rs10133292

Homo sapiens
T>C
C14orf79 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0253 (7595/29928,GnomAD)
C=0307 (8954/29118,TOPMED)
C=0303 (1516/5008,1000G)
C=0118 (453/3854,ALSPAC)
C=0124 (459/3708,TWINSUK)
chr14:104990824 (GRCh38.p7) (14q32.33)
AD
GWASdb2
1   publication(s)
See rs on genome
106 Enhancers around
22 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.104990824T>C
GRCh37.p13 chr 14NC_000014.8:g.105457161T>C

Gene: C14orf79, chromosome 14 open reading frame 79(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CLBA1 transcriptNM_174891.3:c.N/AIntron Variant
C14orf79 transcript variant X1XM_005267317.3:c.N/AIntron Variant
C14orf79 transcript variant X2XM_005267318.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.421C=0.579
1000GenomesAmericanSub694T=0.770C=0.230
1000GenomesEast AsianSub1008T=0.746C=0.254
1000GenomesEuropeSub1006T=0.845C=0.155
1000GenomesGlobalStudy-wide5008T=0.697C=0.303
1000GenomesSouth AsianSub978T=0.810C=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.882C=0.118
The Genome Aggregation DatabaseAfricanSub8708T=0.504C=0.496
The Genome Aggregation DatabaseAmericanSub838T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1614T=0.770C=0.230
The Genome Aggregation DatabaseEuropeSub18466T=0.853C=0.146
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.746C=0.253
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.692C=0.307
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.876C=0.124
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs101332920.000349alcohol dependence21314694

eQTL of rs10133292 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr14:105457161C14orf79ENSG00000140104.9T>C2.6561e-145049Frontal_Cortex_BA9
Chr14:105457161C14orf79ENSG00000140104.9T>C4.7616e-175049Cortex
Chr14:105457161C14orf79ENSG00000140104.9T>C6.5384e-95049Cerebellar_Hemisphere
Chr14:105457161C14orf79ENSG00000140104.9T>C6.9357e-185049Caudate_basal_ganglia
Chr14:105457161C14orf79ENSG00000140104.9T>C1.2262e-55049Substantia_nigra
Chr14:105457161C14orf79ENSG00000140104.9T>C8.8368e-115049Anterior_cingulate_cortex
Chr14:105457161C14orf79ENSG00000140104.9T>C3.2792e-95049Nucleus_accumbens_basal_ganglia

meQTL of rs10133292 in Fetal Brain

Probe ID Position Gene beta p-value
cg20070837chr14:105457758C14orf79-0.05292061169964284.7665e-14
cg11481687chr14:1054999980.03690103767486976.0673e-13

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 )
chr14105441771105441859E067-15302
chr14105448102105448873E067-8288
chr14105448905105448995E067-8166
chr14105453313105453420E067-3741
chr14105488727105488881E06731566
chr14105433495105435865E068-21296
chr14105438502105440901E068-16260
chr14105440956105441087E068-16074
chr14105453313105453420E068-3741
chr14105453477105453547E068-3614
chr14105453591105453679E068-3482
chr14105453790105453858E068-3303
chr14105479319105479787E06822158
chr14105453313105453420E069-3741
chr14105438502105440901E070-16260
chr14105440956105441087E070-16074
chr14105448102105448873E070-8288
chr14105453313105453420E070-3741
chr14105453477105453547E070-3614
chr14105453591105453679E070-3482
chr14105453790105453858E070-3303
chr14105478634105479061E07021473
chr14105479066105479198E07021905
chr14105479319105479787E07022158
chr14105479891105480057E07022730
chr14105480175105480615E07023014
chr14105480641105480853E07023480
chr14105481115105481297E07023954
chr14105481308105481392E07024147
chr14105481505105481854E07024344
chr14105481871105481982E07024710
chr14105481999105482063E07024838
chr14105482390105482490E07025229
chr14105482550105482643E07025389
chr14105482723105482804E07025562
chr14105482900105483583E07025739
chr14105432809105432863E071-24298
chr14105433005105433073E071-24088
chr14105448102105448873E071-8288
chr14105453313105453420E071-3741
chr14105453477105453547E071-3614
chr14105453591105453679E071-3482
chr14105479319105479787E07122158
chr14105479891105480057E07122730
chr14105485409105485517E07128248
chr14105433495105435865E072-21296
chr14105441771105441859E072-15302
chr14105448102105448873E072-8288
chr14105448905105448995E072-8166
chr14105449041105449122E072-8039
chr14105449133105449378E072-7783
chr14105433495105435865E073-21296
chr14105438502105440901E073-16260
chr14105440956105441087E073-16074
chr14105441178105441379E073-15782
chr14105441405105441487E073-15674
chr14105441505105441614E073-15547
chr14105441625105441731E073-15430
chr14105441771105441859E073-15302
chr14105447864105448023E073-9138
chr14105448102105448873E073-8288
chr14105488727105488881E07331566
chr14105448102105448873E074-8288
chr14105448905105448995E074-8166
chr14105453313105453420E074-3741
chr14105479319105479787E07422158
chr14105453313105453420E081-3741
chr14105453477105453547E081-3614
chr14105453591105453679E081-3482
chr14105453790105453858E081-3303
chr14105478413105478483E08121252
chr14105478634105479061E08121473
chr14105479066105479198E08121905
chr14105479319105479787E08122158
chr14105479891105480057E08122730
chr14105480175105480615E08123014
chr14105480641105480853E08123480
chr14105481115105481297E08123954
chr14105481308105481392E08124147
chr14105481505105481854E08124344
chr14105481871105481982E08124710
chr14105481999105482063E08124838
chr14105482390105482490E08125229
chr14105484879105484929E08127718
chr14105484938105484991E08127777
chr14105484998105485113E08127837
chr14105485409105485517E08128248
chr14105496762105496860E08139601
chr14105453313105453420E082-3741
chr14105453477105453547E082-3614
chr14105453591105453679E082-3482
chr14105453790105453858E082-3303
chr14105478139105478351E08220978
chr14105478413105478483E08221252
chr14105478634105479061E08221473
chr14105479066105479198E08221905
chr14105479319105479787E08222158
chr14105479891105480057E08222730
chr14105480175105480615E08223014
chr14105480641105480853E08223480
chr14105481115105481297E08223954
chr14105481308105481392E08224147
chr14105481505105481854E08224344
chr14105484879105484929E08227718
chr14105484938105484991E08227777
chr14105484998105485113E08227837










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr14105451811105453272E067-3889
chr14105486233105488504E06729072
chr14105451811105453272E068-3889
chr14105486233105488504E06829072
chr14105451811105453272E069-3889
chr14105486233105488504E06929072
chr14105451811105453272E070-3889
chr14105486233105488504E07029072
chr14105451811105453272E071-3889
chr14105486233105488504E07129072
chr14105499916105500502E07142755
chr14105451811105453272E072-3889
chr14105486233105488504E07229072
chr14105499916105500502E07242755
chr14105451811105453272E073-3889
chr14105486233105488504E07329072
chr14105499916105500502E07342755
chr14105451811105453272E074-3889
chr14105486233105488504E07429072
chr14105486233105488504E08129072
chr14105451811105453272E082-3889
chr14105486233105488504E08229072