rs529615

Homo sapiens
C>T
CEP70 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0443 (13266/29902,GnomAD)
T=0379 (11040/29118,TOPMED)
T=0463 (2319/5008,1000G)
C==0455 (1755/3854,ALSPAC)
C==0466 (1727/3708,TWINSUK)
chr3:138594992 (GRCh38.p7) (3q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.138594992C>T
GRCh37.p13 chr 3NC_000003.11:g.138313834C>T

Gene: CEP70, centrosomal protein 70(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
CEP70 transcript variant 2NM_001288964.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant 3NM_001288965.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant 4NM_001288966.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant 5NM_001288967.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant 6NM_001320598.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant 7NM_001320599.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant 1NM_024491.3:c.N/AUpstream Transcript Variant
CEP70 transcript variant 8NM_001320600.1:c.N/AN/A
CEP70 transcript variant X2XM_017007271.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X3XM_017007272.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X4XM_017007273.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X5XM_017007274.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X7XM_017007275.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X9XM_017007277.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X10XM_017007278.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X12XM_017007279.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X13XM_017007280.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X15XM_017007282.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X16XM_017007283.1:c.N/AUpstream Transcript Variant
CEP70 transcript variant X6XM_005247805.3:c.N/AN/A
CEP70 transcript variant X11XM_011513209.2:c.N/AN/A
CEP70 transcript variant X1XM_017007270.1:c.N/AN/A
CEP70 transcript variant X8XM_017007276.1:c.N/AN/A
CEP70 transcript variant X14XM_017007281.1:c.N/AN/A
CEP70 transcript variant X17XM_017007284.1:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.834T=0.166
1000GenomesAmericanSub694C=0.360T=0.640
1000GenomesEast AsianSub1008C=0.450T=0.550
1000GenomesEuropeSub1006C=0.495T=0.505
1000GenomesGlobalStudy-wide5008C=0.537T=0.463
1000GenomesSouth AsianSub978C=0.390T=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.455T=0.545
The Genome Aggregation DatabaseAfricanSub8700C=0.800T=0.200
The Genome Aggregation DatabaseAmericanSub834C=0.300T=0.700
The Genome Aggregation DatabaseEast AsianSub1616C=0.413T=0.587
The Genome Aggregation DatabaseEuropeSub18450C=0.464T=0.535
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.556T=0.443
The Genome Aggregation DatabaseOtherSub302C=0.590T=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.620T=0.379
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.466T=0.534
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
rs5296150.000282alcohol dependence21314694

eQTL of rs529615 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:138313834FAIMENSG00000158234.8C>T4.6517e-4-13617Cerebellum
Chr3:138313834FAIMENSG00000158234.8C>T2.6244e-4-13617Frontal_Cortex_BA9
Chr3:138313834FAIMENSG00000158234.8C>T1.7968e-3-13617Cortex

meQTL of rs529615 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 )
chr3138298111138298277E067-15557
chr3138298436138298651E067-15183
chr3138297917138298102E068-15732
chr3138298111138298277E068-15557
chr3138298436138298651E068-15183
chr3138345468138345574E06831634
chr3138298436138298651E069-15183
chr3138337354138337920E06923520
chr3138344637138345252E06930803
chr3138310285138310847E070-2987
chr3138311268138311337E070-2497
chr3138311483138311532E070-2302
chr3138330425138330475E07016591
chr3138311268138311337E071-2497
chr3138311483138311532E071-2302
chr3138344637138345252E07130803
chr3138345468138345574E07131634
chr3138298111138298277E072-15557
chr3138345468138345574E07231634
chr3138297653138297823E074-16011
chr3138297917138298102E074-15732
chr3138298111138298277E074-15557
chr3138298436138298651E074-15183
chr3138337354138337920E07423520
chr3138344637138345252E07430803
chr3138345468138345574E07431634
chr3138311268138311337E081-2497
chr3138311483138311532E081-2302
chr3138311268138311337E082-2497
chr3138311483138311532E082-2302









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3138312347138314055E0670
chr3138327089138328946E06713255
chr3138312347138314055E0680
chr3138327089138328946E06813255
chr3138312347138314055E0690
chr3138327089138328946E06913255
chr3138312347138314055E0700
chr3138327089138328946E07013255
chr3138312347138314055E0710
chr3138327089138328946E07113255
chr3138312347138314055E0720
chr3138327089138328946E07213255
chr3138312347138314055E0730
chr3138327089138328946E07313255
chr3138312347138314055E0740
chr3138327089138328946E07413255
chr3138312347138314055E0810
chr3138312347138314055E0820
chr3138327089138328946E08213255