rs11648852

Homo sapiens
T>C
ZCCHC14 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0142 (17315/121378,ExAC)
C=0134 (4044/29968,GnomAD)
C=0111 (3231/29118,TOPMED)
T==0116 (1516/12996,GO-ESP)
C=0127 (637/5008,1000G)
C=0128 (492/3854,ALSPAC)
C=0133 (493/3708,TWINSUK)
chr16:87460131 (GRCh38.p7) (16q24.2)
ND
GWASdb2
1   publication(s)
See rs on genome
357 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.87460131T>C
GRCh37.p13 chr 16NC_000016.9:g.87493737T>C

Gene: ZCCHC14, zinc finger CCHC-type containing 14(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZCCHC14 transcriptNM_015144.2:c.160A>GI [ATC]> V [GTC]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14NP_055959.1:p.Ile...NP_055959.1:p.Ile54ValI [Ile]> V [Val]Missense Variant
ZCCHC14 transcript variant X1XM_005255858.3:c....XM_005255858.3:c.160A>GI [ATC]> V [GTC]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14 isoform X1XP_005255915.2:p....XP_005255915.2:p.Ile54ValI [Ile]> V [Val]Missense Variant
ZCCHC14 transcript variant X3XM_017023082.1:c....XM_017023082.1:c.52A>GI [ATC]> V [GTC]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14 isoform X2XP_016878571.1:p....XP_016878571.1:p.Ile18ValI [Ile]> V [Val]Missense Variant
ZCCHC14 transcript variant X4XM_011522964.2:c....XM_011522964.2:c.571A>GI [ATC]> V [GTC]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14 isoform X3XP_011521266.1:p....XP_011521266.1:p.Ile191ValI [Ile]> V [Val]Missense Variant
ZCCHC14 transcript variant X2XR_243401.3:n.378A>GA>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.933C=0.067
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.773C=0.227
1000GenomesEuropeSub1006T=0.882C=0.118
1000GenomesGlobalStudy-wide5008T=0.873C=0.127
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.872C=0.128
The Exome Aggregation ConsortiumAmericanSub21984T=0.875C=0.124
The Exome Aggregation ConsortiumAsianSub25152T=0.838C=0.161
The Exome Aggregation ConsortiumEuropeSub73334T=0.858C=0.142
The Exome Aggregation ConsortiumGlobalStudy-wide121378T=0.857C=0.142
The Exome Aggregation ConsortiumOtherSub908T=0.880C=0.120
The Genome Aggregation DatabaseAfricanSub8722T=0.916C=0.084
The Genome Aggregation DatabaseAmericanSub834T=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1620T=0.739C=0.261
The Genome Aggregation DatabaseEuropeSub18490T=0.852C=0.147
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.865C=0.134
The Genome Aggregation DatabaseOtherSub302T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.889C=0.111
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.867C=0.133
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs116488521.06E-05nicotine dependence (smoking)22377092

eQTL of rs11648852 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 rs11648852 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 )
chr168746826687468306E067-25431
chr168746882787468877E067-24860
chr168746893387470319E067-23418
chr168747037587470601E067-23136
chr168749464787494702E067910
chr168749472887494891E067991
chr168749492787495666E0671190
chr168749670787496808E0672970
chr168749688587496935E0673148
chr168749701587497069E0673278
chr168749735787499382E0673620
chr168749950387499877E0675766
chr168749991387500113E0676176
chr168750022487500472E0676487
chr168750050487500620E0676767
chr168750340587503556E0679668
chr168750394087504017E06710203
chr168750402887504110E06710291
chr168750411487504232E06710377
chr168750429487504388E06710557
chr168750485587505216E06711118
chr168750523387505591E06711496
chr168750570187505786E06711964
chr168750596587506043E06712228
chr168750931287509634E06715575
chr168750964887509725E06715911
chr168750973587509872E06715998
chr168751092987511529E06717192
chr168751454687514606E06720809
chr168751464987514699E06720912
chr168751862987518708E06724892
chr168751932787519367E06725590
chr168751942487519590E06725687
