rs4373300

Homo sapiens
G>A
OSMR-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0257 (7719/29926,GnomAD)
A=0247 (7201/29118,TOPMED)
A=0234 (1171/5008,1000G)
A=0279 (1077/3854,ALSPAC)
A=0267 (989/3708,TWINSUK)
chr5:38798647 (GRCh38.p7) (5p13.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.38798647G>A
GRCh37.p13 chr 5NC_000005.9:g.38798749G>A

Gene: OSMR-AS1, OSMR antisense RNA 1 (head to head)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OSMR-AS1 transcriptNR_109951.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.863A=0.137
1000GenomesAmericanSub694G=0.550A=0.450
1000GenomesEast AsianSub1008G=0.880A=0.120
1000GenomesEuropeSub1006G=0.732A=0.268
1000GenomesGlobalStudy-wide5008G=0.766A=0.234
1000GenomesSouth AsianSub978G=0.710A=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.721A=0.279
The Genome Aggregation DatabaseAfricanSub8702G=0.830A=0.170
The Genome Aggregation DatabaseAmericanSub836G=0.600A=0.400
The Genome Aggregation DatabaseEast AsianSub1620G=0.882A=0.118
The Genome Aggregation DatabaseEuropeSub18466G=0.695A=0.305
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.742A=0.257
The Genome Aggregation DatabaseOtherSub302G=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.752A=0.247
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.733A=0.267
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs43733004.67E-06alcohol consumption23953852

eQTL of rs4373300 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 rs4373300 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 )
chr53875897638759733E067-39016
chr53878099738781450E067-17299
chr53878305838783952E067-14797
chr53878058138780715E068-18034
chr53878099738781450E068-17299
chr53878166638781720E068-17029
chr53878236938782449E068-16300
chr53878270038782760E068-15989
chr53878305838783952E068-14797
chr53880928638810409E06810537
chr53878058138780715E069-18034
chr53878099738781450E069-17299
chr53878305838783952E069-14797
chr53879616838797023E069-1726
chr53880928638810409E06910537
chr53875897638759733E070-39016
chr53875897638759733E071-39016
chr53878058138780715E071-18034
chr53878099738781450E071-17299
chr53878305838783952E071-14797
chr53878400138784056E071-14693
chr53880928638810409E07110537
chr53883172938831905E07132980
chr53883197738832189E07133228
chr53876502638766636E072-32113
chr53878305838783952E072-14797
chr53880675538807404E0728006
chr53880928638810409E07210537
chr53881043538810485E07211686
chr53881052538810613E07211776
chr53878305838783952E073-14797
chr53880928638810409E07310537
chr53875897638759733E074-39016
chr53878099738781450E074-17299
chr53878305838783952E074-14797
chr53879616838797023E074-1726
chr53880928638810409E07410537
chr53875897638759733E081-39016
chr53880879438808897E08210045










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr53884543438847184E06746685
chr53884719538847296E06748446
chr53884495238845096E06846203
chr53884543438847184E06846685
chr53884719538847296E06848446
chr53884735138847506E06848602
chr53884753538847714E06848786
chr53884774138848151E06848992
chr53884495238845096E06946203
chr53884543438847184E06946685
chr53884719538847296E06948446
chr53884470738844779E07145958
chr53884495238845096E07146203
chr53884543438847184E07146685
chr53884719538847296E07148446
chr53884735138847506E07148602
chr53884753538847714E07148786
chr53884774138848151E07148992
chr53884495238845096E07246203
chr53884543438847184E07246685
chr53884719538847296E07248446
chr53884470738844779E07345958
chr53884495238845096E07346203
chr53884543438847184E07346685
chr53884719538847296E07348446
chr53884543438847184E07446685
chr53884719538847296E07448446
chr53884735138847506E07448602
chr53884543438847184E08246685