rs7249702

Homo sapiens
G>A
RLN3 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0328 (9817/29888,GnomAD)
A=0385 (11234/29118,TOPMED)
A=0398 (1992/5008,1000G)
A=0183 (707/3854,ALSPAC)
A=0184 (684/3708,TWINSUK)
chr19:14027400 (GRCh38.p7) (19p13.12)
AD
GWASdb2
2   publication(s)
See rs on genome
88 Enhancers around
33 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.14027400G>A
GRCh37.p13 chr 19NC_000019.9:g.14138212G>A

Gene: RLN3, relaxin 3(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
RLN3 transcript variant 2NM_001311197.1:c.N/AUpstream Transcript Variant
RLN3 transcript variant 1NM_080864.3:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.338A=0.662
1000GenomesAmericanSub694G=0.770A=0.230
1000GenomesEast AsianSub1008G=0.621A=0.379
1000GenomesEuropeSub1006G=0.824A=0.176
1000GenomesGlobalStudy-wide5008G=0.602A=0.398
1000GenomesSouth AsianSub978G=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.817A=0.183
The Genome Aggregation DatabaseAfricanSub8690G=0.375A=0.625
The Genome Aggregation DatabaseAmericanSub838G=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1602G=0.554A=0.446
The Genome Aggregation DatabaseEuropeSub18456G=0.815A=0.184
The Genome Aggregation DatabaseGlobalStudy-wide29888G=0.671A=0.328
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.614A=0.385
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.816A=0.184
PMID Title Author Journal
21693553Relaxin polymorphisms associated with metabolic disturbance in patients treated with antipsychotics.Munro JJ Psychopharmacol
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs72497024.31E-05alcohol consumption23743675

eQTL of rs7249702 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 rs7249702 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 )
chr191410331014103398E067-34814
chr191410510614105156E067-33056
chr191410524214105294E067-32918
chr191410586214106484E067-31728
chr191411319714113981E067-24231
chr191411400114114804E067-23408
chr191411486514114927E067-23285
chr191411501114115127E067-23085
chr191411522814115339E067-22873
chr191415322114153441E06715009
chr191415391114154328E06715699
chr191409912814099231E068-38981
chr191409923414099351E068-38861
chr191411400114114804E068-23408
chr191411486514114927E068-23285
chr191409912814099231E069-38981
chr191409923414099351E069-38861
chr191409935314099525E069-38687
chr191409984514100006E069-38206
chr191410510614105156E069-33056
chr191411319714113981E069-24231
chr191411400114114804E069-23408
chr191411486514114927E069-23285
chr191415391114154328E06915699
chr191416982414170155E06931612
chr191409115614091566E071-46646
chr191409159014091665E071-46547
chr191409172714092135E071-46077
chr191409912814099231E071-38981
chr191409923414099351E071-38861
chr191409935314099525E071-38687
chr191409984514100006E071-38206
chr191410331014103398E071-34814
chr191410359414103682E071-34530
chr191410381214103885E071-34327
chr191410423214104282E071-33930
chr191410432114104371E071-33841
chr191410445014104949E071-33263
chr191410510614105156E071-33056
chr191411319714113981E071-24231
chr191411400114114804E071-23408
chr191411486514114927E071-23285
chr191411501114115127E071-23085
chr191411522814115339E071-22873
chr191415344314153846E07115231
chr191409912814099231E072-38981
chr191409923414099351E072-38861
chr191409935314099525E072-38687
chr191409984514100006E072-38206
chr191410423214104282E072-33930
chr191410432114104371E072-33841
chr191410445014104949E072-33263
chr191410510614105156E072-33056
chr191410524214105294E072-32918
chr191410586214106484E072-31728
chr191411296014113030E072-25182
chr191411319714113981E072-24231
chr191411400114114804E072-23408
chr191411486514114927E072-23285
chr191411501114115127E072-23085
chr191411522814115339E072-22873
chr191415344314153846E07215231
chr191415391114154328E07215699
chr191418158614181708E07243374
chr191418176014181852E07243548
chr191409590714098932E073-39280
chr191409912814099231E073-38981
chr191409923414099351E073-38861
chr191409935314099525E073-38687
chr191410213814102188E073-36024
chr191410236714102489E073-35723
chr191410280714102863E073-35349
chr191410331014103398E073-34814
chr191410359414103682E073-34530
chr191410510614105156E073-33056
chr191411319714113981E073-24231
chr191411400114114804E073-23408
chr191411486514114927E073-23285
chr191411501114115127E073-23085
chr191411522814115339E073-22873
chr191415391114154328E07315699
chr191409912814099231E074-38981
chr191409923414099351E074-38861
chr191409935314099525E074-38687
chr191411319714113981E074-24231
chr191411400114114804E074-23408
chr191411522814115339E074-22873
chr191411522814115339E081-22873








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191411538514118373E067-19839
chr191414168814143550E0673476
chr191418253114186393E06744319
chr191411538514118373E068-19839
chr191414168814143550E0683476
chr191416761014168861E06829398
chr191418253114186393E06844319
chr191411538514118373E069-19839
chr191414168814143550E0693476
chr191416761014168861E06929398
chr191418253114186393E06944319
chr191411538514118373E070-19839
chr191414168814143550E0703476
chr191416761014168861E07029398
chr191411538514118373E071-19839
chr191414168814143550E0713476
chr191416761014168861E07129398
chr191418253114186393E07144319
chr191411538514118373E072-19839
chr191414168814143550E0723476
chr191416761014168861E07229398
chr191418253114186393E07244319
chr191411538514118373E073-19839
chr191414168814143550E0733476
chr191416761014168861E07329398
chr191418253114186393E07344319
chr191411538514118373E074-19839
chr191414168814143550E0743476
chr191418253114186393E07444319
chr191411538514118373E082-19839
chr191414168814143550E0823476
chr191416761014168861E08229398
chr191418253114186393E08244319