rs2236196

Homo sapiens
G>A
CHRNA4 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0359 (10748/29910,GnomAD)
G==0440 (12825/29118,TOPMED)
G==0374 (4044/10800,ExAC)
G==0386 (1932/5008,1000G)
G==0238 (916/3854,ALSPAC)
G==0241 (893/3708,TWINSUK)
chr20:63346204 (GRCh38.p7) (20q13.33)
ND
GWASdb2
34   publication(s)
See rs on genome
346 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.63346204G>A
GRCh37.p13 chr 20NC_000020.10:g.61977556G>A
CHRNA4 RefSeqGeneNG_011931.1:g.20140C>T

Gene: CHRNA4, cholinergic receptor nicotinic alpha 4 subunit(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CHRNA4 transcript variant 1NM_000744.6:c.N/A3 Prime UTR Variant
CHRNA4 transcript variant 2NM_001256573.1:c.N/A3 Prime UTR Variant
CHRNA4 transcript variant 3NR_046317.1:n.267...NR_046317.1:n.2674C>TC>TNon Coding Transcript Variant
CHRNA4 transcript variant X1XM_011528524.1:c.N/A3 Prime UTR Variant
CHRNA4 transcript variant X2XM_017027624.1:c.N/A3 Prime UTR Variant
CHRNA4 transcript variant X3XM_017027625.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.713A=0.287
1000GenomesAmericanSub694G=0.260A=0.740
1000GenomesEast AsianSub1008G=0.116A=0.884
1000GenomesEuropeSub1006G=0.269A=0.731
1000GenomesGlobalStudy-wide5008G=0.386A=0.614
1000GenomesSouth AsianSub978G=0.430A=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.238A=0.762
The Exome Aggregation ConsortiumAmericanSub284G=0.510A=0.490
The Exome Aggregation ConsortiumAsianSub7630G=0.374A=0.626
The Exome Aggregation ConsortiumEuropeSub2768G=0.366A=0.634
The Exome Aggregation ConsortiumGlobalStudy-wide10800G=0.374A=0.625
The Exome Aggregation ConsortiumOtherSub118G=0.260A=0.740
The Genome Aggregation DatabaseAfricanSub8716G=0.631A=0.369
The Genome Aggregation DatabaseAmericanSub838G=0.210A=0.790
The Genome Aggregation DatabaseEast AsianSub1620G=0.136A=0.864
The Genome Aggregation DatabaseEuropeSub18434G=0.256A=0.743
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.359A=0.640
The Genome Aggregation DatabaseOtherSub302G=0.390A=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.440A=0.559
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.241A=0.759
PMID Title Author Journal
25819021A review of pharmacogenetic studies of substance-related disorders.Jones JDDrug Alcohol Depend
21079997Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence.Culverhouse RCHum Genet
27827986Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence.Zuo LGenes (Basel)
20624154Incorporating age at onset of smoking into genetic models for nicotine dependence: evidence for interaction with multiple genes.Grucza RAAddict Biol
22103610Biomarkers to optimize the treatment of nicotine dependence.Schnoll RABiomark Med
20854418CHRNB2 promoter region: association with subjective effects to nicotine and gene expression differences.Hoft NRGenes Brain Behav
17768273CHRNA4 and tobacco dependence: from gene regulation to treatment outcome.Hutchison KEArch Gen Psychiatry
26598068Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate.Mastronardi CAMol Psychiatry
18165968Identification of pharmacogenetic markers in smoking cessation therapy.Heitjan DFAm J Med Genet B Neuropsychiatr Genet
19693267Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.Roe BEPLoS One
18593715Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.Conti DVHum Mol Genet
22048466Smoking cessation pharmacogenetics: analysis of varenicline and bupropion in placebo-controlled clinical trials.King DPNeuropsychopharmacology
18618000A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.Weiss RBPLoS Genet
18571741Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.Portugal GSBehav Brain Res
20942817Pharmacogenetics of new analgesics.Lotsch JBr J Pharmacol
17503330A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.Lou XYAm J Hum Genet
19482438Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence.Etter JFAddict Behav
22290489Pharmacogenetics of smoking cessation: role of nicotine target and metabolism genes.Gold ABHum Genet
26044620Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.Reyes-Gibby CCBMC Syst Biol
22180580Association between nicotinic acetylcholine receptor single nucleotide polymorphisms and smoking cessation.Spruell TNicotine Tob Res
