rs386450

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0302 (9045/29910,GnomAD)
G=0334 (9745/29118,TOPMED)
G=0403 (2017/5008,1000G)
G=0195 (752/3854,ALSPAC)
G=0198 (736/3708,TWINSUK)
chr5:14106027 (GRCh38.p7) (5p15.2)
AD
GWASdb2
2   publication(s)
See rs on genome
178 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.14106027A>G
GRCh37.p13 chr 5NC_000005.9:g.14106136A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.483G=0.517
1000GenomesAmericanSub694A=0.730G=0.270
1000GenomesEast AsianSub1008A=0.440G=0.560
1000GenomesEuropeSub1006A=0.793G=0.207
1000GenomesGlobalStudy-wide5008A=0.597G=0.403
1000GenomesSouth AsianSub978A=0.620G=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.805G=0.195
The Genome Aggregation DatabaseAfricanSub8710A=0.543G=0.457
The Genome Aggregation DatabaseAmericanSub836A=0.740G=0.260
The Genome Aggregation DatabaseEast AsianSub1610A=0.419G=0.581
The Genome Aggregation DatabaseEuropeSub18452A=0.791G=0.208
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.697G=0.302
The Genome Aggregation DatabaseOtherSub302A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.665G=0.334
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.802G=0.198
PMID Title Author Journal
23469231Pathway analysis for genome-wide association study of lung cancer in Han Chinese population.Zhang RPLoS One
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
rs3864505.59E-05alcohol consumption23743675

eQTL of rs386450 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 rs386450 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 )
chr51411852814119475E06712392
chr51411955314119624E06713417
chr51411978514119848E06713649
chr51411996414120014E06713828
chr51412005514120118E06713919
chr51414673814146782E06740602
chr51414684814147167E06740712
chr51414735514147639E06741219
chr51414764514147695E06741509
chr51414851814148600E06742382
chr51414883814148892E06742702
chr51414908014149264E06742944
chr51414926814149553E06743132
chr51414981414149949E06743678
chr51414998814150328E06743852
chr51415330614153505E06747170
chr51415372114153848E06747585
chr51415397214154781E06747836
chr51415484014154988E06748704
chr51415525614155489E06749120
chr51415586014156047E06749724
chr51411852814119475E06812392
chr51414226514142341E06836129
chr51414673814146782E06840602
chr51414684814147167E06840712
chr51414735514147639E06841219
chr51414764514147695E06841509
chr51414851814148600E06842382
chr51414883814148892E06842702
chr51414908014149264E06842944
chr51414926814149553E06843132
chr51414981414149949E06843678
chr51414998814150328E06843852
chr51415330614153505E06847170
chr51415372114153848E06847585
chr51415397214154781E06847836
chr51415484014154988E06848704
chr51415525614155489E06849120
chr51415586014156047E06849724
chr51411852814119475E06912392
chr51411955314119624E06913417
chr51411978514119848E06913649
chr51411996414120014E06913828
chr51412005514120118E06913919
chr51412025514120315E06914119
chr51412044514120597E06914309
chr51414673814146782E06940602
chr51414684814147167E06940712
chr51414735514147639E06941219
chr51414764514147695E06941509
chr51414851814148600E06942382
chr51414883814148892E06942702
chr51414908014149264E06942944
chr51414926814149553E06943132
chr51414981414149949E06943678
chr51414998814150328E06943852
chr51415330614153505E06947170
chr51415372114153848E06947585
chr51415397214154781E06947836
chr51411852814119475E07012392
chr51411955314119624E07013417
chr51411978514119848E07013649
chr51411996414120014E07013828
chr51412005514120118E07013919
chr51412025514120315E07014119
chr51412044514120597E07014309
chr51414684814147167E07040712
chr51414735514147639E07041219
chr51414764514147695E07041509
chr51414883814148892E07042702
chr51414908014149264E07042944
chr51414926814149553E07043132
chr51414981414149949E07043678
chr51414998814150328E07043852
chr51415330614153505E07047170
chr51415372114153848E07047585
chr51415397214154781E07047836
chr51415484014154988E07048704
chr51415525614155489E07049120
chr51410863914109019E0712503
chr51411852814119475E07112392
chr51411955314119624E07113417
chr51411978514119848E07113649
chr51411996414120014E07113828
chr51414226514142341E07136129
chr51414673814146782E07140602
chr51414684814147167E07140712
chr51414851814148600E07142382
chr51414883814148892E07142702
chr51414908014149264E07142944
chr51414926814149553E07143132
chr51414981414149949E07143678
chr51414998814150328E07143852
chr51415330614153505E07147170
chr51415372114153848E07147585
chr51415397214154781E07147836
chr51415484014154988E07148704
chr51415525614155489E07149120
chr51411852814119475E07212392
chr51411978514119848E07213649
chr51411996414120014E07213828
chr51412005514120118E07213919
chr51412025514120315E07214119
chr51412044514120597E07214309
chr51414226514142341E07236129
chr51414673814146782E07240602
chr51414684814147167E07240712
chr51414851814148600E07242382
chr51414883814148892E07242702
chr51414908014149264E07242944
chr51414926814149553E07243132
chr51414981414149949E07243678
chr51414998814150328E07243852
chr51415330614153505E07247170
chr51415484014154988E07248704
chr51411852814119475E07312392
chr51411955314119624E07313417
chr51411978514119848E07313649
chr51414735514147639E07341219
chr51414764514147695E07341509
chr51414908014149264E07342944
chr51414926814149553E07343132
chr51414981414149949E07343678
chr51414998814150328E07343852
chr51415330614153505E07347170
chr51415372114153848E07347585
chr51415397214154781E07347836
chr51415484014154988E07348704
chr51415586014156047E07349724
chr51411852814119475E07412392
chr51411955314119624E07413417
chr51411978514119848E07413649
chr51411996414120014E07413828
chr51412005514120118E07413919
chr51412025514120315E07414119
chr51414735514147639E07441219
chr51414764514147695E07441509
chr51414851814148600E07442382
chr51414883814148892E07442702
chr51414908014149264E07442944
chr51414926814149553E07443132
chr51414981414149949E07443678
chr51414998814150328E07443852
chr51415330614153505E07447170
chr51415372114153848E07447585
chr51415397214154781E07447836
chr51415484014154988E07448704
chr51415525614155489E07449120
chr51414202314142110E08135887
chr51414226514142341E08136129
chr51414673814146782E08140602
chr51414684814147167E08140712
chr51414735514147639E08141219
chr51414764514147695E08141509
chr51414851814148600E08142382
chr51414883814148892E08142702
chr51414908014149264E08142944
chr51414926814149553E08143132
chr51414981414149949E08143678
chr51414998814150328E08143852
chr51415156214151809E08145426
chr51415189314151943E08145757
chr51415330614153505E08147170
chr51415372114153848E08147585
chr51415397214154781E08147836
chr51415586014156047E08149724
chr51411852814119475E08212392
chr51411955314119624E08213417
chr51411978514119848E08213649
chr51414883814148892E08242702
chr51414908014149264E08242944
chr51414926814149553E08243132
chr51414981414149949E08243678
chr51414998814150328E08243852
chr51415330614153505E08247170
chr51415372114153848E08247585
chr51415397214154781E08247836
chr51415586014156047E08249724










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51414252714146325E06736391
chr51414252714146325E06836391
chr51414252714146325E06936391
chr51414252714146325E07036391
chr51414252714146325E07136391
chr51414252714146325E07236391
chr51414252714146325E07336391
chr51414252714146325E07436391
chr51414252714146325E08236391