chr168751964587519742E06725908
chr168751979087519831E06726053
chr168751995987520035E06726222
chr168752004787520148E06726310
chr168752033487520459E06726597
chr168752048987520775E06726752
chr168745770687457756E068-35981
chr168745800187458072E068-35665
chr168745807487458218E068-35519
chr168745822587458357E068-35380
chr168745838787458437E068-35300
chr168745846087458511E068-35226
chr168746882787468877E068-24860
chr168746893387470319E068-23418
chr168747037587470601E068-23136
chr168749492787495666E0681190
chr168749735787499382E0683620
chr168749950387499877E0685766
chr168749991387500113E0686176
chr168750228087502410E0688543
chr168750248187502597E0688744
chr168750285187502999E0689114
chr168750340587503556E0689668
chr168750485587505216E06811118
chr168750523387505591E06811496
chr168750570187505786E06811964
chr168750596587506043E06812228
chr168750623087506290E06812493
chr168750931287509634E06815575
chr168750964887509725E06815911
chr168750973587509872E06815998
chr168751039487510476E06816657
chr168751066987510752E06816932
chr168751084787510902E06817110
chr168751092987511529E06817192
chr168751180987511880E06818072
chr168751454687514606E06820809
chr168751464987514699E06820912
chr168751477887514822E06821041
chr168751795987518365E06824222
chr168751837087518589E06824633
chr168751862987518708E06824892
chr168751873087518848E06824993
chr168751932787519367E06825590
chr168751942487519590E06825687
chr168751964587519742E06825908
chr168751979087519831E06826053
chr168751995987520035E06826222
chr168752004787520148E06826310
chr168752033487520459E06826597
chr168752172687521803E06827989
chr168752193487521997E06828197
chr168752203787522097E06828300
chr168754097787541773E06847240
chr168745800187458072E069-35665
chr168745807487458218E069-35519
chr168745822587458357E069-35380
chr168745838787458437E069-35300
chr168746049587460644E069-33093
chr168746065687460759E069-32978
chr168746084987461000E069-32737
chr168746738087467445E069-26292
chr168746882787468877E069-24860
chr168746893387470319E069-23418
chr168747037587470601E069-23136
chr168749735787499382E0693620
chr168749950387499877E0695766
chr168749991387500113E0696176
chr168750022487500472E0696487
chr168750285187502999E0699114
chr168750340587503556E0699668
chr168750931287509634E06915575
chr168750964887509725E06915911
chr168750973587509872E06915998
chr168751092987511529E06917192
chr168751942487519590E06925687
chr168751964587519742E06925908
chr168751979087519831E06926053
chr168751995987520035E06926222
chr168752004787520148E06926310
chr168752033487520459E06926597
chr168752048987520775E06926752
chr168754038587540456E06946648
chr168754048287540596E06946745
chr168754073987540950E06947002
chr168754097787541773E06947240
chr168751084787510902E07017110
chr168751092987511529E07017192
chr168751995987520035E07026222
chr168752004787520148E07026310
chr168752033487520459E07026597
chr168752048987520775E07026752
chr168752193487521997E07028197
chr168752242687522486E07028689
chr168752261287522874E07028875
chr168752762187527759E07033884
chr168746826687468306E071-25431
chr168746882787468877E071-24860
chr168746893387470319E071-23418
chr168747037587470601E071-23136
chr168747104287471118E071-22619
chr168749472887494891E071991
chr168749492787495666E0711190
chr168749735787499382E0713620
chr168749950387499877E0715766
chr168749991387500113E0716176
chr168750022487500472E0716487
chr168750228087502410E0718543
chr168750248187502597E0718744
chr168750285187502999E0719114
chr168750340587503556E0719668
chr168750394087504017E07110203
chr168750402887504110E07110291
chr168750411487504232E07110377
chr168750429487504388E07110557
chr168750465787504701E07110920
chr168750485587505216E07111118
chr168750523387505591E07111496
chr168750570187505786E07111964
chr168750596587506043E07112228
chr168750842587508831E07114688
chr168750931287509634E07115575
chr168750964887509725E07115911