19290018Association of nicotinic acetylcholine receptor subunit alpha 4 polymorphisms with nicotine dependence in 5500 Germans.Breitling LPPharmacogenomics J
27166759Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.Yang JMol Psychiatry
19238175New insights into the genetics of addiction.Li MDNat Rev Genet
23691092Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.Eicher JDPLoS One
15154117A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men.Feng YAm J Hum Genet
25036316Joint association of nicotinic acetylcholine receptor variants with abdominal obesity in American Indians: the Strong Heart Family Study.Zhu YPLoS One
17135278Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.Saccone SFHum Mol Genet
20584212Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.Saccone NLGenes Brain Behav
22309839Association study of 45 candidate genes in nicotine dependence in Han Chinese.Wei JAddict Behav
18534558Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence.Li MDBiol Psychiatry
19029397Nicotinic receptor gene variants influence susceptibility to heavy smoking.Stevens VLCancer Epidemiol Biomarkers Prev
21445957Association of CHRNA4 polymorphisms with smoking behavior in two populations.Han SAm J Med Genet B Neuropsychiatr Genet
18698231Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.Johnson ADPharmacogenet Genomics
19259974Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.Saccone NLAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs22361960.001Drug response to nicotine19290018

eQTL of rs2236196 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 rs2236196 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 )
chr206194068261941468E067-36088
chr206195227761952368E067-25188
chr206195310661953152E067-24404
chr206196957661969656E067-7900
chr206198329661984177E0675740
chr206198423761984327E0676681
chr206198451061984601E0676954
chr206198463761984718E0677081
chr206198485561984906E0677299
chr206198917761989713E06711621
chr206198971461989994E06712158
chr206199017161990211E06712615
chr206200186262003060E06724306
chr206200842062008460E06730864
chr206200858362009798E06731027
chr206202528962026136E06747733
chr206192796661928173E068-49383
chr206192821961928550E068-49006
chr206193992861939987E068-37569
chr206194015061940348E068-37208
chr206194037461940428E068-37128
chr206194048461940534E068-37022
chr206194058161940671E068-36885
chr206198329661984177E0685740
chr206198423761984327E0686681
chr206198451061984601E0686954
chr206198463761984718E0687081
chr206200858362009798E06831027
chr206192796661928173E069-49383
chr206192821961928550E069-49006
chr206192915861929219E069-48337
chr206192925261929343E069-48213
chr206193976761939844E069-37712
chr206193992861939987E069-37569
chr206194015061940348E069-37208
chr206194037461940428E069-37128
chr206194048461940534E069-37022
chr206194058161940671E069-36885
chr206194068261941468E069-36088
chr206197686961977040E069-516
chr206197711161977181E069-375
chr206198329661984177E0695740
chr206198423761984327E0696681
chr206198451061984601E0696954
chr206198463761984718E0697081
chr206198971461989994E06912158
chr206199017161990211E06912615
chr206199030761990364E06912751
chr206199137761991546E06913821
chr206200181562001855E06924259
chr206200842062008460E06930864
chr206200986162009912E06932305
chr206201009162010268E06932535
chr206201033562010459E06932779
chr206201307262013585E06935516
chr206202528962026136E06947733
chr206202615862026423E06948602
chr206192796661928173E070-49383
chr206192821961928550E070-49006
chr206192877961929082E070-48474
chr206197632761976476E070-1080
chr206197652461976762E070-794
chr206197686961977040E070-516
chr206198309461983179E0705538
chr206198423761984327E0706681
chr206198451061984601E0706954
chr206198463761984718E0707081
chr206198971461989994E07012158
chr206200120162001489E07023645
chr206200181562001855E07024259
chr206200186262003060E07024306
chr206200986162009912E07032305
chr206201009162010268E07032535
chr206201033562010459E07032779
chr206201307262013585E07035516
chr206202493162025253E07047375
chr206202615862026423E07048602
chr206202667262026738E07049116
