rs10891537

Homo sapiens
T>A / T>G
TTC12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0349 (10467/29960,GnomAD)
G=0298 (8703/29118,TOPMED)
T==0368 (4785/12994,GO-ESP)
G=0226 (1132/5008,1000G)
G=0496 (1911/3854,ALSPAC)
G=0479 (1776/3708,TWINSUK)
chr11:113340648 (GRCh38.p7) (11q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
247 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.113340648T>A
GRCh38.p7 chr 11NC_000011.10:g.113340648T>G
GRCh37.p13 chr 11 fix patch HG306_PATCHNW_003871078.1:g.523374T>A
GRCh37.p13 chr 11 fix patch HG306_PATCHNW_003871078.1:g.523374T>G
GRCh37.p13 chr 11NC_000011.9:g.113211370T>A
GRCh37.p13 chr 11NC_000011.9:g.113211370T>G

Gene: TTC12, tetratricopeptide repeat domain 12(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TTC12 transcript variant 1NM_001318533.1:c.N/AIntron Variant
TTC12 transcript variant 2NM_017868.3:c.N/AIntron Variant
TTC12 transcript variant X2XM_005271604.3:c.N/AIntron Variant
TTC12 transcript variant X11XM_011542890.2:c.N/AIntron Variant
TTC12 transcript variant X1XM_017017943.1:c.N/AIntron Variant
TTC12 transcript variant X3XM_017017944.1:c.N/AIntron Variant
TTC12 transcript variant X4XM_017017945.1:c.N/AIntron Variant
TTC12 transcript variant X5XM_017017946.1:c.N/AIntron Variant
TTC12 transcript variant X6XM_017017947.1:c.N/AIntron Variant
TTC12 transcript variant X7XM_017017948.1:c.N/AIntron Variant
TTC12 transcript variant X8XM_017017949.1:c.N/AIntron Variant
TTC12 transcript variant X9XM_017017950.1:c.N/AIntron Variant
TTC12 transcript variant X10XR_001747914.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.927G=0.073
1000GenomesAmericanSub694T=0.700G=0.300
1000GenomesEast AsianSub1008T=0.946G=0.054
1000GenomesEuropeSub1006T=0.515G=0.485
1000GenomesGlobalStudy-wide5008T=0.774G=0.226
1000GenomesSouth AsianSub978T=0.710G=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.504G=0.496
The Genome Aggregation DatabaseAfricanSub8724T=0.874G=0.126
The Genome Aggregation DatabaseAmericanSub838T=0.740G=0.260
The Genome Aggregation DatabaseEast AsianSub1622T=0.953G=0.047
The Genome Aggregation DatabaseEuropeSub18474T=0.517G=0.482
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.650G=0.349
The Genome Aggregation DatabaseOtherSub302T=0.450G=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.701G=0.298
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.521G=0.479
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
rs108915370.0003alcohol dependence(early age of onset) 20201924
rs108915370.00075alcohol dependence20201924

eQTL of rs10891537 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:113211370TTC12ENSG00000149292.12T>G3.5021e-1026119Cerebellum
Chr11:113211370RP11-159N11.4ENSG00000270179.1T>G4.5301e-3-27929Cerebellum
Chr11:113211370TTC12ENSG00000149292.12T>G3.5274e-1526119Frontal_Cortex_BA9
Chr11:113211370RP11-159N11.4ENSG00000270179.1T>G1.4464e-3-27929Frontal_Cortex_BA9
Chr11:113211370TTC12ENSG00000149292.12T>G1.3401e-1126119Hypothalamus
Chr11:113211370TTC12ENSG00000149292.12T>G2.0791e-1326119Cortex
Chr11:113211370TTC12ENSG00000149292.12T>G4.2684e-626119Cerebellar_Hemisphere
Chr11:113211370TTC12ENSG00000149292.12T>G1.0753e-1026119Caudate_basal_ganglia
Chr11:113211370RP11-159N11.4ENSG00000270179.1T>G2.2067e-4-27929Caudate_basal_ganglia
Chr11:113211370TTC12ENSG00000149292.12T>G3.5059e-926119Brain_Spinal_cord_cervical
Chr11:113211370TTC12ENSG00000149292.12T>G1.8208e-926119Hippocampus
Chr11:113211370TTC12ENSG00000149292.12T>G1.0004e-1026119Substantia_nigra
Chr11:113211370TTC12ENSG00000149292.12T>G6.3264e-826119Putamen_basal_ganglia
Chr11:113211370TTC12ENSG00000149292.12T>G6.6390e-1126119Anterior_cingulate_cortex
Chr11:113211370TTC12ENSG00000149292.12T>G6.0798e-1026119Nucleus_accumbens_basal_ganglia
Chr11:113211370RP11-159N11.4ENSG00000270179.1T>G2.6018e-3-27929Nucleus_accumbens_basal_ganglia
Chr11:113211370TTC12ENSG00000149292.12T>G1.8966e-1126119Amygdala

