rs12267051

Homo sapiens
C>G / C>T
ZNF503 : Intron Variant
ZNF503-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0169 (5008/29532,GnomAD)
T=0181 (5289/29118,TOPMED)
T=0204 (1021/5008,1000G)
T=0164 (631/3854,ALSPAC)
T=0161 (597/3708,TWINSUK)
chr10:75346879 (GRCh38.p7) (10q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.75346879C>G
GRCh38.p7 chr 10NC_000010.11:g.75346879C>T
GRCh37.p13 chr 10NC_000010.10:g.77106637C>G
GRCh37.p13 chr 10NC_000010.10:g.77106637C>T

Gene: ZNF503, zinc finger protein 503(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF503 transcript variant 1NM_032772.5:c.N/AGenic Downstream Transcript Variant
ZNF503 transcript variant 2NR_120651.1:n.N/AIntron Variant

Gene: ZNF503-AS1, ZNF503 antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF503-AS1 transcript variant 1NR_038223.1:n.N/AIntron Variant
ZNF503-AS1 transcript variant 2NR_038224.1:n.N/AIntron Variant
ZNF503-AS1 transcript variant 3NR_038225.1:n.N/AIntron Variant
ZNF503-AS1 transcript variant 4NR_038226.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.779T=0.221
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.835T=0.165
1000GenomesEuropeSub1006C=0.847T=0.153
1000GenomesGlobalStudy-wide5008C=0.796T=0.204
1000GenomesSouth AsianSub978C=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.836T=0.164
The Genome Aggregation DatabaseAfricanSub8612C=0.790T=0.210
The Genome Aggregation DatabaseAmericanSub828C=0.870T=0.13,
The Genome Aggregation DatabaseEast AsianSub1614C=0.842T=0.158
The Genome Aggregation DatabaseEuropeSub18178C=0.847T=0.152
The Genome Aggregation DatabaseGlobalStudy-wide29532C=0.830T=0.169
The Genome Aggregation DatabaseOtherSub300C=0.760T=0.24,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.818T=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.839T=0.161
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs122670511.23E-05alcohol consumption23743675

eQTL of rs12267051 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 rs12267051 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 )
chr105069421250694280E06749737
chr105069432150694371E06749846
chr105061564450615980E070-28495
chr105061616150616211E070-28264
chr105061823750618341E070-26134
chr105061846950618986E070-25489
chr105064989350650088E0705418
chr105065020650650284E0705731
chr105065324150653372E0828766
chr105065348550653566E0829010
chr105065357150653650E0829096
chr105065370550653808E0829230
chr105065385950653899E0829384



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr105060520750606830E069-37645
chr105060520750606830E072-37645
chr105060520750606830E073-37645
chr105060383950603980E082-40495