rs3748400

Homo sapiens
C>T
ZCCHC14 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0353 (42424/119958,ExAC)
C==0433 (12954/29890,GnomAD)
T=0484 (14104/29118,TOPMED)
T=0415 (5392/12990,GO-ESP)
T=0461 (2311/5008,1000G)
C==0227 (876/3854,ALSPAC)
C==0222 (822/3708,TWINSUK)
chr16:87412233 (GRCh38.p7) (16q24.2)
ND
GWASdb2
3   publication(s)
See rs on genome
266 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.87412233C>T
GRCh37.p13 chr 16NC_000016.9:g.87445839C>T

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

Molecule type Change Amino acid[Codon] SO Term
ZCCHC14 transcriptNM_015144.2:c.207...NM_015144.2:c.2077G>AV [GTG]> M [ATG]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14NP_055959.1:p.Val...NP_055959.1:p.Val693MetV [Val]> M [Met]Missense Variant
ZCCHC14 transcript variant X4XM_011522964.2:c.N/AGenic Downstream Transcript Variant
ZCCHC14 transcript variant X1XM_005255858.3:c....XM_005255858.3:c.2077G>AV [GTG]> M [ATG]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14 isoform X1XP_005255915.2:p....XP_005255915.2:p.Val693MetV [Val]> M [Met]Missense Variant
ZCCHC14 transcript variant X3XM_017023082.1:c....XM_017023082.1:c.1969G>AV [GTG]> M [ATG]Coding Sequence Variant
zinc finger CCHC domain-containing protein 14 isoform X2XP_016878571.1:p....XP_016878571.1:p.Val657MetV [Val]> M [Met]Missense Variant
ZCCHC14 transcript variant X2XR_243401.3:n.229...XR_243401.3:n.2295G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.887T=0.113
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.688T=0.312
1000GenomesEuropeSub1006C=0.241T=0.759
1000GenomesGlobalStudy-wide5008C=0.539T=0.461
1000GenomesSouth AsianSub978C=0.270T=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.227T=0.773
The Exome Aggregation ConsortiumAmericanSub21372C=0.650T=0.349
The Exome Aggregation ConsortiumAsianSub25128C=0.418T=0.581
The Exome Aggregation ConsortiumEuropeSub72556C=0.244T=0.755
The Exome Aggregation ConsortiumGlobalStudy-wide119958C=0.353T=0.646
The Exome Aggregation ConsortiumOtherSub902C=0.320T=0.680
The Genome Aggregation DatabaseAfricanSub8700C=0.781T=0.219
The Genome Aggregation DatabaseAmericanSub838C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1612C=0.703T=0.297
The Genome Aggregation DatabaseEuropeSub18438C=0.245T=0.754
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.433T=0.566
The Genome Aggregation DatabaseOtherSub302C=0.330T=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.515T=0.484
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.222T=0.778
PMID Title Author Journal
19430760A genome-wide association scan for acute insulin response to glucose in Hispanic-Americans: the Insulin Resistance Atherosclerosis Family Study (IRAS FS).Rich SSDiabetologia
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend
22040902Genetic and histologic evidence for autophagy in asthma pathogenesis.Poon AHJ Allergy Clin Immunol

P-Value

SNP ID p-value Traits Study
rs37484001.04E-05nicotine dependence (smoking)22377092

