rs2362267

Homo sapiens
G>A / G>T
CNGB3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0190 (5709/29900,GnomAD)
G==0200 (5840/29118,TOPMED)
G==0189 (947/5008,1000G)
G==0123 (475/3854,ALSPAC)
G==0125 (463/3708,TWINSUK)
chr8:86614235 (GRCh38.p7) (8q21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
119 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.86614235G>A
GRCh38.p7 chr 8NC_000008.11:g.86614235G>T
GRCh37.p13 chr 8NC_000008.10:g.87626463G>A
GRCh37.p13 chr 8NC_000008.10:g.87626463G>T
CNGB3 RefSeqGeneNG_016980.1:g.134441C>T
CNGB3 RefSeqGeneNG_016980.1:g.134441C>A

Gene: CNGB3, cyclic nucleotide gated channel beta 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CNGB3 transcriptNM_019098.4:c.N/AIntron Variant
CNGB3 transcript variant X1XM_011517138.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.314A=0.003
1000GenomesAmericanSub694G=0.150A=0.00,
1000GenomesEast AsianSub1008G=0.174A=0.000
1000GenomesEuropeSub1006G=0.139A=0.000
1000GenomesGlobalStudy-wide5008G=0.189A=0.001
1000GenomesSouth AsianSub978G=0.120A=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.123T=0.877
The Genome Aggregation DatabaseAfricanSub8696G=0.300T=0.697
The Genome Aggregation DatabaseAmericanSub838G=0.140T=0.86,
The Genome Aggregation DatabaseEast AsianSub1614G=0.129T=0.871
The Genome Aggregation DatabaseEuropeSub18450G=0.148T=0.851
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.190T=0.808
The Genome Aggregation DatabaseOtherSub302G=0.100T=0.90,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.200T=0.799
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.125T=0.875
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
rs23622675.75E-05alcohol and nictotine co-dependence20158304

eQTL of rs2362267 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 rs2362267 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 )
chr84151709141517359E067-39969
chr84152628141526534E067-30794
chr84152654941527187E067-30141
chr84160365241603796E06746324
chr84160379741604347E06746469
chr84151647941517054E068-40274
chr84156976841571782E06812440
chr84151647941517054E069-40274
chr84151709141517359E069-39969
chr84151739641518452E069-38876
chr84152654941527187E069-30141
chr84156976841571782E06912440
chr84158881341589115E06931485
chr84151709141517359E070-39969
chr84156976841571782E07012440
chr84157485241575027E07017524
chr84157510841575162E07017780
chr84157527241575802E07017944
chr84157591341575963E07018585
chr84159154041591621E07034212
chr84159164141591837E07034313
chr84159184741591900E07034519
chr84159203141592081E07034703
chr84159215941592209E07034831
chr84159254741592933E07035219
chr84159297541593237E07035647
chr84159339041593475E07036062
chr84159359041594382E07036262
chr84159454141594591E07037213
chr84151739641518452E071-38876
chr84152628141526534E071-30794
chr84152654941527187E071-30141
chr84157434541574445E07117017
chr84157485241575027E07117524
chr84157510841575162E07117780
chr84159359041594382E07136262
chr84151739641518452E072-38876
chr84152654941527187E072-30141
chr84156976841571782E07212440
chr84157434541574445E07217017
chr84157445441574508E07217126
chr84157461541574665E07217287
chr84157468641574799E07217358
chr84157485241575027E07217524
chr84157510841575162E07217780
chr84151647941517054E073-40274
chr84151709141517359E073-39969
chr84151739641518452E073-38876
chr84156976841571782E07312440
chr84157343141574198E07316103
chr84157434541574445E07317017
chr84157445441574508E07317126
chr84157461541574665E07317287
chr84157468641574799E07317358
chr84151647941517054E074-40274
chr84151709141517359E074-39969
chr84151739641518452E074-38876
chr84151647941517054E081-40274
chr84151709141517359E081-39969
chr84151739641518452E081-38876
chr84156795241568064E08110624
chr84156814241568356E08110814
chr84156868941568739E08111361
chr84156899041569095E08111662
chr84156976841571782E08112440
chr84157434541574445E08117017
chr84157445441574508E08117126
chr84157461541574665E08117287
chr84157468641574799E08117358
chr84157485241575027E08117524
chr84157510841575162E08117780
chr84157809941578351E08120771
chr84157835941578460E08121031
chr84157855841578619E08121230
chr84158881341589115E08131485
chr84158914641589406E08131818
chr84158958941589655E08132261
chr84159203141592081E08134703
chr84159215941592209E08134831
chr84159254741592933E08135219
chr84159297541593237E08135647
chr84159339041593475E08136062
chr84159359041594382E08136262
chr84159454141594591E08137213
chr84159500141595041E08137673
chr84159827241598505E08140944
chr84159903541599156E08141707
chr84159916441599204E08141836
chr84159934741599578E08142019
chr84159959941599930E08142271
chr84160034741600407E08143019
chr84160057641600636E08143248
chr84160078441600854E08143456
chr84160114841601241E08143820
chr84160365241603796E08146324
chr84160379741604347E08146469
chr84160442941605146E08147101
chr84160519241605707E08147864
chr84160576941605864E08148441
chr84160602041606289E08148692
chr84155553141555581E082-1747
chr84156795241568064E08210624
chr84156814241568356E08210814
chr84156976841571782E08212440
chr84157434541574445E08217017
chr84157445441574508E08217126
chr84157461541574665E08217287
chr84157468641574799E08217358
chr84157485241575027E08217524
chr84158840041588469E08231072
chr84158881341589115E08231485
chr84159215941592209E08234831
chr84159254741592933E08235219
chr84159297541593237E08235647
chr84159339041593475E08236062
chr84160365241603796E08246324
chr84160379741604347E08246469
chr84160442941605146E08247101
chr84160519241605707E08247864










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr84151085741512315E068-45013
chr84151085741512315E069-45013
chr84151085741512315E072-45013
chr84151085741512315E073-45013
chr84151085741512315E074-45013
chr84151085741512315E082-45013