rs3782323

Homo sapiens
G>A
SMARCD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0312 (9358/29928,GnomAD)
A=0330 (9611/29118,TOPMED)
A=0435 (2179/5008,1000G)
A=0216 (833/3854,ALSPAC)
A=0230 (851/3708,TWINSUK)
chr12:50089138 (GRCh38.p7) (12q13.12)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.50089138G>A
GRCh37.p13 chr 12NC_000012.11:g.50482921G>A

Gene: SMARCD1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SMARCD1 transcript variant 1NM_003076.4:c.N/AIntron Variant
SMARCD1 transcript variant 2NM_139071.2:c.N/AIntron Variant
SMARCD1 transcript variant X3XM_005269107.3:c.N/AIntron Variant
SMARCD1 transcript variant X4XM_011538695.1:c.N/AIntron Variant
SMARCD1 transcript variant X1XR_944683.1:n.N/AIntron Variant
SMARCD1 transcript variant X2XR_944684.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.573A=0.427
1000GenomesAmericanSub694G=0.610A=0.390
1000GenomesEast AsianSub1008G=0.246A=0.754
1000GenomesEuropeSub1006G=0.781A=0.219
1000GenomesGlobalStudy-wide5008G=0.565A=0.435
1000GenomesSouth AsianSub978G=0.630A=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.784A=0.216
The Genome Aggregation DatabaseAfricanSub8716G=0.596A=0.404
The Genome Aggregation DatabaseAmericanSub838G=0.630A=0.370
The Genome Aggregation DatabaseEast AsianSub1612G=0.238A=0.762
The Genome Aggregation DatabaseEuropeSub18460G=0.772A=0.227
The Genome Aggregation DatabaseGlobalStudy-wide29928G=0.687A=0.312
The Genome Aggregation DatabaseOtherSub302G=0.710A=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.669A=0.330
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.770A=0.230
PMID Title Author Journal
20532202Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.Naukkarinen JPLoS Genet
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs37823232.83E-05alcohol craving with or without dependence22481050

eQTL of rs3782323 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 rs3782323 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 )
chr125045261150452840E067-30081
chr125045286150452939E067-29982
chr125045296150453001E067-29920
chr125045306150453135E067-29786
chr125045318350453263E067-29658
chr125045334350453519E067-29402
chr125045358150454122E067-28799
chr125045412650454197E067-28724
chr125045435450454409E067-28512
chr125045455350454632E067-28289
chr125045491650455355E067-27566
chr125045543850455488E067-27433
chr125045549750455686E067-27235
chr125045581150455995E067-26926
chr125045610550456273E067-26648
chr125045628750456417E067-26504
chr125045656250456910E067-26011
chr125045691150457173E067-25748
chr125045733650457405E067-25516
chr125045752950457639E067-25282
chr125045768250457722E067-25199
chr125045831750458392E067-24529
chr125045840950458469E067-24452
chr125045855450458606E067-24315
chr125045962650460060E067-22861
chr125046006950460167E067-22754
chr125046389750464999E067-17922
chr125048096450481036E067-1885
chr125048104650481307E067-1614
chr125048135450481452E067-1469
chr125048158750483006E0670
chr125049525050495371E06712329
chr125049541250495877E06712491
chr125049589950496847E06712978
chr125049687350497008E06713952
chr125049720450497388E06714283
chr125049748250498452E06714561
chr125049853250499427E06715611
chr125049948950499529E06716568
chr125049957050499635E06716649
chr125049968950499740E06716768
chr125049989650499956E06716975
chr125050367850503788E06720757
chr125050777350507992E06724852
chr125050816450508239E06725243
chr125050826750508387E06725346
chr125051035650510442E06727435
chr125051050950510559E06727588
chr125051071150510761E06727790
chr125052635150526861E06743430
chr125052697050527068E06744049
chr125052852350528706E06745602
chr125052871750529350E06745796
chr125052939250529489E06746471
chr125052978850529847E06746867
chr125044933250449422E068-33499
chr125045286150452939E068-29982
chr125045296150453001E068-29920
