rs2241617

Homo sapiens
T>C
ZCCHC14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0121 (3627/29972,GnomAD)
C=0097 (2823/29118,TOPMED)
C=0189 (946/5008,1000G)
C=0118 (454/3854,ALSPAC)
C=0117 (434/3708,TWINSUK)
chr16:87407442 (GRCh38.p7) (16q24.2)
ND
GWASdb2
2   publication(s)
See rs on genome
257 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.87407442T>C
GRCh37.p13 chr 16NC_000016.9:g.87441048T>C

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

Molecule type Change Amino acid[Codon] SO Term
ZCCHC14 transcriptNM_015144.2:c.N/A3 Prime UTR Variant
ZCCHC14 transcript variant X1XM_005255858.3:c.N/AGenic Downstream Transcript Variant
ZCCHC14 transcript variant X4XM_011522964.2:c.N/AGenic Downstream Transcript Variant
ZCCHC14 transcript variant X3XM_017023082.1:c.N/AGenic Downstream Transcript Variant
ZCCHC14 transcript variant X2XR_243401.3:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.968C=0.032
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.512C=0.488
1000GenomesEuropeSub1006T=0.879C=0.121
1000GenomesGlobalStudy-wide5008T=0.811C=0.189
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.882C=0.118
The Genome Aggregation DatabaseAfricanSub8728T=0.957C=0.043
The Genome Aggregation DatabaseAmericanSub838T=0.720C=0.280
The Genome Aggregation DatabaseEast AsianSub1612T=0.517C=0.483
The Genome Aggregation DatabaseEuropeSub18492T=0.881C=0.118
The Genome Aggregation DatabaseGlobalStudy-wide29972T=0.879C=0.121
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.903C=0.097
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.883C=0.117
PMID Title Author Journal
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
rs22416171.06E-07nicotine dependence (smoking)22377092

