rs12634678

Homo sapiens
T>G
CPNE4 : Intron Variant
LOC105374111 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0064 (1886/29118,TOPMED)
G=0113 (1952/17212,GnomAD)
G=0116 (583/5008,1000G)
chr3:132056472 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.132056472T>G
GRCh37.p13 chr 3NC_000003.11:g.131775316T>G

Gene: CPNE4, copine 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CPNE4 transcript variant 1NM_001289112.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant 3NM_130808.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant 2NM_153429.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X1XM_017005693.1:c.N/AIntron Variant
CPNE4 transcript variant X6XM_011512406.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X4XM_011512407.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X7XM_011512408.2:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X2XM_017005694.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X6XM_017005695.1:c.N/AGenic Upstream Transcript Variant
CPNE4 transcript variant X9XM_017005696.1:c.N/AGenic Upstream Transcript Variant

Gene: LOC105374111, uncharacterized LOC105374111(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374111 transcriptXR_924489.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.990G=0.010
1000GenomesAmericanSub694T=0.770G=0.230
1000GenomesEast AsianSub1008T=0.744G=0.256
1000GenomesEuropeSub1006T=0.924G=0.076
1000GenomesGlobalStudy-wide5008T=0.884G=0.116
1000GenomesSouth AsianSub978T=0.920G=0.080
The Genome Aggregation DatabaseAfricanSub5468T=0.952G=0.048
The Genome Aggregation DatabaseAmericanSub626T=0.730G=0.270
The Genome Aggregation DatabaseEast AsianSub1304T=0.707G=0.293
The Genome Aggregation DatabaseEuropeSub9676T=0.884G=0.116
The Genome Aggregation DatabaseGlobalStudy-wide17212T=0.886G=0.113
The Genome Aggregation DatabaseOtherSub138T=0.860G=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.935G=0.064
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
rs126346780.000119alcohol dependence21314694

eQTL of rs12634678 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 rs12634678 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 )
chr3131748475131748555E069-26761
chr3131789971131790220E06914655
chr3131756874131757345E081-17971
chr3131726362131726707E082-48609
chr3131728083131728437E082-46879
chr3131755968131756204E082-19112



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3131752209131752288E067-23028
chr3131752293131752483E067-22833
chr3131752711131752761E067-22555
chr3131752961131753310E067-22006
chr3131753328131754152E067-21164
chr3131753328131754152E068-21164
chr3131752293131752483E069-22833
chr3131752711131752761E069-22555
chr3131753328131754152E069-21164
chr3131752209131752288E070-23028
chr3131752293131752483E071-22833
chr3131752711131752761E071-22555
chr3131752293131752483E072-22833
chr3131752711131752761E072-22555
chr3131752961131753310E072-22006
chr3131753328131754152E072-21164
chr3131752209131752288E073-23028
chr3131752293131752483E073-22833
chr3131752711131752761E073-22555
chr3131752961131753310E073-22006
chr3131753328131754152E073-21164
chr3131753328131754152E074-21164
chr3131752209131752288E082-23028
chr3131752293131752483E082-22833