rs4858818

Homo sapiens
C>T
PLXNB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0020 (612/29912,GnomAD)
T==0029 (858/29118,TOPMED)
T==0025 (127/5008,1000G)
T==0000 (0/3854,ALSPAC)
T==0000 (0/3708,TWINSUK)
chr3:48408675 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.48408675C>T
GRCh37.p13 chr 3NC_000003.11:g.48450082T>C

Gene: PLXNB1, plexin B1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PLXNB1 transcript variant 2NM_001130082.2:c.N/AIntron Variant
PLXNB1 transcript variant 1NM_002673.5:c.N/AIntron Variant
PLXNB1 transcript variant X2XM_011533833.2:c.N/AIntron Variant
PLXNB1 transcript variant X3XM_011533834.1:c.N/AIntron Variant
PLXNB1 transcript variant X4XM_011533835.1:c.N/AIntron Variant
PLXNB1 transcript variant X6XM_011533836.1:c.N/AIntron Variant
PLXNB1 transcript variant X7XM_011533837.2:c.N/AIntron Variant
PLXNB1 transcript variant X5XM_017006630.1:c.N/AIntron Variant
PLXNB1 transcript variant X8XM_017006631.1:c.N/AIntron Variant
PLXNB1 transcript variant X9XR_001740177.1:n.N/AIntron Variant
PLXNB1 transcript variant X9XR_940457.2:n.N/AIntron Variant
PLXNB1 transcript variant X11XR_940458.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.092C==0.908
1000GenomesAmericanSub694T=0.010C==0.990
1000GenomesEast AsianSub1008T=0.000C==1.000
1000GenomesEuropeSub1006T=0.001C==0.999
1000GenomesGlobalStudy-wide5008T=0.025C==0.975
1000GenomesSouth AsianSub978T=0.000C==1.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.000C==1.000
The Genome Aggregation DatabaseAfricanSub8704T=0.069C==0.931
The Genome Aggregation DatabaseAmericanSub838T=0.010C==0.990
The Genome Aggregation DatabaseEast AsianSub1620T=0.000C==1.000
The Genome Aggregation DatabaseEuropeSub18448T=0.000C==0.999
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.020C==0.979
The Genome Aggregation DatabaseOtherSub302T=0.000C==1.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.029C==0.970
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.000C==1.000
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs48588180.000868alcohol dependence20201924

eQTL of rs4858818 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 rs4858818 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 )
chr34844309048443237E067-6845
chr34844347848444373E067-5709
chr34846403748464077E06713955
chr34846416648464222E06714084
chr34846482048464944E06714738
chr34846669448467050E06716612
chr34848300848483100E06732926
chr34848317548483225E06733093
chr34848325248483336E06733170
chr34846366948463739E06813587
chr34846377648463861E06813694
chr34846403748464077E06813955
chr34846416648464222E06814084
chr34846669448467050E06816612
chr34848300848483100E06832926
chr34848317548483225E06833093
chr34848325248483336E06833170
chr34848925748489423E06839175
chr34844309048443237E069-6845
chr34844347848444373E069-5709
chr34846366948463739E06913587
chr34846377648463861E06913694
chr34846403748464077E06913955
chr34846416648464222E06914084
chr34847502548475075E06924943
chr34847510448475968E06925022
chr34847723048477902E06927148
chr34848300848483100E06932926
chr34848317548483225E06933093
chr34848325248483336E06933170
chr34848356548483619E06933483
chr34846482048464944E07014738
chr34847234448472388E07022262
chr34847246948472519E07022387
chr34847253148472587E07022449
chr34847264048472707E07022558
chr34847271448472764E07022632
chr34847287848472948E07022796
chr34844638348446432E071-3650
chr34846366948463739E07113587
chr34846377648463861E07113694
chr34846403748464077E07113955
chr34846416648464222E07114084
chr34846482048464944E07114738
chr34847723048477902E07127148
chr34848325248483336E07133170
chr34848356548483619E07133483
chr34848925748489423E07139175
chr34844062548440807E072-9275
chr34844088948441039E072-9043
chr34845518348455233E0725101
chr34845722348457345E0727141
chr34846366948463739E07213587
chr34846377648463861E07213694
chr34846403748464077E07213955
chr34846416648464222E07214084
chr34846669448467050E07216612
chr34847234448472388E07222262
chr34847723048477902E07227148
chr34848300848483100E07232926
chr34848317548483225E07233093
chr34848325248483336E07233170
chr34848356548483619E07233483
chr34848925748489423E07239175
chr34846403748464077E07313955
chr34846416648464222E07314084
chr34846669448467050E07316612
chr34847723048477902E07327148
chr34848325248483336E07333170
chr34848925748489423E07339175
chr34844611548446195E074-3887
chr34844627248446367E074-3715
chr34844638348446432E074-3650
chr34845722348457345E0747141
chr34846366948463739E07413587
chr34846377648463861E07413694
chr34846403748464077E07413955
chr34846416648464222E07414084
chr34847234448472388E07422262
chr34847699448477068E07426912
chr34847710948477176E07427027
chr34847723048477902E07427148
chr34848300848483100E07432926
chr34848317548483225E07433093
chr34848325248483336E07433170
chr34848925748489423E07439175
chr34846669448467050E08116612
chr34846706848467528E08116986
chr34846778148467959E08117699
chr34846799348468265E08117911
chr34847234448472388E08122262
chr34848300848483100E08132926
chr34848317548483225E08133093
chr34848356548483619E08133483
chr34847264048472707E08222558
chr34847271448472764E08222632
chr34848061048480660E08230528
chr34848925748489423E08239175










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr34846974448472260E06719662
chr34848114448482437E06731062
chr34848744048488678E06737358
chr34846974448472260E06819662
chr34848114448482437E06831062
chr34848744048488678E06837358
chr34846974448472260E06919662
chr34848114448482437E06931062
chr34848744048488678E06937358
chr34846974448472260E07019662
chr34848114448482437E07031062
chr34848744048488678E07037358
chr34846974448472260E07119662
chr34848114448482437E07131062
chr34848744048488678E07137358
chr34846974448472260E07219662
chr34848114448482437E07231062
chr34848744048488678E07237358
chr34846974448472260E07319662
chr34848114448482437E07331062
chr34848744048488678E07337358
chr34846974448472260E07419662
chr34848114448482437E07431062
chr34848744048488678E07437358
chr34848114448482437E08131062
chr34848744048488678E08137358
chr34846974448472260E08219662
chr34848114448482437E08231062
chr34848744048488678E08237358