rs7276341

Homo sapiens
A>G
PCP4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0233 (6985/29922,GnomAD)
G=0233 (6784/29118,TOPMED)
G=0235 (1178/5008,1000G)
G=0217 (838/3854,ALSPAC)
G=0237 (879/3708,TWINSUK)
chr21:39915132 (GRCh38.p7) (21q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.39915132A>G
GRCh37.p13 chr 21NC_000021.8:g.41287057A>G

Gene: PCP4, Purkinje cell protein 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PCP4 transcriptNM_006198.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.733G=0.267
1000GenomesAmericanSub694A=0.740G=0.260
1000GenomesEast AsianSub1008A=0.735G=0.265
1000GenomesEuropeSub1006A=0.763G=0.237
1000GenomesGlobalStudy-wide5008A=0.765G=0.235
1000GenomesSouth AsianSub978A=0.860G=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.783G=0.217
The Genome Aggregation DatabaseAfricanSub8706A=0.745G=0.255
The Genome Aggregation DatabaseAmericanSub838A=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1620A=0.731G=0.269
The Genome Aggregation DatabaseEuropeSub18456A=0.781G=0.218
The Genome Aggregation DatabaseGlobalStudy-wide29922A=0.766G=0.233
The Genome Aggregation DatabaseOtherSub302A=0.730G=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.767G=0.233
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.763G=0.237
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
rs72763410.000698alcohol dependence21314694

eQTL of rs7276341 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 rs7276341 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 )
chr214125702941257425E067-29632
chr214125768441257734E067-29323
chr214128948241289572E0672425
chr214129053441290639E0673477
chr214129066341290731E0673606
chr214125702941257425E068-29632
chr214125744241257530E068-29527
chr214125768441257734E068-29323
chr214125999941260099E068-26958
chr214126020641260256E068-26801
chr214126039241260487E068-26570
chr214126059041260662E068-26395
chr214127651141276637E068-10420
chr214128948241289572E0682425
chr214129053441290639E0683477
chr214129066341290731E0683606
chr214129132341291373E0684266
chr214125702941257425E069-29632
chr214125744241257530E069-29527
chr214125768441257734E069-29323
chr214126020641260256E069-26801
chr214126039241260487E069-26570
chr214128557741286047E069-1010
chr214129053441290639E0693477
chr214124554741245597E070-41460
chr214125470541254774E070-32283
chr214126020641260256E070-26801
chr214126039241260487E070-26570
chr214126059041260662E070-26395
chr214129053441290639E0703477
chr214129066341290731E0703606
chr214129132341291373E0704266
chr214133584241335901E07048785
chr214133671141336761E07049654
chr214125702941257425E071-29632
chr214125744241257530E071-29527
chr214125768441257734E071-29323
chr214125955741259652E071-27405
chr214125999941260099E071-26958
chr214128948241289572E0712425
chr214131031741310456E07123260
chr214125744241257530E072-29527
chr214125768441257734E072-29323
chr214129053441290639E0723477
chr214129066341290731E0723606
chr214125702941257425E074-29632
chr214125744241257530E074-29527
chr214125768441257734E074-29323
chr214125999941260099E074-26958
chr214126020641260256E074-26801
chr214126039241260487E074-26570
chr214126059041260662E074-26395
chr214128948241289572E0742425
chr214123877041238925E081-48132
chr214123901241239109E081-47948
chr214123913841239483E081-47574
chr214132340941323901E08136352
chr214132391641323982E08136859
chr214132410341324302E08137046
chr214131031741310456E08223260
chr214131177441311824E08224717
chr214132340941323901E08236352
chr214132391641323982E08236859
chr214132410341324302E08237046









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr214123959941239720E067-47337
chr214123989441240032E067-47025
chr214123959941239720E068-47337
chr214123989441240032E068-47025
chr214124005641240373E068-46684
chr214124069341240785E068-46272
chr214124098141241021E068-46036
chr214124121241241364E068-45693
chr214124219141242241E068-44816
chr214124249341242543E068-44514
chr214124254441242641E068-44416
chr214124301541243100E068-43957
chr214123959941239720E070-47337
chr214123989441240032E070-47025
chr214124005641240373E070-46684
chr214124069341240785E070-46272
chr214124098141241021E070-46036
chr214124121241241364E070-45693
chr214123959941239720E071-47337
chr214123989441240032E071-47025
chr214124005641240373E071-46684
chr214124069341240785E073-46272
chr214124098141241021E073-46036
chr214124121241241364E073-45693
chr214124069341240785E081-46272
chr214123959941239720E082-47337