rs16859614

Homo sapiens
C>T
COX7B2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0076 (2301/29946,GnomAD)
T=0091 (2657/29118,TOPMED)
T=0082 (409/5008,1000G)
T=0027 (104/3854,ALSPAC)
T=0026 (98/3708,TWINSUK)
chr4:46892510 (GRCh38.p7) (4p12)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.46892510C>T
GRCh37.p13 chr 4NC_000004.11:g.46894527C>T

Gene: COX7B2, cytochrome c oxidase subunit 7B2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COX7B2 transcriptNM_130902.2:c.N/AIntron Variant
COX7B2 transcript variant X1XM_011513630.2:c.N/AIntron Variant
COX7B2 transcript variant X2XM_011513631.2:c.N/AIntron Variant
COX7B2 transcript variant X3XM_011513632.2:c.N/AIntron Variant
COX7B2 transcript variant X4XM_011513633.2:c.N/AIntron Variant
COX7B2 transcript variant X5XM_011513634.2:c.N/AIntron Variant
COX7B2 transcript variant X6XM_011513635.2:c.N/AIntron Variant
COX7B2 transcript variant X7XM_011513637.2:c.N/AIntron Variant
COX7B2 transcript variant X9XM_011513638.2:c.N/AIntron Variant
COX7B2 transcript variant X10XM_005248056.4:c.N/AGenic Upstream Transcript Variant
COX7B2 transcript variant X8XM_011513636.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.807T=0.193
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=0.917T=0.083
1000GenomesEuropeSub1006C=0.968T=0.032
1000GenomesGlobalStudy-wide5008C=0.918T=0.082
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.973T=0.027
The Genome Aggregation DatabaseAfricanSub8716C=0.824T=0.176
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1612C=0.939T=0.061
The Genome Aggregation DatabaseEuropeSub18482C=0.965T=0.034
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.923T=0.076
The Genome Aggregation DatabaseOtherSub298C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.908T=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.974T=0.026
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs168596146.86E-05alcohol consumption23953852

eQTL of rs16859614 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 rs16859614 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 )
chr44684927246849430E081-45097
chr44684968046849805E081-44722

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr44684645746846684E072-47843