rs1004988

Homo sapiens
T>G
MIR4280 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0115 (3463/29974,GnomAD)
T==0079 (2315/29118,TOPMED)
T==0042 (210/5008,1000G)
T==0143 (550/3854,ALSPAC)
T==0141 (524/3708,TWINSUK)
chr5:87115181 (GRCh38.p7) (5q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.87115181T>G
GRCh37.p13 chr 5NC_000005.9:g.86410998T>G

Gene: MIR4280, microRNA 4280(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MIR4280 transcriptNR_036243.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.010G=0.990
1000GenomesAmericanSub694T=0.050G=0.950
1000GenomesEast AsianSub1008T=0.001G=0.999
1000GenomesEuropeSub1006T=0.137G=0.863
1000GenomesGlobalStudy-wide5008T=0.042G=0.958
1000GenomesSouth AsianSub978T=0.020G=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.143G=0.857
The Genome Aggregation DatabaseAfricanSub8724T=0.027G=0.973
The Genome Aggregation DatabaseAmericanSub836T=0.080G=0.920
The Genome Aggregation DatabaseEast AsianSub1622T=0.002G=0.998
The Genome Aggregation DatabaseEuropeSub18490T=0.168G=0.831
The Genome Aggregation DatabaseGlobalStudy-wide29974T=0.115G=0.884
The Genome Aggregation DatabaseOtherSub302T=0.130G=0.870
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.079G=0.920
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.141G=0.859
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs10049883.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1004988 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 rs1004988 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 )
chr58643368186433759E06722683
chr58643376586434291E06722767
chr58643376586434291E06922767
chr58643435986434607E06923361
chr58637691686377244E071-33754
chr58641606986417749E0715071
chr58641904586419098E0718047
chr58641917486419235E0718176
chr58643206386432200E07121065
chr58643311486433179E07122116
chr58643322386433374E07122225
chr58643368186433759E07122683
chr58643376586434291E07122767
chr58643435986434607E07123361
chr58641606986417749E0725071
chr58643206386432200E07321065
chr58643368186433759E07322683
chr58643376586434291E07322767
chr58641606986417749E0745071
chr58643206386432200E07421065
chr58643368186433759E07422683
chr58643376586434291E07422767
chr58643435986434607E07423361