rs7247578

Homo sapiens
C>T
RLN3 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0256 (7655/29856,GnomAD)
T=0314 (9156/29118,TOPMED)
T=0324 (1624/5008,1000G)
T=0140 (539/3854,ALSPAC)
T=0128 (476/3708,TWINSUK)
chr19:14027335 (GRCh38.p7) (19p13.12)
AD
GWASdb2
1   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.14027335C>T
GRCh37.p13 chr 19NC_000019.9:g.14138147C>T

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
1000GenomesAfricanSub1322C=0.451T=0.549
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.691T=0.309
1000GenomesEuropeSub1006C=0.872T=0.128
1000GenomesGlobalStudy-wide5008C=0.676T=0.324
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8698C=0.477T=0.523
The Genome Aggregation DatabaseAmericanSub834C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1604C=0.615T=0.385
The Genome Aggregation DatabaseEuropeSub18418C=0.875T=0.124
The Genome Aggregation DatabaseGlobalStudy-wide29856C=0.743T=0.256
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.685T=0.314
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.872T=0.128
PMID Title Author Journal
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
rs72475784.77E-05alcohol consumption23743675

eQTL of rs7247578 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 rs7247578 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 )
chr191410331014103398E067-34749
chr191410510614105156E067-32991
chr191410524214105294E067-32853
chr191410586214106484E067-31663
chr191411319714113981E067-24166
chr191411400114114804E067-23343
chr191411486514114927E067-23220
chr191411501114115127E067-23020
chr191411522814115339E067-22808
chr191415322114153441E06715074
chr191415391114154328E06715764
chr191409912814099231E068-38916
chr191409923414099351E068-38796
chr191411400114114804E068-23343
chr191411486514114927E068-23220
chr191409912814099231E069-38916
chr191409923414099351E069-38796
chr191409935314099525E069-38622
chr191409984514100006E069-38141
chr191410510614105156E069-32991
chr191411319714113981E069-24166
chr191411400114114804E069-23343
chr191411486514114927E069-23220
chr191415391114154328E06915764
chr191416982414170155E06931677
chr191409115614091566E071-46581
chr191409159014091665E071-46482
chr191409172714092135E071-46012
chr191409912814099231E071-38916
chr191409923414099351E071-38796
chr191409935314099525E071-38622
chr191409984514100006E071-38141
chr191410331014103398E071-34749
chr191410359414103682E071-34465
chr191410381214103885E071-34262
chr191410423214104282E071-33865
chr191410432114104371E071-33776
chr191410445014104949E071-33198
chr191410510614105156E071-32991
chr191411319714113981E071-24166
chr191411400114114804E071-23343
chr191411486514114927E071-23220
chr191411501114115127E071-23020
chr191411522814115339E071-22808
chr191415344314153846E07115296
chr191409912814099231E072-38916
chr191409923414099351E072-38796
chr191409935314099525E072-38622
chr191409984514100006E072-38141
chr191410423214104282E072-33865
chr191410432114104371E072-33776
chr191410445014104949E072-33198
chr191410510614105156E072-32991
chr191410524214105294E072-32853
chr191410586214106484E072-31663
chr191411296014113030E072-25117
chr191411319714113981E072-24166
chr191411400114114804E072-23343
chr191411486514114927E072-23220
chr191411501114115127E072-23020
chr191411522814115339E072-22808
chr191415344314153846E07215296
chr191415391114154328E07215764
chr191418158614181708E07243439
chr191418176014181852E07243613
chr191409590714098932E073-39215
chr191409912814099231E073-38916
chr191409923414099351E073-38796
chr191409935314099525E073-38622
chr191410213814102188E073-35959
chr191410236714102489E073-35658
chr191410280714102863E073-35284
chr191410331014103398E073-34749
chr191410359414103682E073-34465
chr191410510614105156E073-32991
chr191411319714113981E073-24166
chr191411400114114804E073-23343
chr191411486514114927E073-23220
chr191411501114115127E073-23020
chr191411522814115339E073-22808
chr191415391114154328E07315764
chr191409912814099231E074-38916
chr191409923414099351E074-38796
chr191409935314099525E074-38622
chr191411319714113981E074-24166
chr191411400114114804E074-23343
chr191411522814115339E074-22808
chr191411522814115339E081-22808








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191411538514118373E067-19774
chr191414168814143550E0673541
chr191418253114186393E06744384
chr191411538514118373E068-19774
chr191414168814143550E0683541
chr191416761014168861E06829463
chr191418253114186393E06844384
chr191411538514118373E069-19774
chr191414168814143550E0693541
chr191416761014168861E06929463
chr191418253114186393E06944384
chr191411538514118373E070-19774
chr191414168814143550E0703541
chr191416761014168861E07029463
chr191411538514118373E071-19774
chr191414168814143550E0713541
chr191416761014168861E07129463
chr191418253114186393E07144384
chr191411538514118373E072-19774
chr191414168814143550E0723541
chr191416761014168861E07229463
chr191418253114186393E07244384
chr191411538514118373E073-19774
chr191414168814143550E0733541
chr191416761014168861E07329463
chr191418253114186393E07344384
chr191411538514118373E074-19774
chr191414168814143550E0743541
chr191418253114186393E07444384
chr191411538514118373E082-19774
chr191414168814143550E0823541
chr191416761014168861E08229463
chr191418253114186393E08244384