130647903065068E06836650
chr1130651893065537E06837049
chr1130705253070657E06842385
chr1130719533072606E06843813
chr1130726313072772E06844491
chr1130727963072945E06844656
chr1130730123073201E06844872
chr1130732963073612E06845156
chr1130771563077285E06849016
chr1129968922997117E069-31023
chr1129971372997477E069-30663
chr1129975392997788E069-30352
chr1129978042998183E069-29957
chr1130034183003948E069-24192
chr1130044323004472E069-23668
chr1130044753004606E069-23534
chr1130046313004681E069-23459
chr1130047883004842E069-23298
chr1130083713008482E069-19658
chr1130206083020715E069-7425
chr1130207813020831E069-7309
chr1130209853021035E069-7105
chr1130231133023234E069-4906
chr1130232433023293E069-4847
chr1130233113023375E069-4765
chr1130235313023614E069-4526
chr1130238543023904E069-4236
chr1130242343024284E069-3856
chr1130245403024669E069-3471
chr1130246863024736E069-3404
chr1130250523025109E069-3031
chr1130251573025416E069-2724
chr1130310653031130E0692925
chr1130312013031261E0693061
chr1130418503041909E06913710
chr1130420223042072E06913882
chr1130422623042740E06914122
chr1130434703044622E06915330
chr1130446673044748E06916527
chr1130501743050295E06922034
chr1130503373050432E06922197
chr1130505563050763E06922416
chr1130511793051219E06923039
chr1130513803051434E06923240
chr1130515143051804E06923374
chr1130583013059394E06930161
chr1130629663063295E06934826
chr1130633203063649E06935180
chr1130637243064341E06935584
chr1130643523064467E06936212
chr1130644723064738E06936332
chr1130647903065068E06936650
chr1130651893065537E06937049
chr1130690883069175E06940948
chr1130696973069741E06941557
chr1130701433070222E06942003
chr1130719533072606E06943813
chr1130726313072772E06944491
chr1130727963072945E06944656
chr1130730123073201E06944872
chr1130732963073612E06945156
chr1130736943073734E06945554
chr1130738113073861E06945671
chr1130738833074165E06945743
chr1130741703074250E06946030
chr1130033003003360E070-24780
chr1130034183003948E070-24192
chr1130705253070657E07042385
chr1130738113073861E07045671
chr1130767893076854E07048649
chr1130771563077285E07049016
chr1130034183003948E071-24192
chr1130044323004472E071-23668
chr1130044753004606E071-23534
chr1130046313004681E071-23459
chr1130047883004842E071-23298
chr1130049403004995E071-23145
chr1130083713008482E071-19658
chr1130085403008614E071-19526
chr1130090683009383E071-18757
chr1130206083020715E071-7425
chr1130207813020831E071-7309
chr1130209853021035E071-7105
chr1130231133023234E071-4906
chr1130232433023293E071-4847
chr1130233113023375E071-4765
chr1130235313023614E071-4526
chr1130238543023904E071-4236
chr1130242343024284E071-3856
chr1130245403024669E071-3471
chr1130246863024736E071-3404
chr1130250523025109E071-3031
chr1130251573025416E071-2724
chr1130256733025723E071-2417
chr1130309213030975E0712781
chr1130310653031130E0712925
chr1130312013031261E0713061
chr1130346583034866E0716518
chr1130350633035174E0716923
chr1130365123036578E0718372
chr1130366553036836E0718515
chr1130418503041909E07113710
chr1130420223042072E07113882
chr1130422623042740E07114122
chr1130503373050432E07122197
chr1130505563050763E07122416
chr1130511793051219E07123039
chr1130513803051434E07123240
chr1130515143051804E07123374
chr1130518653052209E07123725
chr1130576093058080E07129469
chr1130583013059394E07130161
chr1130629663063295E07134826
chr1130633203063649E07135180
chr1130637243064341E07135584
chr1130643523064467E07136212
chr1130644723064738E07136332
chr1130647903065068E07136650
