rs11000671

Homo sapiens
C>T
PPP3CB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0148 (4427/29862,GnomAD)
T=0183 (5345/29118,TOPMED)
T=0223 (1118/5008,1000G)
T=0061 (236/3854,ALSPAC)
T=0059 (219/3708,TWINSUK)
chr10:73480219 (GRCh38.p7) (10q22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
47 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.73480219C>T
GRCh37.p13 chr 10NC_000010.10:g.75239977C>T

Gene: PPP3CB, protein phosphatase 3 catalytic subunit beta(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPP3CB transcript variant 1NM_001142353.2:c.N/AIntron Variant
PPP3CB transcript variant 3NM_001142354.2:c.N/AIntron Variant
PPP3CB transcript variant 4NM_001289968.1:c.N/AIntron Variant
PPP3CB transcript variant 5NM_001289969.1:c.N/AIntron Variant
PPP3CB transcript variant 2NM_021132.3:c.N/AIntron Variant
PPP3CB transcript variant X1XM_005269944.1:c.N/AIntron Variant
PPP3CB transcript variant X2XM_017016379.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.662T=0.338
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.699T=0.301
1000GenomesEuropeSub1006C=0.935T=0.065
1000GenomesGlobalStudy-wide5008C=0.777T=0.223
1000GenomesSouth AsianSub978C=0.770T=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.939T=0.061
The Genome Aggregation DatabaseAfricanSub8684C=0.694T=0.306
The Genome Aggregation DatabaseAmericanSub836C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1618C=0.695T=0.305
The Genome Aggregation DatabaseEuropeSub18422C=0.936T=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29862C=0.851T=0.148
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.816T=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.941T=0.059
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs110006711.02E-05alcohol and nictotine co-dependence20158304

eQTL of rs11000671 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr10:75239977RP11-344N10.5ENSG00000272630.1C>T3.3866e-6378922Cerebellum
Chr10:75239977TTC18ENSG00000156042.13C>T3.0703e-7121360Cerebellum
Chr10:75239977NUDT13ENSG00000166321.9C>T3.6929e-9369760Hypothalamus
Chr10:75239977RP11-344N10.5ENSG00000272630.1C>T8.3745e-5378922Cerebellar_Hemisphere
Chr10:75239977NUDT13ENSG00000166321.9C>T1.8918e-5369760Cerebellar_Hemisphere
Chr10:75239977FAM149B1ENSG00000138286.10C>T5.9298e-6312053Cerebellar_Hemisphere
Chr10:75239977ECDENSG00000122882.6C>T1.2869e-4311164Cerebellar_Hemisphere
Chr10:75239977TTC18ENSG00000156042.13C>T4.0000e-6121360Cerebellar_Hemisphere
Chr10:75239977NUDT13ENSG00000166321.9C>T4.0737e-6369760Caudate_basal_ganglia
Chr10:75239977NUDT13ENSG00000166321.9C>T1.8681e-6369760Hippocampus
Chr10:75239977NUDT13ENSG00000166321.9C>T1.3708e-4369760Substantia_nigra
Chr10:75239977NUDT13ENSG00000166321.9C>T5.7012e-6369760Putamen_basal_ganglia
Chr10:75239977NUDT13ENSG00000166321.9C>T8.1676e-6369760Nucleus_accumbens_basal_ganglia

meQTL of rs11000671 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 )
chr107525677975256836E06716802
chr107525695275257207E06716975
chr107525740975257478E06717432
chr107525757375257649E06717596
chr107528882575288937E06748848
chr107528893975289659E06748962
chr107525240475252454E06812427
chr107525249475252584E06812517
chr107525300575253055E06813028
chr107525309775253188E06813120
chr107525335875253420E06813381
chr107525677975256836E06916802
chr107525695275257207E06916975
chr107528882575288937E06948848
chr107525240475252454E07012427
chr107525249475252584E07012517
chr107525261475252664E07012637
chr107525300575253055E07013028
chr107525309775253188E07013120
chr107525335875253420E07013381
chr107524516175245400E0715184
chr107524550675245560E0715529
chr107524984275249938E0719865
chr107524997975250059E07110002
chr107525019975250483E07110222
chr107525261475252664E07112637
chr107525300575253055E07113028
chr107525309775253188E07113120
chr107525335875253420E07113381
chr107525677975256836E07116802
chr107525695275257207E07116975
chr107528882575288937E07148848
chr107528893975289659E07148962
chr107525677975256836E07216802
chr107528893975289659E07248962
chr107525335875253420E07313381
chr107524516175245400E0745184
chr107525300575253055E07413028
chr107525309775253188E07413120
chr107525335875253420E07413381
chr107525677975256836E07416802
chr107528893975289659E07448962
chr107525122375251273E08111246
chr107525261475252664E08112637
chr107525300575253055E08113028
chr107525309775253188E08113120
chr107525335875253420E08113381









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr107525453675256706E06714559
chr107525453675256706E06814559
chr107525453675256706E06914559
chr107525453675256706E07014559
chr107525453675256706E07114559
chr107525453675256706E07214559
chr107525453675256706E07314559
chr107525453675256706E07414559
chr107525453675256706E08114559
chr107525453675256706E08214559