rs1347093

Homo sapiens
G>T
MIR217HG : Intron Variant
LOC105374690 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0196 (5866/29922,GnomAD)
T=0233 (6788/29116,TOPMED)
T=0199 (995/5008,1000G)
T=0210 (811/3854,ALSPAC)
T=0218 (808/3708,TWINSUK)
chr2:56019205 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.56019205G>T
GRCh37.p13 chr 2NC_000002.11:g.56246340G>T

Gene: MIR217HG, MIR217 host gene(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MIR217HG transcriptNR_126406.1:n.N/AIntron Variant

Gene: LOC105374690, uncharacterized LOC105374690(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374690 transcriptXR_940109.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.749T=0.251
1000GenomesAmericanSub694G=0.830T=0.170
1000GenomesEast AsianSub1008G=0.946T=0.054
1000GenomesEuropeSub1006G=0.806T=0.194
1000GenomesGlobalStudy-wide5008G=0.801T=0.199
1000GenomesSouth AsianSub978G=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.790T=0.210
The Genome Aggregation DatabaseAfricanSub8720G=0.736T=0.264
The Genome Aggregation DatabaseAmericanSub838G=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1622G=0.959T=0.041
The Genome Aggregation DatabaseEuropeSub18440G=0.818T=0.181
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.804T=0.196
The Genome Aggregation DatabaseOtherSub302G=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.766T=0.233
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.782T=0.218
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
rs13470930.00045alcohol dependence20201924

eQTL of rs1347093 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 rs1347093 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 )
chr25623545556235706E067-10634
chr25623589556236097E067-10243
chr25623624756236597E067-9743
chr25623545556235706E068-10634
chr25623545556235706E069-10634
chr25623589556236097E069-10243
chr25623545556235706E070-10634
chr25623589556236097E070-10243
chr25623545556235706E071-10634
chr25624289156242941E071-3399
chr25624297556243076E071-3264
chr25623545556235706E072-10634
chr25623589556236097E072-10243
chr25624496456245014E072-1326
chr25624505556245107E072-1233
chr25624511056245199E072-1141
chr25624530456245682E072-658
chr25623545556235706E074-10634
chr25623589556236097E074-10243
chr25623624756236597E074-9743
chr25624496456245014E074-1326
chr25624505556245107E074-1233
chr25624511056245199E074-1141
chr25624530456245682E074-658
chr25623589556236097E081-10243
chr25623624756236597E081-9743
chr25624109156241281E082-5059
chr25624139156241475E082-4865









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr25624581756245965E071-375
chr25624581756245965E074-375