rs1043610

Homo sapiens
C>G / C>T
TRAK1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0317 (9497/29906,GnomAD)
T=0269 (7850/29118,TOPMED)
T=0272 (2938/10780,ExAC)
T=0268 (1341/5008,1000G)
T=0350 (1348/3854,ALSPAC)
T=0338 (1255/3708,TWINSUK)
chr3:42224142 (GRCh38.p7) (3p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.42224142C>G
GRCh38.p7 chr 3NC_000003.12:g.42224142C>T
GRCh37.p13 chr 3NC_000003.11:g.42265634C>G
GRCh37.p13 chr 3NC_000003.11:g.42265634C>T

Gene: TRAK1, trafficking protein, kinesin binding 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TRAK1 transcript variant 1NM_001042646.2:c.N/A3 Prime UTR Variant
TRAK1 transcript variant 3NM_001265608.1:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant 4NM_001265609.1:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant 5NM_001265610.1:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant 2NM_014965.4:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X2XM_005264956.2:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X6XM_005264958.2:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X2XM_017005906.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X3XM_017005907.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X7XM_017005908.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X8XM_017005909.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X7XM_017005910.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X9XM_017005911.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X10XM_005264960.3:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X12XM_017005913.1:c.N/A3 Prime UTR Variant
TRAK1 transcript variant X14XM_005264962.3:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X17XM_005264963.3:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X15XM_006713029.2:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X18XM_006713030.2:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X19XM_006713031.3:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X16XM_011533489.2:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X9XM_017005912.1:c.N/AGenic Downstream Transcript Variant
TRAK1 transcript variant X11XR_001740058.1:n....XR_001740058.1:n.3465C>GC>GNon Coding Transcript Variant
TRAK1 transcript variant X11XR_001740058.1:n....XR_001740058.1:n.3465C>TC>TNon Coding Transcript Variant
TRAK1 transcript variant X13XR_001740059.1:n....XR_001740059.1:n.3402C>GC>GNon Coding Transcript Variant
TRAK1 transcript variant X13XR_001740059.1:n....XR_001740059.1:n.3402C>TC>TNon Coding Transcript Variant
TRAK1 transcript variant X20XR_001740060.1:n....XR_001740060.1:n.3900C>GC>GNon Coding Transcript Variant
TRAK1 transcript variant X20XR_001740060.1:n....XR_001740060.1:n.3900C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.806T=0.194
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.654T=0.346
1000GenomesEuropeSub1006C=0.631T=0.369
1000GenomesGlobalStudy-wide5008C=0.732T=0.268
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.650T=0.350
The Exome Aggregation ConsortiumAmericanSub290C=0.690T=0.310
The Exome Aggregation ConsortiumAsianSub7638C=0.760T=0.240
The Exome Aggregation ConsortiumEuropeSub2734C=0.645T=0.355
The Exome Aggregation ConsortiumGlobalStudy-wide10780C=0.727T=0.272
The Exome Aggregation ConsortiumOtherSub118C=0.640T=0.360
The Genome Aggregation DatabaseAfricanSub8708C=0.792T=0.208
The Genome Aggregation DatabaseAmericanSub836C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1614C=0.648T=0.352
The Genome Aggregation DatabaseEuropeSub18446C=0.628T=0.371
The Genome Aggregation DatabaseGlobalStudy-wide29906C=0.682T=0.317
The Genome Aggregation DatabaseOtherSub302C=0.660T=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.730T=0.269
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.662T=0.338
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
rs10436100.00099alcohol dependence20201924

eQTL of rs1043610 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 rs1043610 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 )
chr37277207072772946E067-33305
chr37278904072789174E067-17077
chr37278929872789466E067-16785
chr37278949772789574E067-16677
chr37281822772818436E06711976
chr37281882672819461E06712575
chr37284691372847533E06740662
chr37284755572847637E06741304
chr37277185772772000E068-34251
chr37277207072772946E068-33305
chr37278695872787009E068-19242
chr37278904072789174E068-17077
chr37278929872789466E068-16785
chr37281700772817575E06810756
chr37281759272817698E06811341
chr37281775372817878E06811502
chr37281822772818436E06811976
chr37281882672819461E06812575
chr37284755572847637E06841304
chr37277091272771105E069-35146
chr37277207072772946E069-33305
chr37278904072789174E069-17077
chr37278929872789466E069-16785
chr37278949772789574E069-16677
chr37281822772818436E06911976
chr37281882672819461E06912575
chr37284691372847533E06940662
chr37284755572847637E06941304
chr37276991572769981E070-36270
chr37277006072770467E070-35784
chr37277649472776639E070-29612
chr37281580572816071E0709554
chr37281613472816302E0709883
chr37281636672816495E07010115
chr37281656472816647E07010313
chr37281679172816885E07010540
chr37281688872816966E07010637
chr37281822772818436E07011976
chr37281882672819461E07012575
chr37284677172846903E07040520
chr37277091272771105E071-35146
chr37277185772772000E071-34251
chr37277207072772946E071-33305
chr37278904072789174E071-17077
chr37278929872789466E071-16785
chr37279335372793834E071-12417
chr37281636672816495E07110115
chr37281656472816647E07110313
chr37281679172816885E07110540
chr37281688872816966E07110637
chr37281822772818436E07111976
chr37281882672819461E07112575
chr37284755572847637E07141304
chr37277091272771105E072-35146
chr37277207072772946E072-33305
chr37277649472776639E072-29612
chr37278904072789174E072-17077
chr37278929872789466E072-16785
chr37278949772789574E072-16677
chr37279335372793834E072-12417
chr37281636672816495E07210115
chr37281656472816647E07210313
chr37281679172816885E07210540
chr37281688872816966E07210637
chr37281822772818436E07211976
chr37281882672819461E07212575
chr37278904072789174E073-17077
chr37278929872789466E073-16785
chr37281636672816495E07310115
chr37281656472816647E07310313
chr37281679172816885E07310540
chr37281688872816966E07310637
chr37281882672819461E07312575
chr37284691372847533E07340662
chr37284755572847637E07341304
chr37277050672770659E074-35592
chr37277091272771105E074-35146
chr37277185772772000E074-34251
chr37277207072772946E074-33305
chr37277649472776639E074-29612
chr37278904072789174E074-17077
chr37278929872789466E074-16785
chr37278949772789574E074-16677
chr37279335372793834E074-12417
chr37281822772818436E07411976
chr37281882672819461E07412575
chr37284677172846903E07440520
chr37284691372847533E07440662
chr37284755572847637E07441304
chr37277091272771105E081-35146
chr37281700772817575E08110756
chr37281759272817698E08111341
chr37281775372817878E08111502
chr37281822772818436E08111976
chr37277050672770659E082-35592
chr37277091272771105E082-35146
chr37278695872787009E082-19242
chr37278904072789174E082-17077
chr37281700772817575E08210756
chr37281759272817698E08211341
chr37281775372817878E08211502
chr37281822772818436E08211976










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr37278760672788895E067-17356
chr37278760672788895E068-17356
chr37278760672788895E069-17356
chr37278760672788895E070-17356
chr37278760672788895E072-17356
chr37278760672788895E073-17356
chr37278760672788895E074-17356
chr37278760672788895E081-17356
chr37278760672788895E082-17356