rs1704904

Homo sapiens
C>T
CHST11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0071 (2142/29976,GnomAD)
T=0046 (1360/29118,TOPMED)
T=0141 (708/5008,1000G)
T=0046 (179/3854,ALSPAC)
T=0040 (149/3708,TWINSUK)
chr12:104548608 (GRCh38.p7) (12q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.104548608C>T
GRCh37.p13 chr 12NC_000012.11:g.104942386C>T
CHST11 RefSeqGeneNG_029810.1:g.96695C>T

Gene: CHST11, carbohydrate (chondroitin 4) sulfotransferase 11(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHST11 transcript variant 2NM_001173982.1:c.N/AIntron Variant
CHST11 transcript variant 1NM_018413.5:c.N/AIntron Variant
CHST11 transcript variant X1XM_017019369.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.986T=0.014
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.550T=0.450
1000GenomesEuropeSub1006C=0.943T=0.057
1000GenomesGlobalStudy-wide5008C=0.859T=0.141
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.954T=0.046
The Genome Aggregation DatabaseAfricanSub8720C=0.978T=0.022
The Genome Aggregation DatabaseAmericanSub836C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1614C=0.504T=0.496
The Genome Aggregation DatabaseEuropeSub18504C=0.945T=0.054
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.928T=0.071
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.953T=0.046
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.960T=0.040
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs17049040.000837nicotine smoking19268276