chr168750973587509872E07115998
chr168751039487510476E07116657
chr168751066987510752E07116932
chr168751084787510902E07117110
chr168751454687514606E07120809
chr168751464987514699E07120912
chr168751477887514822E07121041
chr168751490987514982E07121172
chr168751795987518365E07124222
chr168751837087518589E07124633
chr168751942487519590E07125687
chr168751964587519742E07125908
chr168751979087519831E07126053
chr168751995987520035E07126222
chr168752004787520148E07126310
chr168752033487520459E07126597
chr168752048987520775E07126752
chr168752172687521803E07127989
chr168752193487521997E07128197
chr168752203787522097E07128300
chr168752226987522309E07128532
chr168752242687522486E07128689
chr168752261287522874E07128875
chr168754097787541773E07147240
chr168754204787542101E07148310
chr168744600087446054E072-47683
chr168744610687446165E072-47572
chr168744637187446443E072-47294
chr168746826687468306E072-25431
chr168746882787468877E072-24860
chr168746893387470319E072-23418
chr168749464787494702E072910
chr168749472887494891E072991
chr168749492787495666E0721190
chr168749735787499382E0723620
chr168749950387499877E0725766
chr168749991387500113E0726176
chr168750022487500472E0726487
chr168750050487500620E0726767
chr168750083287501102E0727095
chr168750112587501169E0727388
chr168750285187502999E0729114
chr168750340587503556E0729668
chr168750394087504017E07210203
chr168750402887504110E07210291
chr168750931287509634E07215575
chr168750964887509725E07215911
chr168750973587509872E07215998
chr168751039487510476E07216657
chr168751066987510752E07216932
chr168751084787510902E07217110
chr168751092987511529E07217192
chr168751454687514606E07220809
chr168751464987514699E07220912
chr168751477887514822E07221041
chr168751964587519742E07225908
chr168751979087519831E07226053
chr168751995987520035E07226222
chr168752004787520148E07226310
chr168752033487520459E07226597
chr168752048987520775E07226752
chr168754097787541773E07247240
chr168744506487445204E073-48533
chr168744531687445366E073-48371
chr168744569987445755E073-47982
chr168744579787445855E073-47882
chr168744600087446054E073-47683
chr168744610687446165E073-47572
chr168745800187458072E073-35665
chr168745807487458218E073-35519
chr168745822587458357E073-35380
chr168745838787458437E073-35300
chr168745846087458511E073-35226
chr168745877687458826E073-34911
chr168746019487460331E073-33406
chr168746515487466019E073-27718
chr168746612287466210E073-27527
chr168746826687468306E073-25431
chr168746882787468877E073-24860
chr168746893387470319E073-23418
chr168747037587470601E073-23136
chr168749464787494702E073910
chr168749472887494891E073991
chr168749492787495666E0731190
chr168749670787496808E0732970
chr168749688587496935E0733148
chr168749701587497069E0733278
chr168749735787499382E0733620
chr168749950387499877E0735766
chr168749991387500113E0736176
chr168750022487500472E0736487
chr168750050487500620E0736767
chr168750228087502410E0738543
chr168750248187502597E0738744
chr168750285187502999E0739114
chr168750340587503556E0739668
chr168750394087504017E07310203
chr168750402887504110E07310291
chr168750411487504232E07310377
chr168750523387505591E07311496
chr168750931287509634E07315575
chr168750964887509725E07315911
chr168750973587509872E07315998
chr168751039487510476E07316657
chr168751066987510752E07316932
chr168751084787510902E07317110
chr168751092987511529E07317192
chr168751784487517898E07324107
chr168751795987518365E07324222
chr168751837087518589E07324633
chr168751862987518708E07324892
chr168751873087518848E07324993
chr168751932787519367E07325590
chr168751942487519590E07325687
chr168751964587519742E07325908
chr168751979087519831E07326053
chr168751995987520035E07326222
chr168752172687521803E07327989
chr168752193487521997E07328197
chr168752203787522097E07328300
chr168752226987522309E07328532
chr168752242687522486E07328689
chr168752261287522874E07328875
chr168754038587540456E07346648