chr125045306150453135E068-29786
chr125045318350453263E068-29658
chr125045334350453519E068-29402
chr125045358150454122E068-28799
chr125045412650454197E068-28724
chr125045435450454409E068-28512
chr125045455350454632E068-28289
chr125045491650455355E068-27566
chr125045543850455488E068-27433
chr125045549750455686E068-27235
chr125045581150455995E068-26926
chr125045610550456273E068-26648
chr125045628750456417E068-26504
chr125045656250456910E068-26011
chr125045691150457173E068-25748
chr125045752950457639E068-25282
chr125045768250457722E068-25199
chr125045831750458392E068-24529
chr125045953150459581E068-23340
chr125045962650460060E068-22861
chr125046006950460167E068-22754
chr125046022750460647E068-22274
chr125046389750464999E068-17922
chr125048039550480483E068-2438
chr125048054650480950E068-1971
chr125048096450481036E068-1885
chr125048104650481307E068-1614
chr125048135450481452E068-1469
chr125048158750483006E0680
chr125049455250494916E06811631
chr125049525050495371E06812329
chr125049541250495877E06812491
chr125049687350497008E06813952
chr125049720450497388E06814283
chr125049853250499427E06815611
chr125049948950499529E06816568
chr125049957050499635E06816649
chr125050300150503627E06820080
chr125050367850503788E06820757
chr125052370550523804E06840784
chr125052384850523920E06840927
chr125052407550524125E06841154
chr125052418150524370E06841260
chr125052635150526861E06843430
chr125052852350528706E06845602
chr125052871750529350E06845796
chr125052939250529489E06846471
chr125052978850529847E06846867
chr125045412650454197E069-28724
chr125045435450454409E069-28512
chr125045455350454632E069-28289
chr125045491650455355E069-27566
chr125045543850455488E069-27433
chr125045549750455686E069-27235
chr125045581150455995E069-26926
chr125045610550456273E069-26648
chr125045628750456417E069-26504
chr125045656250456910E069-26011
chr125045691150457173E069-25748
chr125045733650457405E069-25516
chr125045752950457639E069-25282
chr125045768250457722E069-25199
chr125045864950458770E069-24151
chr125045953150459581E069-23340
chr125045962650460060E069-22861
chr125046389750464999E069-17922
chr125048039550480483E069-2438
chr125048054650480950E069-1971
chr125048096450481036E069-1885
chr125049455250494916E06911631
chr125049525050495371E06912329
chr125049541250495877E06912491
chr125049589950496847E06912978
chr125049687350497008E06913952
chr125049720450497388E06914283
chr125049853250499427E06915611
chr125050367850503788E06920757
chr125050955350509642E06926632
chr125050970250509756E06926781
chr125050984950509927E06926928
chr125051024450510294E06927323
chr125051035650510442E06927435
chr125051050950510559E06927588
chr125051071150510761E06927790
chr125052635150526861E06943430
chr125052697050527068E06944049
chr125052711050527250E06944189
chr125052852350528706E06945602
chr125052871750529350E06945796
chr125052939250529489E06946471
chr125052978850529847E06946867
chr125044316050443210E070-39711
chr125044328350443495E070-39426
chr125044358750443637E070-39284
chr125044370850443788E070-39133
chr125044599150446114E070-36807
chr125044617850446241E070-36680
chr125044625050446426E070-36495
chr125044650550446570E070-36351
chr125044674750446912E070-36009
chr125044706150447190E070-35731
chr125044719350447300E070-35621
chr125044748650447782E070-35139
chr125044933250449422E070-33499
chr125045306150453135E070-29786
chr125045318350453263E070-29658
chr125045334350453519E070-29402
chr125045358150454122E070-28799
chr125045549750455686E070-27235
chr125045581150455995E070-26926
chr125045610550456273E070-26648
chr125045628750456417E070-26504
chr125045656250456910E070-26011
chr125045691150457173E070-25748
chr125045733650457405E070-25516
chr125045752950457639E070-25282
chr125045855450458606E070-24315
chr125045864950458770E070-24151
chr125045903650459086E070-23835
chr125046389750464999E070-17922