eQTL of rs2241617 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 rs2241617 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 )
chr168739727787397389E067-43659
chr168739744087398355E067-42693
chr168740354187403672E067-37376
chr168740376187403811E067-37237
chr168740386887404238E067-36810
chr168740424987404462E067-36586
chr168740480687404958E067-36090
chr168740499887405048E067-36000
chr168740509287405500E067-35548
chr168740608887406151E067-34897
chr168740910087409725E067-31323
chr168741392987414168E067-26880
chr168741425987414408E067-26640
chr168741444987414499E067-26549
chr168741455987414843E067-26205
chr168742134287423275E067-17773
chr168742788587428391E067-12657
chr168742842187428552E067-12496
chr168742855887428638E067-12410
chr168742874487428802E067-12246
chr168742885087429300E067-11748
chr168746826687468306E06727218
chr168746882787468877E06727779
chr168746893387470319E06727885
chr168747037587470601E06729327
chr168739506187395152E068-45896
chr168739539187395469E068-45579
chr168739553887395588E068-45460
chr168740159187401647E068-39401
chr168740285887403256E068-37792
chr168740354187403672E068-37376
chr168740376187403811E068-37237
chr168740386887404238E068-36810
chr168740424987404462E068-36586
chr168740480687404958E068-36090
chr168740499887405048E068-36000
chr168740910087409725E068-31323
chr168740975887409857E068-31191
chr168741425987414408E068-26640
chr168741444987414499E068-26549
chr168742053387420651E068-20397
chr168742078387421165E068-19883
chr168742788587428391E068-12657
chr168742842187428552E068-12496
chr168742855887428638E068-12410
chr168742874487428802E068-12246
chr168742885087429300E068-11748
chr168745770687457756E06816658
chr168745800187458072E06816953
chr168745807487458218E06817026
chr168745822587458357E06817177
chr168745838787458437E06817339
chr168745846087458511E06817412
chr168746882787468877E06827779
chr168746893387470319E06827885
chr168747037587470601E06829327
chr168739727787397389E069-43659
chr168739744087398355E069-42693
chr168740354187403672E069-37376
chr168740376187403811E069-37237
chr168740386887404238E069-36810
chr168740424987404462E069-36586
chr168740480687404958E069-36090
chr168740499887405048E069-36000
chr168740509287405500E069-35548
chr168740571487405764E069-35284
chr168740598087406020E069-35028
chr168741285787413264E069-27784
chr168741382187413865E069-27183
chr168741392987414168E069-26880
chr168741425987414408E069-26640
chr168741444987414499E069-26549
chr168741455987414843E069-26205
chr168742078387421165E069-19883
chr168742788587428391E069-12657
chr168742842187428552E069-12496
chr168742855887428638E069-12410
chr168742874487428802E069-12246
chr168742885087429300E069-11748
chr168745800187458072E06916953
chr168745807487458218E06917026
chr168745822587458357E06917177
chr168745838787458437E06917339
chr168746049587460644E06919447
chr168746065687460759E06919608
chr168746084987461000E06919801
chr168746738087467445E06926332
chr168746882787468877E06927779
chr168746893387470319E06927885
chr168747037587470601E06929327
chr168740354187403672E070-37376
chr168740376187403811E070-37237
chr168740386887404238E070-36810
chr168740424987404462E070-36586
chr168740480687404958E070-36090
chr168741425987414408E070-26640
chr168741444987414499E070-26549
chr168741455987414843E070-26205
chr168742788587428391E070-12657
chr168739727787397389E071-43659
chr168739744087398355E071-42693
chr168740285887403256E071-37792
chr168740354187403672E071-37376
chr168740376187403811E071-37237
chr168740386887404238E071-36810
chr168740424987404462E071-36586
chr168740480687404958E071-36090
chr168740499887405048E071-36000
chr168740910087409725E071-31323
chr168741285787413264E071-27784
chr168741382187413865E071-27183
chr168741392987414168E071-26880
chr168741425987414408E071-26640
chr168741444987414499E071-26549
chr168741455987414843E071-26205
chr168742053387420651E071-20397
chr168742078387421165E071-19883
chr168742788587428391E071-12657
chr168742842187428552E071-12496
chr168742855887428638E071-12410
chr168742874487428802E071-12246
chr168746826687468306E07127218
chr168746882787468877E07127779
chr168746893387470319E07127885
chr168747037587470601E07129327
chr168747104287471118E07129994
chr168739727787397389E072-43659
chr168739744087398355E072-42693
chr168740159187401647E072-39401
chr168740199787402385E072-38663
chr168740285887403256E072-37792
chr168740354187403672E072-37376
chr168740376187403811E072-37237
chr168740386887404238E072-36810
chr168740424987404462E072-36586
chr168740480687404958E072-36090
chr168740499887405048E072-36000
chr168740509287405500E072-35548
chr168740598087406020E072-35028
chr168740608887406151E072-34897
chr168740624087406292E072-34756
chr168740727387407313E072-33735
chr168740910087409725E072-31323
chr168740975887409857E072-31191
chr168741392987414168E072-26880
chr168741425987414408E072-26640
chr168741444987414499E072-26549
chr168741455987414843E072-26205
chr168742788587428391E072-12657
chr168742842187428552E072-12496
chr168742855887428638E072-12410
chr168742874487428802E072-12246
chr168742885087429300E072-11748
chr168744600087446054E0724952
chr168744610687446165E0725058
chr168744637187446443E0725323
chr168746826687468306E07227218
chr168746882787468877E07227779
chr168746893387470319E07227885
chr168739744087398355E073-42693
chr168740285887403256E073-37792
chr168740354187403672E073-37376
chr168740376187403811E073-37237
chr168740386887404238E073-36810
chr168740424987404462E073-36586
chr168740480687404958E073-36090
chr168740499887405048E073-36000
chr168741392987414168E073-26880
chr168741425987414408E073-26640
chr168741444987414499E073-26549
chr168742078387421165E073-19883
chr168742788587428391E073-12657
chr168742842187428552E073-12496
chr168742855887428638E073-12410
chr168742874487428802E073-12246
chr168742885087429300E073-11748
chr168744506487445204E0734016
chr168744531687445366E0734268
chr168744569987445755E0734651
chr168744579787445855E0734749
chr168744600087446054E0734952
chr168744610687446165E0735058
chr168745800187458072E07316953
chr168745807487458218E07317026
chr168745822587458357E07317177
chr168745838787458437E07317339
chr168745846087458511E07317412
chr168745877687458826E07317728
chr168746019487460331E07319146
chr168746515487466019E07324106
chr168746612287466210E07325074
chr168746826687468306E07327218
chr168746882787468877E07327779
chr168746893387470319E07327885
chr168747037587470601E07329327
chr168739727787397389E074-43659
chr168739744087398355E074-42693
chr168740354187403672E074-37376
chr168740376187403811E074-37237
chr168740386887404238E074-36810
chr168740424987404462E074-36586
chr168740480687404958E074-36090
chr168740499887405048E074-36000
chr168740509287405500E074-35548
chr168740910087409725E074-31323
chr168740975887409857E074-31191
chr168741392987414168E074-26880
chr168741425987414408E074-26640
chr168741444987414499E074-26549
chr168741455987414843E074-26205
chr168742078387421165E074-19883
chr168742788587428391E074-12657
chr168742842187428552E074-12496
chr168742855887428638E074-12410
chr168742874487428802E074-12246
chr168742885087429300E074-11748
chr168746882787468877E07427779
chr168746893387470319E07427885
chr168747037587470601E07429327
chr168739744087398355E081-42693
chr168740115787401484E081-39564
chr168740159187401647E081-39401
chr168740199787402385E081-38663
chr168740240987402460E081-38588
chr168740285887403256E081-37792
chr168740354187403672E081-37376
chr168740376187403811E081-37237
chr168740386887404238E081-36810
chr168740424987404462E081-36586
chr168740480687404958E081-36090
chr168740499887405048E081-36000
chr168740509287405500E081-35548
chr168741392987414168E081-26880
chr168741425987414408E081-26640
chr168741444987414499E081-26549
chr168741455987414843E081-26205
chr168742788587428391E081-12657
chr168742842187428552E081-12496
chr168742855887428638E081-12410
chr168742874487428802E081-12246
chr168748836587488415E08147317
chr168748846787488511E08147419
chr168748899087489040E08147942
chr168739744087398355E082-42693
chr168740101587401096E082-39952
chr168740115787401484E082-39564
chr168740285887403256E082-37792
chr168740354187403672E082-37376
chr168740376187403811E082-37237
chr168740386887404238E082-36810
chr168740424987404462E082-36586
chr168740480687404958E082-36090
chr168740499887405048E082-36000
chr168741444987414499E082-26549
chr168741455987414843E082-26205
chr168742788587428391E082-12657
chr168748937387489868E08248325










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168741638387418795E067-22253
chr168742461187427360E067-13688
chr168741638387418795E068-22253
chr168742461187427360E068-13688
chr168741638387418795E069-22253
chr168742461187427360E069-13688
chr168741638387418795E070-22253
chr168742461187427360E070-13688
chr168741638387418795E071-22253
chr168742461187427360E071-13688
chr168741638387418795E072-22253
chr168742461187427360E072-13688
chr168741638387418795E073-22253
chr168742461187427360E073-13688
chr168741638387418795E074-22253
chr168742461187427360E074-13688
chr168741638387418795E081-22253
chr168742461187427360E081-13688
chr168741638387418795E082-22253
chr168742461187427360E082-13688