chr206192796661928173E071-49383
chr206192821961928550E071-49006
chr206194015061940348E071-37208
chr206194037461940428E071-37128
chr206194048461940534E071-37022
chr206194058161940671E071-36885
chr206194068261941468E071-36088
chr206194384161944051E071-33505
chr206194411461944308E071-33248
chr206194444761944864E071-32692
chr206198329661984177E0715740
chr206198423761984327E0716681
chr206198451061984601E0716954
chr206198463761984718E0717081
chr206198485561984906E0717299
chr206198503161985075E0717475
chr206200842062008460E07130864
chr206200858362009798E07131027
chr206200986162009912E07132305
chr206201009162010268E07132535
chr206201307262013585E07135516
chr206192796661928173E072-49383
chr206192821961928550E072-49006
chr206193976761939844E072-37712
chr206193992861939987E072-37569
chr206194015061940348E072-37208
chr206194037461940428E072-37128
chr206194048461940534E072-37022
chr206194058161940671E072-36885
chr206194068261941468E072-36088
chr206194344261943614E072-33942
chr206194384161944051E072-33505
chr206194411461944308E072-33248
chr206194444761944864E072-32692
chr206195216261952254E072-25302
chr206195227761952368E072-25188
chr206195257061953054E072-24502
chr206196778761967837E072-9719
chr206196784561967979E072-9577
chr206198309461983179E0725538
chr206198329661984177E0725740
chr206198423761984327E0726681
chr206198451061984601E0726954
chr206198463761984718E0727081
chr206198971461989994E07212158
chr206199017161990211E07212615
chr206200186262003060E07224306
chr206200858362009798E07231027
chr206200986162009912E07232305
chr206201009162010268E07232535
chr206201033562010459E07232779
chr206201307262013585E07235516
chr206202493162025253E07247375
chr206202528962026136E07247733
chr206192796661928173E073-49383
chr206192821961928550E073-49006
chr206194037461940428E073-37128
chr206194384161944051E073-33505
chr206194411461944308E073-33248
chr206194444761944864E073-32692
chr206197721161978004E0730
chr206197804761978087E073491
chr206197809861978251E073542
chr206197836961978409E073813
chr206197851161978581E073955
chr206198329661984177E0735740
chr206198423761984327E0736681
chr206198451061984601E0736954
chr206198463761984718E0737081
chr206198917761989713E07311621
chr206198971461989994E07312158
chr206199017161990211E07312615
chr206199030761990364E07312751
chr206199048561990630E07312929
chr206199072361990816E07313167
chr206199104261991248E07313486
chr206199842961998695E07320873
chr206200181562001855E07324259
chr206200186262003060E07324306
chr206200842062008460E07330864
chr206200986162009912E07332305
chr206201307262013585E07335516
chr206202493162025253E07347375
chr206202528962026136E07347733
chr206202615862026423E07348602
chr206192796661928173E074-49383
chr206192821961928550E074-49006
chr206197721161978004E0740
chr206197804761978087E074491
chr206197809861978251E074542
chr206197836961978409E074813
chr206198329661984177E0745740
chr206198423761984327E0746681
chr206198451061984601E0746954
chr206198463761984718E0747081
chr206200858362009798E07431027
chr206200986162009912E07432305
chr206201009162010268E07432535
chr206201033562010459E07432779
chr206192796661928173E081-49383
chr206192821961928550E081-49006
chr206194015061940348E081-37208
chr206194037461940428E081-37128
chr206194048461940534E081-37022
chr206194058161940671E081-36885
chr206194068261941468E081-36088
chr206194147761941527E081-36029
chr206194335961943431E081-34125
chr206194344261943614E081-33942
chr206194384161944051E081-33505
chr206194411461944308E081-33248
chr206194444761944864E081-32692
chr206194499061945040E081-32516
chr206194518461945376E081-32180
chr206194539561945435E081-32121
chr206194543861945498E081-32058
chr206194604561946089E081-31467
chr206194652861946652E081-30904
chr206194669361946737E081-30819
chr206194677461946878E081-30678
chr206194694961947029E081-30527
chr206194719961947329E081-30227
chr206194775461947804E081-29752
chr206194788361947949E081-29607
chr206195257061953054E081-24502
chr206195355361953628E081-23928
chr206195378861953838E081-23718
chr206195386261953973E081-23583
chr206195411961954183E081-23373
chr206195427561954349E081-23207
chr206195435061954532E081-23024
chr206195649661956546E081-21010
chr206196957661969656E081-7900
chr206197405561974126E081-3430