chr125048340050483450E070479
chr125048384050483903E070919
chr125049178350491871E0708862
chr125049207550492222E0709154
chr125049251550492569E0709594
chr125049272450492826E0709803
chr125049286450492917E0709943
chr125049308450493180E07010163
chr125049329450493757E07010373
chr125049376150493841E07010840
chr125049386250493967E07010941
chr125049403350494115E07011112
chr125049422150494319E07011300
chr125049455250494916E07011631
chr125049687350497008E07013952
chr125050107250501112E07018151
chr125050300150503627E07020080
chr125050367850503788E07020757
chr125044358750443637E071-39284
chr125044370850443788E071-39133
chr125045261150452840E071-30081
chr125045286150452939E071-29982
chr125045296150453001E071-29920
chr125045306150453135E071-29786
chr125045318350453263E071-29658
chr125045334350453519E071-29402
chr125045358150454122E071-28799
chr125045412650454197E071-28724
chr125045435450454409E071-28512
chr125045455350454632E071-28289
chr125045491650455355E071-27566
chr125045543850455488E071-27433
chr125045549750455686E071-27235
chr125045581150455995E071-26926
chr125045610550456273E071-26648
chr125045628750456417E071-26504
chr125045656250456910E071-26011
chr125045691150457173E071-25748
chr125045733650457405E071-25516
chr125045752950457639E071-25282
chr125045768250457722E071-25199
chr125045831750458392E071-24529
chr125045840950458469E071-24452
chr125045855450458606E071-24315
chr125045864950458770E071-24151
chr125045903650459086E071-23835
chr125045953150459581E071-23340
chr125046389750464999E071-17922
chr125048104650481307E071-1614
chr125048135450481452E071-1469
chr125048158750483006E0710
chr125049455250494916E07111631
chr125049525050495371E07112329
chr125049541250495877E07112491
chr125049589950496847E07112978
chr125049687350497008E07113952
chr125049720450497388E07114283
chr125049948950499529E07116568
chr125049957050499635E07116649
chr125049968950499740E07116768
chr125050107250501112E07118151
chr125050148850501538E07118567
chr125050300150503627E07120080
chr125050367850503788E07120757
chr125050777350507992E07124852
chr125050816450508239E07125243
chr125050826750508387E07125346
chr125051024450510294E07127323
chr125051035650510442E07127435
chr125051050950510559E07127588
chr125051071150510761E07127790
chr125051108250511341E07128161
chr125052635150526861E07143430
chr125052697050527068E07144049
chr125052711050527250E07144189
chr125052818650528237E07145265
chr125052852350528706E07145602
chr125052871750529350E07145796
chr125052939250529489E07146471
chr125052978850529847E07146867
chr125044933250449422E072-33499
chr125045306150453135E072-29786
chr125045318350453263E072-29658
chr125045334350453519E072-29402
chr125045358150454122E072-28799
chr125045412650454197E072-28724
chr125045435450454409E072-28512
chr125045455350454632E072-28289
chr125045491650455355E072-27566
chr125045543850455488E072-27433
chr125045549750455686E072-27235
chr125045581150455995E072-26926
chr125045610550456273E072-26648
chr125045628750456417E072-26504
chr125045656250456910E072-26011
chr125045691150457173E072-25748
chr125045733650457405E072-25516
chr125045752950457639E072-25282
chr125045768250457722E072-25199
chr125045831750458392E072-24529
chr125045840950458469E072-24452
chr125045855450458606E072-24315
chr125045864950458770E072-24151
chr125045903650459086E072-23835
chr125045953150459581E072-23340
chr125045962650460060E072-22861
chr125046389750464999E072-17922
chr125048054650480950E072-1971
chr125048096450481036E072-1885
chr125048104650481307E072-1614
chr125048135450481452E072-1469
chr125048158750483006E0720
chr125049525050495371E07212329
chr125049541250495877E07212491
chr125049589950496847E07212978
chr125049687350497008E07213952
chr125049720450497388E07214283
chr125049853250499427E07215611
chr125049948950499529E07216568
chr125049957050499635E07216649
chr125050300150503627E07220080
