rs4725563

Homo sapiens
C>T
TBXAS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0258 (7752/29946,GnomAD)
C==0252 (7347/29118,TOPMED)
C==0257 (1286/5008,1000G)
C==0235 (905/3854,ALSPAC)
C==0216 (801/3708,TWINSUK)
chr7:139954457 (GRCh38.p7) (7q34)
ND
GWASdb2
2   publication(s)
See rs on genome
52 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.139954457C>T
GRCh37.p13 chr 7NC_000007.13:g.139654256C>T
TBXAS1 RefSeqGene LRG_579

Gene: TBXAS1, thromboxane A synthase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TBXAS1 transcript variant 1NM_001061.4:c.N/AIntron Variant
TBXAS1 transcript variant 3NM_001130966.2:c.N/AIntron Variant
TBXAS1 transcript variant 4NM_001166253.1:c.N/AIntron Variant
TBXAS1 transcript variant 5NM_001166254.1:c.N/AIntron Variant
TBXAS1 transcript variant 6NM_001314028.1:c.N/AIntron Variant
TBXAS1 transcript variant 2NM_030984.3:c.N/AIntron Variant
TBXAS1 transcript variant X2XM_011516544.2:c.N/AIntron Variant
TBXAS1 transcript variant X1XM_017012569.1:c.N/AIntron Variant
TBXAS1 transcript variant X3XM_017012570.1:c.N/AIntron Variant
TBXAS1 transcript variant X4XM_017012571.1:c.N/AIntron Variant
TBXAS1 transcript variant X5XM_017012572.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.310T=0.690
1000GenomesAmericanSub694C=0.170T=0.830
1000GenomesEast AsianSub1008C=0.241T=0.759
1000GenomesEuropeSub1006C=0.243T=0.757
1000GenomesGlobalStudy-wide5008C=0.257T=0.743
1000GenomesSouth AsianSub978C=0.280T=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.235T=0.765
The Genome Aggregation DatabaseAfricanSub8718C=0.304T=0.696
The Genome Aggregation DatabaseAmericanSub838C=0.160T=0.840
The Genome Aggregation DatabaseEast AsianSub1614C=0.250T=0.750
The Genome Aggregation DatabaseEuropeSub18474C=0.242T=0.757
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.258T=0.741
The Genome Aggregation DatabaseOtherSub302C=0.260T=0.740
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.252T=0.747
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.216T=0.784
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
19046748Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke.Lemaitre RNAtherosclerosis

P-Value

SNP ID p-value Traits Study
rs47255632.8E-05nicotine smoking19268276

eQTL of rs4725563 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 rs4725563 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 )
chr7139693394139693434E06739138
chr7139693491139693541E06739235
chr7139694158139695801E06739902
chr7139696695139696842E06742439
chr7139694158139695801E06839902
chr7139693095139693186E06938839
chr7139693202139693252E06938946
chr7139693394139693434E06939138
chr7139694158139695801E06939902
chr7139697016139697133E06942760
chr7139701913139702601E06947657
chr7139658335139658385E0704079
chr7139658510139658578E0704254
chr7139658592139658650E0704336
chr7139694158139695801E07039902
chr7139668841139669074E07114585
chr7139669089139669330E07114833
chr7139669375139669455E07115119
chr7139669552139669831E07115296
chr7139692196139692579E07137940
chr7139693394139693434E07139138
chr7139693491139693541E07139235
chr7139694158139695801E07139902
chr7139695967139696007E07141711
chr7139696695139696842E07142439
chr7139697016139697133E07142760
chr7139697137139697597E07142881
chr7139657422139657462E0723166
chr7139657465139657550E0723209
chr7139657570139657738E0723314
chr7139690691139690731E07236435
chr7139690782139690898E07236526
chr7139693095139693186E07238839
chr7139693202139693252E07238946
chr7139693394139693434E07239138
chr7139693491139693541E07239235
chr7139694158139695801E07239902
chr7139701695139701875E07247439
chr7139701913139702601E07247657
chr7139657422139657462E0733166
chr7139657465139657550E0733209
chr7139657570139657738E0733314
chr7139694158139695801E07339902
chr7139693394139693434E07439138
chr7139693491139693541E07439235
chr7139694158139695801E07439902
chr7139695967139696007E07441711
chr7139696695139696842E07442439
chr7139697016139697133E07442760
chr7139697137139697597E07442881
chr7139642601139642753E082-11503
chr7139642816139642895E082-11361