Variant report

Variant	rs4699919
Chromosome Location	chr5:57282006-57282007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10037252	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10053148	0.96[EUR][1000 genomes]
rs10054634	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10068767	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10080109	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1027163	1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs1037559	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10940586	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743935	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1304354	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13173455	1.00[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13186838	1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1349955	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1349956	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378246	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1378247	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1387634	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454907	0.95[ASN][1000 genomes]
rs1454916	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454919	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1454922	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1454923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1489785	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1489787	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1489788	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489789	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1489792	0.89[AMR][1000 genomes]
rs1489796	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1546035	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565339	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1602155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809660	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1826098	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826099	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1840394	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1844436	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1948276	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2015208	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198636	0.89[EUR][1000 genomes]
rs4429810	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6450454	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6450455	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6450456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450457	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892626	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7710627	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714449	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7715831	1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7722307	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7725138	0.92[EUR][1000 genomes]
rs9292147	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9292149	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9292150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971399	0.92[EUR][1000 genomes]
rs995442	0.96[EUR][1000 genomes]
rs995443	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1792273	chr5:57214817-57320343	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv10700	chr5:57277483-57313710	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817904	chr5:57277522-57359476	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1829717	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1830976	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1837615	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1846984	chr5:57277522-57359476	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1850205	chr5:57277522-57359476	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4699919	HSPB3	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57275000-57284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:57277000-57282600	Weak transcription	Aorta	Aorta
3	chr5:57278400-57283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:57281000-57282600	Weak transcription	Fetal Brain Male	brain
5	chr5:57282000-57283600	Enhancers	Cortex derived primary cultured neurospheres	brain

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