rs7163869

Homo sapiens
G>C
C15orf53 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0247 (7423/29958,GnomAD)
C=0249 (7254/29118,TOPMED)
C=0193 (967/5008,1000G)
C=0312 (1203/3854,ALSPAC)
C=0316 (1171/3708,TWINSUK)
chr15:38696190 (GRCh38.p7) (15q14)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.38696190G>C
GRCh37.p13 chr 15NC_000015.9:g.38988391G>C

Gene: C15orf53, chromosome 15 open reading frame 53(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
C15orf53 transcriptNM_207444.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.828C=0.172
1000GenomesAmericanSub694G=0.750C=0.250
1000GenomesEast AsianSub1008G=0.901C=0.099
1000GenomesEuropeSub1006G=0.738C=0.262
1000GenomesGlobalStudy-wide5008G=0.807C=0.193
1000GenomesSouth AsianSub978G=0.800C=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.688C=0.312
The Genome Aggregation DatabaseAfricanSub8722G=0.808C=0.192
The Genome Aggregation DatabaseAmericanSub838G=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1622G=0.908C=0.092
The Genome Aggregation DatabaseEuropeSub18474G=0.713C=0.286
The Genome Aggregation DatabaseGlobalStudy-wide29958G=0.752C=0.247
The Genome Aggregation DatabaseOtherSub302G=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.750C=0.249
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.684C=0.316
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs71638699.32E-08alcohol dependence23089632

eQTL of rs7163869 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 rs7163869 in Fetal Brain

Probe ID Position Gene beta p-value
cg21039679chr15:38989738C15orf53-0.02688447685059417.6028e-16

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 )
chr153896065238961725E068-26666
chr153896065238961725E069-26666
chr153896065238961725E070-26666
chr153894079638940926E071-47465
chr153900002839001434E08111637
chr153900646639007349E08118075
chr153896051838960573E082-27818
chr153896065238961725E082-26666