eQTL of rs3748400 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 rs3748400 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 )
chr168739727787397389E067-48450
chr168739744087398355E067-47484
chr168740354187403672E067-42167
chr168740376187403811E067-42028
chr168740386887404238E067-41601
chr168740424987404462E067-41377
chr168740480687404958E067-40881
chr168740499887405048E067-40791
chr168740509287405500E067-40339
chr168740608887406151E067-39688
chr168740910087409725E067-36114
chr168741392987414168E067-31671
chr168741425987414408E067-31431
chr168741444987414499E067-31340
chr168741455987414843E067-30996
chr168742134287423275E067-22564
chr168742788587428391E067-17448
chr168742842187428552E067-17287
chr168742855887428638E067-17201
chr168742874487428802E067-17037
chr168742885087429300E067-16539
chr168746826687468306E06722427
chr168746882787468877E06722988
chr168746893387470319E06723094
chr168747037587470601E06724536
chr168749464787494702E06748808
chr168749472887494891E06748889
chr168749492787495666E06749088
chr168740159187401647E068-44192
chr168740285887403256E068-42583
chr168740354187403672E068-42167
chr168740376187403811E068-42028
chr168740386887404238E068-41601
chr168740424987404462E068-41377
chr168740480687404958E068-40881
chr168740499887405048E068-40791
chr168740910087409725E068-36114
chr168740975887409857E068-35982
chr168741425987414408E068-31431
chr168741444987414499E068-31340
chr168742053387420651E068-25188
chr168742078387421165E068-24674
chr168742788587428391E068-17448
chr168742842187428552E068-17287
chr168742855887428638E068-17201
chr168742874487428802E068-17037
chr168742885087429300E068-16539
chr168745770687457756E06811867
chr168745800187458072E06812162
chr168745807487458218E06812235
chr168745822587458357E06812386
chr168745838787458437E06812548
chr168745846087458511E06812621
chr168746882787468877E06822988
chr168746893387470319E06823094
chr168747037587470601E06824536
chr168749492787495666E06849088
chr168739727787397389E069-48450
chr168739744087398355E069-47484
chr168740354187403672E069-42167
chr168740376187403811E069-42028
chr168740386887404238E069-41601
chr168740424987404462E069-41377
chr168740480687404958E069-40881
chr168740499887405048E069-40791
chr168740509287405500E069-40339
chr168740571487405764E069-40075
chr168740598087406020E069-39819
chr168741285787413264E069-32575
chr168741382187413865E069-31974
chr168741392987414168E069-31671
chr168741425987414408E069-31431
chr168741444987414499E069-31340
chr168741455987414843E069-30996
chr168742078387421165E069-24674
chr168742788587428391E069-17448
chr168742842187428552E069-17287
chr168742855887428638E069-17201
chr168742874487428802E069-17037
chr168742885087429300E069-16539
chr168745800187458072E06912162
chr168745807487458218E06912235
chr168745822587458357E06912386
chr168745838787458437E06912548
chr168746049587460644E06914656
chr168746065687460759E06914817
chr168746084987461000E06915010
chr168746738087467445E06921541
chr168746882787468877E06922988
chr168746893387470319E06923094
chr168747037587470601E06924536
chr168740354187403672E070-42167
chr168740376187403811E070-42028
chr168740386887404238E070-41601
chr168740424987404462E070-41377
chr168740480687404958E070-40881
chr168741425987414408E070-31431
chr168741444987414499E070-31340
chr168741455987414843E070-30996
chr168742788587428391E070-17448
chr168739727787397389E071-48450
chr168739744087398355E071-47484
chr168740285887403256E071-42583
chr168740354187403672E071-42167
chr168740376187403811E071-42028
chr168740386887404238E071-41601
chr168740424987404462E071-41377
chr168740480687404958E071-40881
chr168740499887405048E071-40791
chr168740910087409725E071-36114
chr168741285787413264E071-32575
chr168741382187413865E071-31974
chr168741392987414168E071-31671
chr168741425987414408E071-31431
chr168741444987414499E071-31340
chr168741455987414843E071-30996
chr168742053387420651E071-25188
chr168742078387421165E071-24674
chr168742788587428391E071-17448
chr168742842187428552E071-17287
chr168742855887428638E071-17201
chr168742874487428802E071-17037
chr168746826687468306E07122427
chr168746882787468877E07122988
chr168746893387470319E07123094
chr168747037587470601E07124536
chr168747104287471118E07125203
chr168749472887494891E07148889
chr168749492787495666E07149088
chr168739727787397389E072-48450
chr168739744087398355E072-47484
chr168740159187401647E072-44192
chr168740199787402385E072-43454
chr168740285887403256E072-42583
chr168740354187403672E072-42167
chr168740376187403811E072-42028
chr168740386887404238E072-41601
chr168740424987404462E072-41377
chr168740480687404958E072-40881
chr168740499887405048E072-40791
chr168740509287405500E072-40339