chr1130651893065537E07137049
chr1130659703066020E07137830
chr1130675333067642E07139393
chr1130695763069626E07141436
chr1130696973069741E07141557
chr1130701433070222E07142003
chr1130719533072606E07143813
chr1130726313072772E07144491
chr1130727963072945E07144656
chr1130730123073201E07144872
chr1130732963073612E07145156
chr1130736943073734E07145554
chr1130738113073861E07145671
chr1130738833074165E07145743
chr1130747863074867E07146646
chr1130749053074959E07146765
chr1130751083075172E07146968
chr1130755193075651E07147379
chr1130758093075895E07147669
chr1130759263076058E07147786
chr1130760923076146E07147952
chr1130767893076854E07148649
chr1129860272986242E072-41898
chr1129863492986409E072-41731
chr1129968922997117E072-31023
chr1129971372997477E072-30663
chr1129975392997788E072-30352
chr1129978042998183E072-29957
chr1130024623002554E072-25586
chr1130026943002744E072-25396
chr1130030563003286E072-24854
chr1130033003003360E072-24780
chr1130034183003948E072-24192
chr1130044323004472E072-23668
chr1130044753004606E072-23534
chr1130046313004681E072-23459
chr1130047883004842E072-23298
chr1130049403004995E072-23145
chr1130090683009383E072-18757
chr1130206083020715E072-7425
chr1130207813020831E072-7309
chr1130209853021035E072-7105
chr1130213433023046E072-5094
chr1130231133023234E072-4906
chr1130232433023293E072-4847
chr1130233113023375E072-4765
chr1130235313023614E072-4526
chr1130238543023904E072-4236
chr1130242343024284E072-3856
chr1130245403024669E072-3471
chr1130246863024736E072-3404
chr1130250523025109E072-3031
chr1130251573025416E072-2724
chr1130256733025723E072-2417
chr1130259883026062E072-2078
chr1130309213030975E0722781
chr1130310653031130E0722925
chr1130312013031261E0723061
chr1130317513031801E0723611
chr1130319633032013E0723823
chr1130321823032490E0724042
chr1130366553036836E0728515
chr1130368513036917E0728711
chr1130418503041909E07213710
chr1130420223042072E07213882
chr1130422623042740E07214122
chr1130511793051219E07223039
chr1130513803051434E07223240
chr1130515143051804E07223374
chr1130576093058080E07229469
chr1130583013059394E07230161
chr1130629663063295E07234826
chr1130633203063649E07235180
chr1130637243064341E07235584
chr1130643523064467E07236212
chr1130644723064738E07236332
chr1130647903065068E07236650
chr1130651893065537E07237049
chr1130659703066020E07237830
chr1130660283066093E07237888
chr1130661263066207E07237986
chr1130669483067262E07238808
chr1130675333067642E07239393
chr1130701433070222E07242003
chr1130719533072606E07243813
chr1130726313072772E07244491
chr1130727963072945E07244656
chr1130730123073201E07244872
chr1130732963073612E07245156
chr1130736943073734E07245554
chr1130738113073861E07245671
chr1130738833074165E07245743
chr1130767893076854E07248649
chr1129975392997788E073-30352
chr1129978042998183E073-29957
chr1130030563003286E073-24854
chr1130033003003360E073-24780
chr1130034183003948E073-24192
chr1130081743008263E073-19877
chr1130083713008482E073-19658
chr1130085403008614E073-19526
chr1130090683009383E073-18757
chr1130206083020715E073-7425
chr1130207813020831E073-7309
chr1130209853021035E073-7105
chr1130213433023046E073-5094
chr1130231133023234E073-4906
chr1130232433023293E073-4847
chr1130233113023375E073-4765
chr1130235313023614E073-4526
chr1130238543023904E073-4236
chr1130242343024284E073-3856
chr1130251573025416E073-2724
chr1130256733025723E073-2417
chr1130309213030975E0732781
chr1130310653031130E0732925
chr1130312013031261E0733061
chr1130420223042072E07313882