chr168754048287540596E07346745
chr168754073987540950E07347002
chr168754097787541773E07347240
chr168746882787468877E074-24860
chr168746893387470319E074-23418
chr168747037587470601E074-23136
chr168749735787499382E0743620
chr168749950387499877E0745766
chr168749991387500113E0746176
chr168750022487500472E0746487
chr168750050487500620E0746767
chr168750931287509634E07415575
chr168750964887509725E07415911
chr168750973587509872E07415998
chr168751039487510476E07416657
chr168751066987510752E07416932
chr168751084787510902E07417110
chr168751092987511529E07417192
chr168751795987518365E07424222
chr168751837087518589E07424633
chr168751942487519590E07425687
chr168751964587519742E07425908
chr168751979087519831E07426053
chr168751995987520035E07426222
chr168752004787520148E07426310
chr168752033487520459E07426597
chr168752048987520775E07426752
chr168752172687521803E07427989
chr168752193487521997E07428197
chr168752203787522097E07428300
chr168752226987522309E07428532
chr168752242687522486E07428689
chr168752261287522874E07428875
chr168754000587540316E07446268
chr168754038587540456E07446648
chr168754048287540596E07446745
chr168754073987540950E07447002
chr168754097787541773E07447240
chr168748836587488415E081-5322
chr168748846787488511E081-5226
chr168748899087489040E081-4697
chr168750931287509634E08115575
chr168750964887509725E08115911
chr168750973587509872E08115998
chr168751039487510476E08116657
chr168751066987510752E08116932
chr168751084787510902E08117110
chr168751092987511529E08117192
chr168751581887516128E08122081
chr168751674487516784E08123007
chr168751719787517475E08123460
chr168751767387517723E08123936
chr168751784487517898E08124107
chr168751795987518365E08124222
chr168751837087518589E08124633
chr168751862987518708E08124892
chr168751873087518848E08124993
chr168751932787519367E08125590
chr168751942487519590E08125687
chr168751964587519742E08125908
chr168751979087519831E08126053
chr168751995987520035E08126222
chr168752004787520148E08126310
chr168752033487520459E08126597
chr168752048987520775E08126752
chr168752172687521803E08127989
chr168752193487521997E08128197
chr168752203787522097E08128300
chr168752226987522309E08128532
chr168752242687522486E08128689
chr168752261287522874E08128875
chr168752762187527759E08133884
chr168748937387489868E082-3869
chr168751964587519742E08225908
chr168751979087519831E08226053
chr168751995987520035E08226222
chr168752004787520148E08226310










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168752394587524785E06730208
chr168752531987525586E06731582
chr168752567687525886E06731939
chr168752629787527176E06732560
chr168752394587524785E06830208
chr168752531987525586E06831582
chr168752567687525886E06831939
chr168752394587524785E06930208
chr168752531987525586E06931582
chr168752567687525886E06931939
chr168752597287526113E06932235
chr168752611587526170E06932378
chr168752617187526248E06932434
chr168752629787527176E06932560
chr168752394587524785E07030208
chr168752531987525586E07031582
chr168752567687525886E07031939
chr168752597287526113E07032235
chr168752611587526170E07032378
chr168752617187526248E07032434
chr168752629787527176E07032560
chr168752394587524785E07130208
chr168752531987525586E07131582
chr168752567687525886E07131939
chr168752394587524785E07230208
chr168752531987525586E07231582
chr168752567687525886E07231939
chr168752597287526113E07232235
chr168752611587526170E07232378
chr168752617187526248E07232434
chr168752629787527176E07232560
chr168752394587524785E07330208
chr168752531987525586E07331582
chr168752567687525886E07331939
chr168752394587524785E07430208
chr168752531987525586E07431582
chr168752567687525886E07431939
chr168753600887536048E08142271
chr168752394587524785E08230208
chr168752531987525586E08231582
chr168752567687525886E08231939
chr168752597287526113E08232235
chr168752611587526170E08232378
chr168752617187526248E08232434
chr168752629787527176E08232560