rs8042108

Homo sapiens
C>T
ACAN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0180 (5397/29902,GnomAD)
T=0251 (7330/29118,TOPMED)
T=0238 (1192/5008,1000G)
T=0079 (306/3854,ALSPAC)
T=0081 (301/3708,TWINSUK)
chr15:88861649 (GRCh38.p7) (15q26.1)
ND
GWASdb2
1   publication(s)
See rs on genome
37 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.88861649C>T
GRCh37.p13 chr 15NC_000015.9:g.89404880C>T
ACAN RefSeqGeneNG_012794.1:g.63207C>T

Gene: ACAN, aggrecan(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ACAN transcript variant 1NM_001135.3:c.N/AIntron Variant
ACAN transcript variant 2NM_013227.3:c.N/AIntron Variant
ACAN transcript variant X1XM_006720419.1:c.N/AIntron Variant
ACAN transcript variant X2XM_011521313.1:c.N/AIntron Variant
ACAN transcript variant X3XM_011521314.1:c.N/AIntron Variant
ACAN transcript variant X2XM_017021985.1:c.N/AIntron Variant
ACAN transcript variant X3XM_017021986.1:c.N/AIntron Variant
ACAN transcript variant X5XM_017021987.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.473T=0.527
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.948T=0.052
1000GenomesEuropeSub1006C=0.914T=0.086
1000GenomesGlobalStudy-wide5008C=0.762T=0.238
1000GenomesSouth AsianSub978C=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.921T=0.079
The Genome Aggregation DatabaseAfricanSub8680C=0.563T=0.437
The Genome Aggregation DatabaseAmericanSub838C=0.930T=0.070
The Genome Aggregation DatabaseEast AsianSub1622C=0.933T=0.067
The Genome Aggregation DatabaseEuropeSub18460C=0.924T=0.075
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.819T=0.180
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.748T=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.919T=0.081
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs80421080.000214nicotine dependence17158188

eQTL of rs8042108 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 rs8042108 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 )
chr158943950189441464E06734621
chr158945326889453325E06748388
chr158945354489454115E06748664
chr158937671689376907E068-27973
chr158937697489378034E068-26846
chr158943950189441464E06834621
chr158937607089376338E069-28542
chr158937671689376907E069-27973
chr158937697489378034E069-26846
chr158943950189441464E06934621
chr158944765589448844E06942775
chr158943950189441464E07034621
chr158945174089451878E07046860
chr158945189989451983E07047019
chr158945199589452049E07047115
chr158945326889453325E07048388
chr158937607089376338E071-28542
chr158937671689376907E071-27973
chr158937697489378034E071-26846
chr158943950189441464E07134621
chr158944765589448844E07142775
chr158937671689376907E072-27973
chr158937697489378034E072-26846
chr158943950189441464E07234621
chr158944765589448844E07242775
chr158943950189441464E07334621
chr158945069589450979E07345815
chr158945101289451131E07346132
chr158945118489451305E07346304
chr158937607089376338E074-28542
chr158937671689376907E074-27973
chr158937697489378034E074-26846
chr158943950189441464E07434621
chr158944765589448844E07442775
chr158945418089454662E07449300
chr158943950189441464E08134621
chr158944765589448844E08242775










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr158943719389439222E06832313