chr206197422861974640E081-2916
chr206197464661974813E081-2743
chr206197484161974995E081-2561
chr206197504961975222E081-2334
chr206197531461975430E081-2126
chr206197549861975651E081-1905
chr206197588661976227E081-1329
chr206197632761976476E081-1080
chr206197809861978251E081542
chr206197836961978409E081813
chr206197851161978581E081955
chr206197868661978843E0811130
chr206197897861979136E0811422
chr206198309461983179E0815538
chr206198329661984177E0815740
chr206198423761984327E0816681
chr206198451061984601E0816954
chr206198463761984718E0817081
chr206198485561984906E0817299
chr206198503161985075E0817475
chr206198912161989171E08111565
chr206198971461989994E08112158
chr206199017161990211E08112615
chr206199030761990364E08112751
chr206199048561990630E08112929
chr206199072361990816E08113167
chr206199104261991248E08113486
chr206199137761991546E08113821
chr206199536461995421E08117808
chr206199546561995680E08117909
chr206199710461997164E08119548
chr206199730861997368E08119752
chr206199767061998388E08120114
chr206199842961998695E08120873
chr206199890561999422E08121349
chr206200040462000468E08122848
chr206200056062000629E08123004
chr206200078862000902E08123232
chr206200120162001489E08123645
chr206200181562001855E08124259
chr206200186262003060E08124306
chr206200405562004095E08126499
chr206200423262004282E08126676
chr206200446762004558E08126911
chr206200471362005176E08127157
chr206200535762005429E08127801
chr206200544362005483E08127887
chr206200551862005568E08127962
chr206200558562005665E08128029
chr206200572462005774E08128168
chr206200581662006212E08128260
chr206200645562006505E08128899
chr206200750962007566E08129953
chr206200842062008460E08130864
chr206200858362009798E08131027
chr206200986162009912E08132305
chr206201009162010268E08132535
chr206201033562010459E08132779
chr206201048962010636E08132933
chr206201261862013030E08135062
chr206201307262013585E08135516
chr206201363062013690E08136074
chr206201369362013746E08136137
chr206201380162013876E08136245
chr206201389562013949E08136339
chr206201399362014135E08136437
chr206201473262015187E08137176
chr206201841962018706E08140863
chr206202414062024312E08146584
chr206202438962024468E08146833
chr206202450362024553E08146947
chr206202493162025253E08147375
chr206202528962026136E08147733
chr206202615862026423E08148602
chr206202667262026738E08149116
chr206202683662026905E08149280
chr206202700262027184E08149446
chr206202729462027473E08149738
chr206192821961928550E082-49006
chr206193992861939987E082-37569
chr206194411461944308E082-33248
chr206194444761944864E082-32692
chr206195378861953838E082-23718
chr206195386261953973E082-23583
chr206195411961954183E082-23373
chr206196478761964837E082-12719
chr206196495261965075E082-12481
chr206196527161965325E082-12231
chr206197405561974126E082-3430
chr206197464661974813E082-2743
chr206198309461983179E0825538
chr206198329661984177E0825740
chr206198423761984327E0826681
chr206198451061984601E0826954
chr206199048561990630E08212929
chr206199072361990816E08213167
chr206199104261991248E08213486
chr206199710461997164E08219548
chr206199730861997368E08219752
chr206199767061998388E08220114
chr206199842961998695E08220873
chr206199890561999422E08221349
chr206199942361999473E08221867
chr206200056062000629E08223004
chr206200078862000902E08223232
chr206200120162001489E08223645
chr206200181562001855E08224259
chr206200405562004095E08226499
chr206200423262004282E08226676
chr206200446762004558E08226911
chr206200471362005176E08227157
chr206200535762005429E08227801
chr206200544362005483E08227887
chr206200551862005568E08227962
chr206200558562005665E08228029
chr206200572462005774E08228168
chr206200581662006212E08228260
chr206200645562006505E08228899
chr206200750962007566E08229953
chr206200986162009912E08232305
chr206201009162010268E08232535
chr206201033562010459E08232779
chr206201048962010636E08232933
chr206201307262013585E08235516
chr206201363062013690E08236074
chr206201369362013746E08236137
chr206201380162013876E08236245
chr206201389562013949E08236339
chr206201473262015187E08237176
chr206202493162025253E08247375
chr206202667262026738E08249116
chr206202683662026905E08249280
chr206202700262027184E08249446
chr206202729462027473E08249738