chr168740598087406020E072-39819
chr168740608887406151E072-39688
chr168740624087406292E072-39547
chr168740727387407313E072-38526
chr168740910087409725E072-36114
chr168740975887409857E072-35982
chr168741392987414168E072-31671
chr168741425987414408E072-31431
chr168741444987414499E072-31340
chr168741455987414843E072-30996
chr168742788587428391E072-17448
chr168742842187428552E072-17287
chr168742855887428638E072-17201
chr168742874487428802E072-17037
chr168742885087429300E072-16539
chr168744600087446054E072161
chr168744610687446165E072267
chr168744637187446443E072532
chr168746826687468306E07222427
chr168746882787468877E07222988
chr168746893387470319E07223094
chr168749464787494702E07248808
chr168749472887494891E07248889
chr168749492787495666E07249088
chr168739744087398355E073-47484
chr168740285887403256E073-42583
chr168740354187403672E073-42167
chr168740376187403811E073-42028
chr168740386887404238E073-41601
chr168740424987404462E073-41377
chr168740480687404958E073-40881
chr168740499887405048E073-40791
chr168741392987414168E073-31671
chr168741425987414408E073-31431
chr168741444987414499E073-31340
chr168742078387421165E073-24674
chr168742788587428391E073-17448
chr168742842187428552E073-17287
chr168742855887428638E073-17201
chr168742874487428802E073-17037
chr168742885087429300E073-16539
chr168744506487445204E073-635
chr168744531687445366E073-473
chr168744569987445755E073-84
chr168744579787445855E0730
chr168744600087446054E073161
chr168744610687446165E073267
chr168745800187458072E07312162
chr168745807487458218E07312235
chr168745822587458357E07312386
chr168745838787458437E07312548
chr168745846087458511E07312621
chr168745877687458826E07312937
chr168746019487460331E07314355
chr168746515487466019E07319315
chr168746612287466210E07320283
chr168746826687468306E07322427
chr168746882787468877E07322988
chr168746893387470319E07323094
chr168747037587470601E07324536
chr168749464787494702E07348808
chr168749472887494891E07348889
chr168749492787495666E07349088
chr168739727787397389E074-48450
chr168739744087398355E074-47484
chr168740354187403672E074-42167
chr168740376187403811E074-42028
chr168740386887404238E074-41601
chr168740424987404462E074-41377
chr168740480687404958E074-40881
chr168740499887405048E074-40791
chr168740509287405500E074-40339
chr168740910087409725E074-36114
chr168740975887409857E074-35982
chr168741392987414168E074-31671
chr168741425987414408E074-31431
chr168741444987414499E074-31340
chr168741455987414843E074-30996
chr168742078387421165E074-24674
chr168742788587428391E074-17448
chr168742842187428552E074-17287
chr168742855887428638E074-17201
chr168742874487428802E074-17037
chr168742885087429300E074-16539
chr168746882787468877E07422988
chr168746893387470319E07423094
chr168747037587470601E07424536
chr168739744087398355E081-47484
chr168740115787401484E081-44355
chr168740159187401647E081-44192
chr168740199787402385E081-43454
chr168740240987402460E081-43379
chr168740285887403256E081-42583
chr168740354187403672E081-42167
chr168740376187403811E081-42028
chr168740386887404238E081-41601
chr168740424987404462E081-41377
chr168740480687404958E081-40881
chr168740499887405048E081-40791
chr168740509287405500E081-40339
chr168741392987414168E081-31671
chr168741425987414408E081-31431
chr168741444987414499E081-31340
chr168741455987414843E081-30996
chr168742788587428391E081-17448
chr168742842187428552E081-17287
chr168742855887428638E081-17201
chr168742874487428802E081-17037
chr168748836587488415E08142526
chr168748846787488511E08142628
chr168748899087489040E08143151
chr168739744087398355E082-47484
chr168740101587401096E082-44743
chr168740115787401484E082-44355
chr168740285887403256E082-42583
chr168740354187403672E082-42167
chr168740376187403811E082-42028
chr168740386887404238E082-41601
chr168740424987404462E082-41377
chr168740480687404958E082-40881
chr168740499887405048E082-40791
chr168741444987414499E082-31340
chr168741455987414843E082-30996
chr168742788587428391E082-17448
chr168748937387489868E08243534










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168741638387418795E067-27044
chr168742461187427360E067-18479
chr168741638387418795E068-27044
chr168742461187427360E068-18479
chr168741638387418795E069-27044
chr168742461187427360E069-18479
chr168741638387418795E070-27044
chr168742461187427360E070-18479
chr168741638387418795E071-27044
chr168742461187427360E071-18479
chr168741638387418795E072-27044
chr168742461187427360E072-18479
chr168741638387418795E073-27044
chr168742461187427360E073-18479
chr168741638387418795E074-27044
chr168742461187427360E074-18479
chr168741638387418795E081-27044
chr168742461187427360E081-18479
chr168741638387418795E082-27044
chr168742461187427360E082-18479