rs1864982

Homo sapiens
G>T
PPP2R2B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0214 (6429/29910,GnomAD)
T=0265 (7734/29118,TOPMED)
T=0254 (1271/5008,1000G)
T=0127 (491/3854,ALSPAC)
T=0135 (499/3708,TWINSUK)
chr5:146941260 (GRCh38.p7) (5q32)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
128 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.146941260G>T
GRCh37.p13 chr 5NC_000005.9:g.146320823G>T
PPP2R2B RefSeqGeneNG_011570.1:g.145211C>A

Gene: PPP2R2B, protein phosphatase 2 regulatory subunit B, beta(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPP2R2B transcript variant 9NM_001271899.1:c.N/AIntron Variant
PPP2R2B transcript variant 8NM_001271900.1:c.N/AIntron Variant
PPP2R2B transcript variant 2NM_181674.2:c.N/AIntron Variant
PPP2R2B transcript variant 4NM_181676.2:c.N/AIntron Variant
PPP2R2B transcript variant 5NM_181677.2:c.N/AIntron Variant
PPP2R2B transcript variant 6NM_181678.2:c.N/AIntron Variant
PPP2R2B transcript variant 10NM_001271948.1:c.N/AGenic Upstream Transcript Variant
PPP2R2B transcript variant 3NM_181675.3:c.N/AGenic Upstream Transcript Variant
PPP2R2B transcript variant 11NR_073526.1:n.N/AGenic Upstream Transcript Variant
PPP2R2B transcript variant 12NR_073527.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.587T=0.413
1000GenomesAmericanSub694G=0.800T=0.200
1000GenomesEast AsianSub1008G=0.740T=0.260
1000GenomesEuropeSub1006G=0.885T=0.115
1000GenomesGlobalStudy-wide5008G=0.746T=0.254
1000GenomesSouth AsianSub978G=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.873T=0.127
The Genome Aggregation DatabaseAfricanSub8696G=0.621T=0.379
The Genome Aggregation DatabaseAmericanSub838G=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1596G=0.705T=0.295
The Genome Aggregation DatabaseEuropeSub18478G=0.870T=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.785T=0.214
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.734T=0.265
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.865T=0.135
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs18649823E-06alcohol dependence19581569

eQTL of rs1864982 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 rs1864982 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 )
chr5146286364146286429E067-34394
chr5146286470146286671E067-34152
chr5146299999146300095E067-20728
chr5146300154146300204E067-20619
chr5146324976146325187E0674153
chr5146325225146325550E0674402
chr5146325610146325710E0674787
chr5146326239146326351E0675416
chr5146326800146327037E0675977
chr5146327289146327339E0676466
chr5146342455146342653E06721632
chr5146342697146342787E06721874
chr5146345339146345461E06724516
chr5146345544146346032E06724721
chr5146346171146346221E06725348
chr5146347254146347487E06726431
chr5146271205146271315E068-49508
chr5146271511146271854E068-48969
chr5146271942146272075E068-48748
chr5146274798146274900E068-45923
chr5146289194146289372E068-31451
chr5146298995146299179E068-21644
chr5146299999146300095E068-20728
chr5146300154146300204E068-20619
chr5146300935146301139E068-19684
chr5146323729146323877E0682906
chr5146324976146325187E0684153
chr5146325225146325550E0684402
chr5146325610146325710E0684787
chr5146326239146326351E0685416
chr5146326800146327037E0685977
chr5146327289146327339E0686466
chr5146342455146342653E06821632
chr5146342697146342787E06821874
chr5146345339146345461E06824516
chr5146345544146346032E06824721
chr5146346171146346221E06825348
chr5146271205146271315E069-49508
chr5146271511146271854E069-48969
chr5146271942146272075E069-48748
chr5146289194146289372E069-31451
chr5146297427146297775E069-23048
chr5146323729146323877E0692906
chr5146324976146325187E0694153
chr5146325225146325550E0694402
chr5146325610146325710E0694787
chr5146326239146326351E0695416
chr5146326800146327037E0695977
chr5146327289146327339E0696466
chr5146345339146345461E06924516
chr5146345544146346032E06924721
chr5146346171146346221E06925348
chr5146347254146347487E06926431
chr5146325225146325550E0704402
chr5146325610146325710E0704787
chr5146326239146326351E0705416
chr5146345339146345461E07024516
chr5146345544146346032E07024721
chr5146271942146272075E071-48748
chr5146273662146273833E071-46990
chr5146274206146274722E071-46101
chr5146274798146274900E071-45923
chr5146289194146289372E071-31451
chr5146315856146315939E071-4884
chr5146319952146320194E071-629
chr5146323729146323877E0712906
chr5146324976146325187E0714153
chr5146325225146325550E0714402
chr5146325610146325710E0714787
chr5146326239146326351E0715416
chr5146326800146327037E0715977
chr5146342455146342653E07121632
chr5146342697146342787E07121874
chr5146343653146343697E07122830
chr5146345339146345461E07124516
chr5146345544146346032E07124721
chr5146346171146346221E07125348
chr5146347254146347487E07126431
chr5146274206146274722E072-46101
chr5146274798146274900E072-45923
chr5146299999146300095E072-20728
chr5146300154146300204E072-20619
chr5146324976146325187E0724153
chr5146325225146325550E0724402
chr5146325610146325710E0724787
chr5146326239146326351E0725416
chr5146326800146327037E0725977
chr5146327289146327339E0726466
chr5146345339146345461E07224516
chr5146345544146346032E07224721
chr5146346171146346221E07225348
chr5146347254146347487E07226431
chr5146274206146274722E073-46101
chr5146324976146325187E0734153
chr5146325225146325550E0734402
chr5146325610146325710E0734787
chr5146327289146327339E0736466
chr5146345339146345461E07324516
chr5146345544146346032E07324721
chr5146347254146347487E07326431
chr5146271942146272075E074-48748
chr5146274798146274900E074-45923
chr5146299999146300095E074-20728
chr5146300154146300204E074-20619
chr5146315856146315939E074-4884
chr5146317555146317614E074-3209
chr5146324976146325187E0744153
chr5146325225146325550E0744402
chr5146325610146325710E0744787
chr5146326239146326351E0745416
chr5146326800146327037E0745977
chr5146327289146327339E0746466
chr5146327401146327485E0746578
chr5146342455146342653E07421632
chr5146345339146345461E07424516
chr5146345544146346032E07424721
chr5146346171146346221E07425348
chr5146347254146347487E07426431
chr5146297427146297775E081-23048
chr5146298995146299179E081-21644
chr5146299999146300095E081-20728
chr5146300154146300204E081-20619
chr5146345339146345461E08124516
chr5146345544146346032E08124721
chr5146346171146346221E08125348
chr5146297427146297775E082-23048
chr5146345339146345461E08224516
chr5146345544146346032E08224721