chr125050367850503788E07220757
chr125051024450510294E07227323
chr125051035650510442E07227435
chr125051050950510559E07227588
chr125051071150510761E07227790
chr125051108250511341E07228161
chr125052370550523804E07240784
chr125052384850523920E07240927
chr125052635150526861E07243430
chr125052697050527068E07244049
chr125052939250529489E07246471
chr125052978850529847E07246867
chr125045435450454409E073-28512
chr125045455350454632E073-28289
chr125045491650455355E073-27566
chr125045543850455488E073-27433
chr125045549750455686E073-27235
chr125045581150455995E073-26926
chr125045610550456273E073-26648
chr125045628750456417E073-26504
chr125045656250456910E073-26011
chr125045691150457173E073-25748
chr125045733650457405E073-25516
chr125045752950457639E073-25282
chr125045768250457722E073-25199
chr125045831750458392E073-24529
chr125045840950458469E073-24452
chr125045855450458606E073-24315
chr125045864950458770E073-24151
chr125046389750464999E073-17922
chr125048104650481307E073-1614
chr125048135450481452E073-1469
chr125048158750483006E0730
chr125049455250494916E07311631
chr125049525050495371E07312329
chr125049541250495877E07312491
chr125049589950496847E07312978
chr125049687350497008E07313952
chr125049720450497388E07314283
chr125049748250498452E07314561
chr125049853250499427E07315611
chr125049948950499529E07316568
chr125049957050499635E07316649
chr125049968950499740E07316768
chr125049989650499956E07316975
chr125050300150503627E07320080
chr125050367850503788E07320757
chr125051024450510294E07327323
chr125051035650510442E07327435
chr125051050950510559E07327588
chr125051071150510761E07327790
chr125051108250511341E07328161
chr125051141250511515E07328491
chr125051921350519411E07336292
chr125051957450519618E07336653
chr125051966050519727E07336739
chr125052635150526861E07343430
chr125052697050527068E07344049
chr125052711050527250E07344189
chr125052747750527530E07344556
chr125052852350528706E07345602
chr125052871750529350E07345796
chr125052939250529489E07346471
chr125045334350453519E074-29402
chr125045358150454122E074-28799
chr125045412650454197E074-28724
chr125045435450454409E074-28512
chr125045455350454632E074-28289
chr125045491650455355E074-27566
chr125045543850455488E074-27433
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chr125045581150455995E074-26926
chr125045610550456273E074-26648
chr125045628750456417E074-26504
chr125045656250456910E074-26011
chr125045691150457173E074-25748
chr125045733650457405E074-25516
chr125045752950457639E074-25282
chr125045768250457722E074-25199
chr125045831750458392E074-24529
chr125045953150459581E074-23340
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chr125046006950460167E074-22754
chr125046022750460647E074-22274
chr125048054650480950E074-1971
chr125049455250494916E07411631
chr125049525050495371E07412329
chr125049541250495877E07412491
chr125049589950496847E07412978
chr125049687350497008E07413952
chr125049720450497388E07414283
chr125049853250499427E07415611
chr125049948950499529E07416568
chr125049957050499635E07416649
chr125050300150503627E07420080
chr125050367850503788E07420757
chr125050777350507992E07424852
chr125050984950509927E07426928
chr125051035650510442E07427435
chr125051050950510559E07427588
chr125051071150510761E07427790
chr125051921350519411E07436292
chr125051957450519618E07436653
chr125051966050519727E07436739
chr125052635150526861E07443430
chr125052697050527068E07444049
chr125052852350528706E07445602
chr125052871750529350E07445796
chr125044316050443210E081-39711
chr125044328350443495E081-39426
chr125044358750443637E081-39284
chr125044370850443788E081-39133
chr125044599150446114E081-36807
chr125044617850446241E081-36680
chr125044625050446426E081-36495
chr125044650550446570E081-36351
chr125044674750446912E081-36009
chr125044706150447190E081-35731
chr125044719350447300E081-35621
