rs3094086

Homo sapiens
G>A
DPCR1 : Synonymous Variant
HCG21 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0096 (2805/29118,TOPMED)
A=0106 (3036/28586,GnomAD)
A=0068 (1653/24320,ExAC)
A=0039 (193/5008,1000G)
G==0116 (529/4566,GO-ESP)
A=0162 (623/3854,ALSPAC)
A=0169 (625/3708,TWINSUK)
chr6:30951614 (GRCh38.p7) (6p21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
44 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.30951614G>A
GRCh37.p13 chr 6NC_000006.11:g.30919391G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.2431189A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.2431295A>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.2206767G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.2212363G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.2207921G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.2213506G>A

Gene: DPCR1, diffuse panbronchiolitis critical region 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MUCL3 transcriptNM_080870.3:c.315...NM_080870.3:c.3150G>AS [TCG]> S [TCA]Coding Sequence Variant
diffuse panbronchiolitis critical region protein 1 precursorNP_543146.2:p.Ser...NP_543146.2:p.Ser1050=S [Ser]> S [Ser]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.961A=0.039
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=0.984A=0.016
1000GenomesEuropeSub1006G=0.904A=0.096
1000GenomesGlobalStudy-wide5008G=0.961A=0.039
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.838A=0.162
The Exome Aggregation ConsortiumAmericanSub3092G=0.942A=0.058
The Exome Aggregation ConsortiumAsianSub8578G=0.984A=0.016
The Exome Aggregation ConsortiumEuropeSub12386G=0.893A=0.106
The Exome Aggregation ConsortiumGlobalStudy-wide24320G=0.932A=0.068
The Exome Aggregation ConsortiumOtherSub264G=0.930A=0.070
The Genome Aggregation DatabaseAfricanSub8298G=0.932A=0.068
The Genome Aggregation DatabaseAmericanSub814G=0.960A=0.040
The Genome Aggregation DatabaseEast AsianSub1550G=0.978A=0.022
The Genome Aggregation DatabaseEuropeSub17636G=0.864A=0.135
The Genome Aggregation DatabaseGlobalStudy-wide28586G=0.893A=0.106
The Genome Aggregation DatabaseOtherSub288G=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.903A=0.096
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.831A=0.169
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs30940860.00068alcohol dependence20201924

eQTL of rs3094086 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:30919391VARS2ENSG00000137411.12G>A1.6866e-1037409Cerebellum
Chr6:30919391CCHCR1ENSG00000204536.9G>A1.0258e-9-206624Cerebellum
Chr6:30919391VARS2ENSG00000137411.12G>A3.3720e-1137409Frontal_Cortex_BA9
Chr6:30919391VARS2ENSG00000137411.12G>A6.0075e-1437409Cortex
Chr6:30919391VARS2ENSG00000137411.12G>A1.6124e-837409Cerebellar_Hemisphere
Chr6:30919391CCHCR1ENSG00000204536.9G>A6.3052e-8-206624Cerebellar_Hemisphere
Chr6:30919391MICBENSG00000204516.5G>A1.7000e-27-543267Cerebellar_Hemisphere
Chr6:30919391VARS2ENSG00000137411.12G>A6.3004e-1137409Hippocampus
Chr6:30919391VARS2ENSG00000137411.12G>A7.9865e-1337409Anterior_cingulate_cortex
Chr6:30919391VARS2ENSG00000137411.12G>A1.5180e-937409Amygdala

meQTL of rs3094086 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 )
chr63087731330877404E067-41987
chr63088383630883886E067-35505
chr63088398330884086E067-35305
chr63088492330884995E067-34396
chr63088506130885101E067-34290
chr63088087330880923E068-38468
chr63088097130881214E068-38177
chr63088383630883886E068-35505
chr63088398330884086E069-35305
chr63088492330884995E069-34396
chr63088506130885101E069-34290
chr63088097130881214E070-38177
chr63088383630883886E070-35505
chr63088398330884086E070-35305
chr63087731330877404E071-41987
chr63088097130881214E071-38177
chr63088383630883886E071-35505
chr63088398330884086E071-35305
chr63088492330884995E071-34396
chr63092239430922784E0713003
chr63087731330877404E072-41987
chr63088383630883886E072-35505
chr63088398330884086E072-35305
chr63088492330884995E072-34396
chr63088506130885101E072-34290
chr63087731330877404E073-41987
chr63088383630883886E073-35505
chr63088398330884086E073-35305
chr63092916230929212E0739771
chr63092925430929392E0739863
chr63087731330877404E074-41987
chr63088097130881214E074-38177
chr63088383630883886E074-35505
chr63088398330884086E074-35305
chr63088492330884995E074-34396
chr63088506130885101E074-34290
chr63088649830886764E074-32627
chr63088097130881214E081-38177
chr63088383630883886E081-35505
chr63088398330884086E081-35305
chr63087731330877404E082-41987
chr63087794930877994E082-41397
chr63088383630883886E082-35505
chr63088398330884086E082-35305










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63087549130876574E067-42817
chr63092305630924027E0673665
chr63087549130876574E068-42817
chr63092305630924027E0683665
chr63087533030875389E069-44002
chr63087549130876574E069-42817
chr63087549130876574E070-42817
chr63087549130876574E071-42817
chr63092305630924027E0713665
chr63087515030875327E072-44064
chr63087533030875389E072-44002
chr63087549130876574E072-42817
chr63092305630924027E0723665
chr63087549130876574E073-42817
chr63092305630924027E0733665
chr63087549130876574E074-42817
chr63091997030920024E074579
chr63092305630924027E0743665
chr63087549130876574E081-42817
chr63087549130876574E082-42817
chr63092305630924027E0823665