Variant report

Variant	rs13279522
Chromosome Location	chr8:66974252-66974253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66971479..66974707-chr8:66974890..66977947,4	K562	blood:
2	chr8:66967974..66973284-chr8:66974182..66976883,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10100725	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10113415	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10957366	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11778990	0.83[ASN][1000 genomes]
rs11785596	0.82[ASN][1000 genomes]
rs11993997	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11997605	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13252033	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs13252592	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13253129	0.90[ASN][1000 genomes]
rs13253380	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs13257752	0.90[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs13264487	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13266516	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13274510	0.82[ASN][1000 genomes]
rs13276881	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs13282248	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs1870394	0.81[CHB][hapmap]
rs28825143	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4262310	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4419797	0.80[CHB][hapmap]
rs4628244	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6472245	1.00[CEU][hapmap]
rs6472246	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6472247	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6472248	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6990045	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990839	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6999100	0.85[CHB][hapmap]
rs7006394	1.00[CEU][hapmap]
rs7006611	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7009913	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7010033	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7014971	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7016922	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7017358	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs71515499	0.87[ASN][1000 genomes]
rs7824630	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7825257	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7827531	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7835214	0.85[CHB][hapmap]
rs7843077	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs884839	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9298109	0.86[CEU][hapmap];0.95[JPT][hapmap]
rs9298110	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Coronary heart disease event reduction in response to statin therapy (interaction)	22666496	GWAS catalog

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66970600-66975400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:66970800-66975200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:66971000-66975800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:66971200-66976600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:66973200-66975000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:66973600-66974600	Weak transcription	Stomach Mucosa	stomach
7	chr8:66973600-66977600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:66974000-66974400	Enhancers	A549	lung
9	chr8:66974200-66974400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:66974200-66974400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:66974200-66974400	Enhancers	Gastric	stomach

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