rs7589114

Homo sapiens
C>T
PARD3B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0312 (9347/29936,GnomAD)
T=0300 (8743/29118,TOPMED)
T=0174 (873/5008,1000G)
T=0360 (1386/3854,ALSPAC)
T=0357 (1322/3708,TWINSUK)
chr2:204911060 (GRCh38.p7) (2q33.3)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.204911060C>T
GRCh37.p13 chr 2NC_000002.11:g.205775783C>T

Gene: PARD3B, par-3 family cell polarity regulator beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PARD3B transcript variant 1NM_001302769.1:c.N/AIntron Variant
PARD3B transcript variant 3NM_057177.6:c.N/AIntron Variant
PARD3B transcript variant 2NM_152526.5:c.N/AIntron Variant
PARD3B transcript variant 4NM_205863.3:c.N/AIntron Variant
PARD3B transcript variant X1XM_011510552.2:c.N/AIntron Variant
PARD3B transcript variant X13XM_011510553.2:c.N/AIntron Variant
PARD3B transcript variant X4XM_017003285.1:c.N/AIntron Variant
PARD3B transcript variant X6XM_017003287.1:c.N/AIntron Variant
PARD3B transcript variant X7XM_017003288.1:c.N/AIntron Variant
PARD3B transcript variant X9XM_017003290.1:c.N/AIntron Variant
PARD3B transcript variant X10XM_017003291.1:c.N/AIntron Variant
PARD3B transcript variant X11XM_017003292.1:c.N/AIntron Variant
PARD3B transcript variant X14XM_017003294.1:c.N/AIntron Variant
PARD3B transcript variant X3XM_017003284.1:c.N/A5 Prime UTR Variant
PARD3B transcript variant X5XM_017003286.1:c.N/A5 Prime UTR Variant
PARD3B transcript variant X2XM_017003283.1:c.N/AGenic Upstream Transcript Variant
PARD3B transcript variant X8XM_017003289.1:c.N/AGenic Upstream Transcript Variant
PARD3B transcript variant X12XM_017003293.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.748T=0.252
1000GenomesAmericanSub694C=0.780T=0.220
1000GenomesEast AsianSub1008C=0.995T=0.005
1000GenomesEuropeSub1006C=0.696T=0.304
1000GenomesGlobalStudy-wide5008C=0.826T=0.174
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.640T=0.360
The Genome Aggregation DatabaseAfricanSub8718C=0.732T=0.268
The Genome Aggregation DatabaseAmericanSub838C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1614C=0.992T=0.008
The Genome Aggregation DatabaseEuropeSub18464C=0.635T=0.364
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.687T=0.312
The Genome Aggregation DatabaseOtherSub302C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.699T=0.300
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.643T=0.357
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
rs75891145.13E-05alcohol consumption23743675

eQTL of rs7589114 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 rs7589114 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 )
chr2205734869205734991E067-40792
chr2205746558205746763E068-29020
chr2205823195205823282E06847412
chr2205746351205746497E070-29286
chr2205746558205746763E070-29020
chr2205769889205770018E070-5765
chr2205770531205770619E070-5164
chr2205771063205771355E070-4428
chr2205740784205741452E081-34331
chr2205746351205746497E081-29286
chr2205746558205746763E081-29020
chr2205798799205798863E08223016