chr125044933250449422E081-33499
chr125045261150452840E081-30081
chr125045286150452939E081-29982
chr125045296150453001E081-29920
chr125045306150453135E081-29786
chr125045318350453263E081-29658
chr125045334350453519E081-29402
chr125045358150454122E081-28799
chr125045412650454197E081-28724
chr125045435450454409E081-28512
chr125045610550456273E081-26648
chr125045628750456417E081-26504
chr125045656250456910E081-26011
chr125045691150457173E081-25748
chr125045733650457405E081-25516
chr125045752950457639E081-25282
chr125045903650459086E081-23835
chr125045953150459581E081-23340
chr125046389750464999E081-17922
chr125046646450466636E081-16285
chr125046828850469978E081-12943
chr125048039550480483E081-2438
chr125048054650480950E081-1971
chr125048096450481036E081-1885
chr125048104650481307E081-1614
chr125048135450481452E081-1469
chr125049455250494916E08111631
chr125049525050495371E08112329
chr125049541250495877E08112491
chr125049589950496847E08112978
chr125049687350497008E08113952
chr125049720450497388E08114283
chr125049748250498452E08114561
chr125049853250499427E08115611
chr125049948950499529E08116568
chr125049957050499635E08116649
chr125049968950499740E08116768
chr125049989650499956E08116975
chr125050036250500433E08117441
chr125044328350443495E082-39426
chr125044358750443637E082-39284
chr125044370850443788E082-39133
chr125044599150446114E082-36807
chr125044617850446241E082-36680
chr125044625050446426E082-36495
chr125044650550446570E082-36351
chr125044674750446912E082-36009
chr125044706150447190E082-35731
chr125044719350447300E082-35621
chr125044748650447782E082-35139
chr125044933250449422E082-33499
chr125045286150452939E082-29982
chr125045296150453001E082-29920
chr125045306150453135E082-29786
chr125045318350453263E082-29658
chr125045334350453519E082-29402
chr125045358150454122E082-28799
chr125045412650454197E082-28724
chr125045435450454409E082-28512
chr125045455350454632E082-28289
chr125045491650455355E082-27566
chr125045543850455488E082-27433
chr125045549750455686E082-27235
chr125045581150455995E082-26926
chr125045610550456273E082-26648
chr125045628750456417E082-26504
chr125045656250456910E082-26011
chr125045691150457173E082-25748
chr125046389750464999E082-17922
chr125048054650480950E082-1971
chr125048096450481036E082-1885
chr125048104650481307E082-1614
chr125048135450481452E082-1469
chr125048158750483006E0820
chr125049541250495877E08212491
chr125049589950496847E08212978
chr125049687350497008E08213952
chr125049720450497388E08214283
chr125049853250499427E08215611
chr125049948950499529E08216568
chr125049957050499635E08216649
chr125049968950499740E08216768
chr125050777350507992E08224852
chr125050816450508239E08225243
chr125050826750508387E08225346










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr125044942850452228E067-30693
chr125047841650480295E067-2626
chr125050379150506718E06720870
chr125050684250507031E06723921
chr125044942850452228E068-30693
chr125047841650480295E068-2626
chr125050379150506718E06820870
chr125050684250507031E06823921
chr125044942850452228E069-30693
chr125047841650480295E069-2626
chr125050379150506718E06920870
chr125050684250507031E06923921
chr125044942850452228E070-30693
chr125047841650480295E070-2626
chr125050684250507031E07023921
chr125044942850452228E071-30693
chr125047841650480295E071-2626
chr125050379150506718E07120870
chr125050684250507031E07123921
chr125044942850452228E072-30693
chr125047841650480295E072-2626
chr125050379150506718E07220870
chr125044942850452228E073-30693
chr125047841650480295E073-2626
chr125050379150506718E07320870
chr125050684250507031E07323921
chr125044942850452228E074-30693
chr125047841650480295E074-2626
chr125050684250507031E07423921
chr125047841650480295E081-2626
chr125044942850452228E082-30693
chr125047841650480295E082-2626
chr125050379150506718E08220870
chr125050684250507031E08223921