meQTL of rs10891537 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 )
chr1115622401562290E067-43537
chr1115623801562494E067-43333
chr1115626101563007E067-42820
chr1115630811563153E067-42674
chr1115632581563308E067-42519
chr1115636151563755E067-42072
chr1115638141563889E067-41938
chr1115639401563990E067-41837
chr1115701891571047E067-34780
chr1115762491576464E067-29363
chr1115764811576559E067-29268
chr1115765901576649E067-29178
chr1115767431576949E067-28878
chr1115791011580235E067-25592
chr1115802561581206E067-24621
chr1115837731584011E067-21816
chr1115840251584107E067-21720
chr1115842721584343E067-21484
chr1115851921586541E067-19286
chr1115865671586890E067-18937
chr1115869611587001E067-18826
chr1115870021587052E067-18775
chr1115871391587398E067-18429
chr1115875051587578E067-18249
chr1115876371587772E067-18055
chr1115878301588136E067-17691
chr1115881621588260E067-17567
chr1115883351589072E067-16755
chr1115891761589303E067-16524
chr1115893181591185E067-14642
chr1116102011610283E0674374
chr1116104281610807E0674601
chr1116110901611162E0675263
chr1116111751611215E0675348
chr1116113651611419E0675538
chr1116114911611632E0675664
chr1115622401562290E068-43537
chr1115623801562494E068-43333
chr1115626101563007E068-42820
chr1115630811563153E068-42674
chr1115632581563308E068-42519
chr1115636151563755E068-42072
chr1115701891571047E068-34780
chr1115764811576559E068-29268
chr1115791011580235E068-25592
chr1115802561581206E068-24621
chr1115832021583330E068-22497
chr1115833341583583E068-22244
chr1115837731584011E068-21816
chr1115840251584107E068-21720
chr1115842721584343E068-21484
chr1115851921586541E068-19286
chr1115865671586890E068-18937
chr1115869611587001E068-18826
chr1115870021587052E068-18775
chr1115871391587398E068-18429
chr1115875051587578E068-18249
chr1115876371587772E068-18055
chr1115883351589072E068-16755
chr1115891761589303E068-16524
chr1116180951618238E06812268
chr1116183491618472E06812522
chr1116184861618557E06812659
chr1116185871618652E06812760
chr1116187131618763E06812886
chr1116187991618899E06812972
chr1115586121558676E069-47151
chr1115587281558778E069-47049
chr1115588711558953E069-46874
chr1115622401562290E069-43537
chr1115623801562494E069-43333
chr1115626101563007E069-42820
chr1115630811563153E069-42674
chr1115632581563308E069-42519
chr1115636151563755E069-42072
chr1115701891571047E069-34780
chr1115710671571163E069-34664
chr1115748261575028E069-30799
chr1115751021575304E069-30523
chr1115764811576559E069-29268
chr1115789201579001E069-26826
chr1115791011580235E069-25592
chr1115802561581206E069-24621
chr1115812821582323E069-23504
chr1115851921586541E069-19286
chr1115865671586890E069-18937
chr1115869611587001E069-18826
chr1115870021587052E069-18775
chr1115871391587398E069-18429
chr1115875051587578E069-18249
chr1115876371587772E069-18055
chr1115878301588136E069-17691
chr1115881621588260E069-17567
chr1115883351589072E069-16755
chr1115891761589303E069-16524
chr1115893181591185E069-14642
chr1115588711558953E070-46874
chr1115789201579001E070-26826
chr1115791011580235E070-25592
chr1115802561581206E070-24621
chr1115851921586541E070-19286
chr1115891761589303E070-16524
chr1115579961558046E071-47781
chr1115580841558134E071-47693
chr1115581601558200E071-47627
chr1115586121558676E071-47151
chr1115587281558778E071-47049
chr1115617811561821E071-44006
chr1115622401562290E071-43537
chr1115623801562494E071-43333
chr1115626101563007E071-42820
chr1115630811563153E071-42674
chr1115632581563308E071-42519
chr1115636151563755E071-42072
chr1115638141563889E071-41938
chr1115639401563990E071-41837
chr1115701891571047E071-34780
chr1115710671571163E071-34664
chr1115802561581206E071-24621
chr1115812821582323E071-23504
chr1115851921586541E071-19286
chr1115865671586890E071-18937
chr1115869611587001E071-18826
chr1115870021587052E071-18775
chr1115871391587398E071-18429
chr1115875051587578E071-18249
chr1115876371587772E071-18055
chr1115878301588136E071-17691
chr1115881621588260E071-17567