eQTL of rs1704904 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 rs1704904 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 )
chr12104904031104904421E067-37965
chr12104904473104904575E067-37811
chr12104912778104913952E067-28434
chr12104916823104917796E067-24590
chr12104917853104918187E067-24199
chr12104898893104899090E068-43296
chr12104899095104899180E068-43206
chr12104899183104899571E068-42815
chr12104899619104899681E068-42705
chr12104899729104899789E068-42597
chr12104903764104903832E068-38554
chr12104903920104904022E068-38364
chr12104904031104904421E068-37965
chr12104904473104904575E068-37811
chr12104905155104905307E068-37079
chr12104905315104905365E068-37021
chr12104908625104908694E068-33692
chr12104908768104908831E068-33555
chr12104908899104908949E068-33437
chr12104908954104909214E068-33172
chr12104909307104909387E068-32999
chr12104909467104909532E068-32854
chr12104909629104909764E068-32622
chr12104913979104914812E068-27574
chr12104914818104914991E068-27395
chr12104916823104917796E068-24590
chr12104917853104918187E068-24199
chr12104918484104918609E068-23777
chr12104934205104934285E068-8101
chr12104934420104934537E068-7849
chr12104934630104934716E068-7670
chr12104934726104935104E068-7282
chr12104935140104935216E068-7170
chr12104940285104941527E068-859
chr12104945055104945334E0682669
chr12104951156104951251E0688770
chr12104951397104951479E0689011
chr12104951572104951800E0689186
chr12104959456104959685E06817070
chr12104959760104959955E06817374
chr12104960092104960275E06817706
chr12104960365104960521E06817979
chr12104960529104960681E06818143
chr12104961212104961313E06818826
chr12104961341104961490E06818955
chr12104961678104961739E06819292
chr12104961868104962596E06819482
chr12104969539104969909E06827153
chr12104970068104970122E06827682
chr12104970258104970367E06827872
chr12104970645104971035E06828259
chr12104971080104971298E06828694
chr12104973631104973742E06831245
chr12104989666104991406E06847280
chr12104991574104991680E06849188
chr12104991753104992106E06849367
chr12104992161104992220E06849775
chr12104897091104897189E069-45197
chr12104913979104914812E069-27574
chr12104914818104914991E069-27395
chr12104915091104915151E069-27235
chr12104915236104915446E069-26940
chr12104915493104915769E069-26617
chr12104918484104918609E069-23777
chr12104949291104949408E0696905
chr12104949412104949677E0697026
chr12104949760104949828E0697374
chr12104961678104961739E06919292
chr12104898695104898892E070-43494
chr12104898893104899090E070-43296
chr12104899095104899180E070-43206
chr12104899183104899571E070-42815
chr12104900076104900161E070-42225
chr12104901346104901717E070-40669
chr12104903764104903832E070-38554
chr12104903920104904022E070-38364
chr12104904031104904421E070-37965
chr12104907394104907865E070-34521
chr12104907925104908091E070-34295
chr12104908148104908245E070-34141
chr12104911472104911646E070-30740
chr12104911662104911712E070-30674
chr12104911718104911774E070-30612
chr12104912099104912232E070-30154
chr12104912284104912381E070-30005
chr12104912441104912694E070-29692
chr12104912778104913952E070-28434
chr12104913979104914812E070-27574
chr12104914818104914991E070-27395
chr12104915091104915151E070-27235
chr12104915236104915446E070-26940
chr12104915493104915769E070-26617
chr12104927567104927651E070-14735
chr12104927809104927903E070-14483
chr12104927997104928560E070-13826
chr12104928665104928733E070-13653
chr12104928771104928877E070-13509
chr12104928950104929054E070-13332
chr12104929203104929432E070-12954
chr12104934630104934716E070-7670
chr12104934726104935104E070-7282
chr12104935140104935216E070-7170
chr12104938704104938868E070-3518
chr12104939002104939083E070-3303
chr12104944871104944921E0702485
chr12104944960104945000E0702574
chr12104945055104945334E0702669
chr12104945400104945590E0703014
chr12104945627104945726E0703241
chr12104949291104949408E0706905
chr12104949412104949677E0707026
chr12104949760104949828E0707374
chr12104961868104962596E07019482
chr12104978626104978808E07036240
chr12104978873104978936E07036487
chr12104978997104979092E07036611
chr12104979135104979248E07036749
chr12104980639104980741E07038253
chr12104899095104899180E071-43206
chr12104901192104901242E071-41144
chr12104903764104903832E071-38554
chr12104903920104904022E071-38364
chr12104904031104904421E071-37965
chr12104904473104904575E071-37811
chr12104912778104913952E071-28434
chr12104916823104917796E071-24590
chr12104918828104919091E071-23295
chr12104939798104939897E071-2489
chr12104940285104941527E071-859
chr12104961678104961739E07119292
chr12104961868104962596E07119482
chr12104903764104903832E072-38554
chr12104903920104904022E072-38364
chr12104904031104904421E072-37965
chr12104913979104914812E072-27574
chr12104959456104959685E07217070
chr12104959760104959955E07217374
chr12104989407104989462E07247021
chr12104900424104901172E073-41214
chr12104903920104904022E073-38364
chr12104904031104904421E073-37965
chr12104912778104913952E073-28434
chr12104913979104914812E073-27574
chr12104989407104989462E07347021
chr12104989666104991406E07347280
chr12104900424104901172E074-41214
chr12104903920104904022E074-38364
chr12104904031104904421E074-37965
chr12104904473104904575E074-37811
chr12104912778104913952E074-28434
chr12104915091104915151E074-27235
chr12104915236104915446E074-26940
chr12104915493104915769E074-26617
chr12104917853104918187E074-24199
chr12104918484104918609E074-23777
chr12104940285104941527E074-859
chr12104959456104959685E07417070
chr12104959760104959955E07417374
chr12104960092104960275E07417706
chr12104960365104960521E07417979
chr12104964737104964877E07422351
chr12104965117104965167E07422731
chr12104965212104965576E07422826
chr12104899095104899180E081-43206
chr12104900424104901172E081-41214
chr12104901192104901242E081-41144
chr12104901346104901717E081-40669
chr12104901724104901827E081-40559
chr12104901831104901888E081-40498
chr12104916823104917796E081-24590
chr12104917853104918187E081-24199
chr12104918484104918609E081-23777
chr12104927997104928560E081-13826
chr12104928665104928733E081-13653
chr12104928771104928877E081-13509
chr12104928950104929054E081-13332
chr12104929203104929432E081-12954
chr12104945400104945590E0813014
chr12104945627104945726E0813241
chr12104949291104949408E0816905
chr12104949412104949677E0817026
chr12104949760104949828E0817374
chr12104961678104961739E08119292
chr12104961868104962596E08119482
chr12104971080104971298E08128694
chr12104971313104971856E08128927
chr12104971872104972163E08129486
chr12104989666104991406E08147280
chr12104991574104991680E08149188
chr12104899619104899681E082-42705
chr12104899729104899789E082-42597
chr12104900076104900161E082-42225
chr12104900424104901172E082-41214
chr12104901192104901242E082-41144
chr12104901346104901717E082-40669
chr12104901724104901827E082-40559
chr12104903920104904022E082-38364
chr12104904031104904421E082-37965
chr12104904473104904575E082-37811
chr12104907394104907865E082-34521
chr12104907925104908091E082-34295
chr12104912778104913952E082-28434
chr12104915493104915769E082-26617
chr12104916071104916121E082-26265
chr12104916823104917796E082-24590
chr12104917853104918187E082-24199
chr12104940285104941527E082-859
chr12104961868104962596E08219482
chr12104978873104978936E08236487
chr12104980016104980523E08237630
chr12104980639104980741E08238253
chr12104989666104991406E08247280