chr1130422623042740E07314122
chr1130511793051219E07323039
chr1130513803051434E07323240
chr1130515143051804E07323374
chr1130576093058080E07329469
chr1130583013059394E07330161
chr1130629663063295E07334826
chr1130633203063649E07335180
chr1130637243064341E07335584
chr1130643523064467E07336212
chr1130644723064738E07336332
chr1130647903065068E07336650
chr1130651893065537E07337049
chr1130701433070222E07342003
chr1130719533072606E07343813
chr1130726313072772E07344491
chr1130727963072945E07344656
chr1130730123073201E07344872
chr1130732963073612E07345156
chr1130736943073734E07345554
chr1130738113073861E07345671
chr1130738833074165E07345743
chr1130741703074250E07346030
chr1130755193075651E07347379
chr1130758093075895E07347669
chr1130771563077285E07349016
chr1129999033000044E074-28096
chr1130030563003286E074-24854
chr1130033003003360E074-24780
chr1130034183003948E074-24192
chr1130044323004472E074-23668
chr1130044753004606E074-23534
chr1130046313004681E074-23459
chr1130047883004842E074-23298
chr1130049403004995E074-23145
chr1130081743008263E074-19877
chr1130083713008482E074-19658
chr1130085403008614E074-19526
chr1130188263018892E074-9248
chr1130190553019389E074-8751
chr1130206083020715E074-7425
chr1130207813020831E074-7309
chr1130209853021035E074-7105
chr1130213433023046E074-5094
chr1130231133023234E074-4906
chr1130235313023614E074-4526
chr1130238543023904E074-4236
chr1130242343024284E074-3856
chr1130245403024669E074-3471
chr1130246863024736E074-3404
chr1130250523025109E074-3031
chr1130251573025416E074-2724
chr1130256733025723E074-2417
chr1130266363026866E074-1274
chr1130269373026988E074-1152
chr1130271013027156E074-984
chr1130310653031130E0742925
chr1130312013031261E0743061
chr1130317513031801E0743611
chr1130350633035174E0746923
chr1130418503041909E07413710
chr1130420223042072E07413882
chr1130422623042740E07414122
chr1130511793051219E07423039
chr1130513803051434E07423240
chr1130515143051804E07423374
chr1130518653052209E07423725
chr1130583013059394E07430161
chr1130629663063295E07434826
chr1130633203063649E07435180
chr1130637243064341E07435584
chr1130643523064467E07436212
chr1130644723064738E07436332
chr1130647903065068E07436650
chr1130651893065537E07437049
chr1130675333067642E07439393
chr1130701433070222E07442003
chr1130719533072606E07443813
chr1130726313072772E07444491
chr1130727963072945E07444656
chr1130730123073201E07444872
chr1130732963073612E07445156
chr1130736943073734E07445554
chr1130738113073861E07445671
chr1130738833074165E07445743
chr1130771563077285E07449016
chr1130207813020831E081-7309
chr1130209853021035E081-7105
chr1130213433023046E081-5094
chr1130707813071702E08142641
chr1130764953076545E08148355
chr1130771563077285E08149016
chr1130090683009383E082-18757
chr1130213433023046E082-5094
chr1130767893076854E08248649
chr1130771563077285E08249016










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1130117713011832E067-16308
chr1130118583014423E067-13717
chr1130117713011832E068-16308
chr1130118583014423E068-13717
chr1130117713011832E069-16308
chr1130118583014423E069-13717
chr1130117713011832E070-16308
chr1130118583014423E070-13717
chr1130117713011832E071-16308
chr1130118583014423E071-13717
chr1130117713011832E072-16308
chr1130118583014423E072-13717
chr1130117713011832E073-16308
chr1130118583014423E073-13717
chr1130117713011832E074-16308
chr1130118583014423E074-13717
chr1130117713011832E081-16308
chr1130117713011832E082-16308
chr1130118583014423E082-13717