chr1115883351589072E071-16755
chr1115891761589303E071-16524
chr1115893181591185E071-14642
chr1115564481556613E072-49214
chr1115566231556674E072-49153
chr1115622401562290E072-43537
chr1115623801562494E072-43333
chr1115626101563007E072-42820
chr1115630811563153E072-42674
chr1115632581563308E072-42519
chr1115701891571047E072-34780
chr1115710671571163E072-34664
chr1115737741574524E072-31303
chr1115789201579001E072-26826
chr1115791011580235E072-25592
chr1115802561581206E072-24621
chr1115812821582323E072-23504
chr1115837731584011E072-21816
chr1115840251584107E072-21720
chr1115842721584343E072-21484
chr1115844201584470E072-21357
chr1115844801584535E072-21292
chr1115845841584693E072-21134
chr1115847271584871E072-20956
chr1115849341585125E072-20702
chr1115851921586541E072-19286
chr1115865671586890E072-18937
chr1115869611587001E072-18826
chr1115870021587052E072-18775
chr1115871391587398E072-18429
chr1115875051587578E072-18249
chr1115876371587772E072-18055
chr1115878301588136E072-17691
chr1115881621588260E072-17567
chr1115883351589072E072-16755
chr1115891761589303E072-16524
chr1116104281610807E0724601
chr1116167391617410E07210912
chr1116176631618050E07211836
chr1116180951618238E07212268
chr1116183491618472E07212522
chr1116215341621616E07215707
chr1116218411621891E07216014
chr1116220231622097E07216196
chr1116221491622257E07216322
chr1115560271556201E073-49626
chr1115562021556238E073-49589
chr1115564481556613E073-49214
chr1115566231556674E073-49153
chr1115569091557006E073-48821
chr1115570451557896E073-47931
chr1115623801562494E073-43333
chr1115626101563007E073-42820
chr1115630811563153E073-42674
chr1115632581563308E073-42519
chr1115701891571047E073-34780
chr1115710671571163E073-34664
chr1115737741574524E073-31303
chr1115748261575028E073-30799
chr1115751021575304E073-30523
chr1115762491576464E073-29363
chr1115764811576559E073-29268
chr1115765901576649E073-29178
chr1115767431576949E073-28878
chr1115770131577188E073-28639
chr1115791011580235E073-25592
chr1115802561581206E073-24621
chr1115837731584011E073-21816
chr1115840251584107E073-21720
chr1115842721584343E073-21484
chr1115844201584470E073-21357
chr1115844801584535E073-21292
chr1115845841584693E073-21134
chr1115847271584871E073-20956
chr1115849341585125E073-20702
chr1115851921586541E073-19286
chr1115865671586890E073-18937
chr1115869611587001E073-18826
chr1115870021587052E073-18775
chr1115871391587398E073-18429
chr1115875051587578E073-18249
chr1115876371587772E073-18055
chr1115878301588136E073-17691
chr1115881621588260E073-17567
chr1115883351589072E073-16755
chr1115891761589303E073-16524
chr1115622401562290E074-43537
chr1115623801562494E074-43333
chr1115626101563007E074-42820
chr1115630811563153E074-42674
chr1115632581563308E074-42519
chr1115636151563755E074-42072
chr1115701891571047E074-34780
chr1115710671571163E074-34664
chr1115791011580235E074-25592
chr1115802561581206E074-24621
chr1115865671586890E074-18937
chr1115869611587001E074-18826
chr1115870021587052E074-18775
chr1115871391587398E074-18429
chr1115875051587578E074-18249
chr1115893181591185E074-14642
chr1115737741574524E081-31303
chr1115791011580235E081-25592
chr1115802561581206E081-24621
chr1115851921586541E081-19286
chr1115883351589072E081-16755
chr1115891761589303E081-16524
chr1115893181591185E081-14642
chr1115588711558953E082-46874
chr1115802561581206E082-24621
chr1115851921586541E082-19286
chr1115865671586890E082-18937
chr1115869611587001E082-18826
chr1115870021587052E082-18775
chr1115871391587398E082-18429
chr1115875051587578E082-18249
chr1115891761589303E082-16524










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1115671581569281E067-36546
chr1115930281596567E067-9260
chr1115930281596567E068-9260
chr1115930281596567E069-9260
chr1115930281596567E071-9260
chr1115671581569281E072-36546
chr1115930281596567E072-9260
chr1115671581569281E073-36546
chr1115930281596567E073-9260
chr1115671581569281E074-36546
chr1115930281596567E074-9260
chr1115930281596567E082-9260