rs7808864

Homo sapiens
A>G
SEMA3A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0178 (5352/29912,GnomAD)
A==0157 (4571/29118,TOPMED)
A==0174 (869/5008,1000G)
A==0216 (833/3854,ALSPAC)
A==0227 (843/3708,TWINSUK)
chr7:84094031 (GRCh38.p7) (7q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.84094031A>G
GRCh37.p13 chr 7NC_000007.13:g.83723347A>G
SEMA3A RefSeqGeneNG_011489.1:g.105871T>C

Gene: SEMA3A, semaphorin 3A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SEMA3A transcriptNM_006080.2:c.N/AIntron Variant
SEMA3A transcript variant X2XM_005250110.3:c.N/AIntron Variant
SEMA3A transcript variant X5XM_005250111.4:c.N/AIntron Variant
SEMA3A transcript variant X3XM_006715839.3:c.N/AIntron Variant
SEMA3A transcript variant X3XM_011515734.2:c.N/AIntron Variant
SEMA3A transcript variant X6XM_017011673.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.082G=0.918
1000GenomesAmericanSub694A=0.160G=0.840
1000GenomesEast AsianSub1008A=0.186G=0.814
1000GenomesEuropeSub1006A=0.228G=0.772
1000GenomesGlobalStudy-wide5008A=0.174G=0.826
1000GenomesSouth AsianSub978A=0.240G=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.216G=0.784
The Genome Aggregation DatabaseAfricanSub8708A=0.107G=0.893
The Genome Aggregation DatabaseAmericanSub838A=0.160G=0.840
The Genome Aggregation DatabaseEast AsianSub1616A=0.185G=0.815
The Genome Aggregation DatabaseEuropeSub18448A=0.212G=0.787
The Genome Aggregation DatabaseGlobalStudy-wide29912A=0.178G=0.821
The Genome Aggregation DatabaseOtherSub302A=0.200G=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.157G=0.843
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.227G=0.773
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs78088640.000493nicotine smoking19268276

eQTL of rs7808864 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 rs7808864 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 )
chr78371542083715610E067-7737
chr78371517583715403E069-7944
chr78371542083715610E069-7737
chr78374199683743249E06918649
chr78374325183744047E06919904
chr78375223683752313E06928889
chr78375231783752367E06928970
chr78375479983754864E06931452
chr78373409283734215E07010745
chr78373423883734536E07010891
chr78373463283734714E07011285
chr78373476283734841E07011415
chr78373902883739068E07015681
chr78373940383739706E07016056
chr78373977083740024E07016423
chr78374199683743249E07118649
chr78375246183752505E07129114
chr78375258083752675E07129233
chr78375274183752781E07129394
chr78371542083715610E072-7737
chr78375246183752505E07229114
chr78375258083752675E07229233
chr78375274183752781E07229394
chr78370280083702882E074-20465
chr78370292983703325E074-20022
chr78373940383739706E07416056
chr78373977083740024E07416423
chr78374199683743249E07418649
chr78374325183744047E07419904
chr78375223683752313E07428889
chr78375231783752367E07428970
chr78375246183752505E07429114
chr78375258083752675E07429233
chr78375274183752781E07429394
chr78375313183753919E07429784
chr78370730583707383E081-15964
chr78374325183744047E08119904
chr78374199683743249E08218649
chr78374325183744047E08219904