Variant report

Variant	rs1027163
Chromosome Location	chr5:57252033-57252034
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	chr5:57250868..57253108-chr5:57753265..57756845,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10037252	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053148	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10054634	0.87[EUR][1000 genomes]
rs10068767	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10080109	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1037559	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10940586	0.86[EUR][1000 genomes]
rs11743935	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304354	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13173455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13186838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1349955	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1349956	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs1378246	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1378247	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1387633	0.83[ASN][1000 genomes]
rs1387634	0.86[EUR][1000 genomes]
rs1387636	0.83[ASN][1000 genomes]
rs1387637	0.83[ASN][1000 genomes]
rs1454916	0.86[EUR][1000 genomes]
rs1454919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454922	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1454923	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1489785	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489787	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1489788	0.87[EUR][1000 genomes]
rs1489789	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1489792	0.83[ASN][1000 genomes]
rs1489796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546035	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565339	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1602155	0.87[EUR][1000 genomes]
rs1809660	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1826098	0.86[EUR][1000 genomes]
rs1826099	0.86[EUR][1000 genomes]
rs1840394	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844436	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948276	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1964507	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2015208	0.87[EUR][1000 genomes]
rs2124148	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2198636	0.84[EUR][1000 genomes]
rs35603705	0.82[AMR][1000 genomes]
rs4429810	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699919	0.87[EUR][1000 genomes]
rs6450454	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450455	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6450456	1.00[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs6450457	0.86[EUR][1000 genomes]
rs6864437	0.87[EUR][1000 genomes]
rs6879399	0.84[AMR][1000 genomes]
rs72753316	0.83[ASN][1000 genomes]
rs7710627	0.87[EUR][1000 genomes]
rs7714449	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7715831	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7722307	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292147	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292149	0.87[EUR][1000 genomes]
rs9292150	0.87[EUR][1000 genomes]
rs971399	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs995442	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs995443	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1028794	chr5:57242812-57256096	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1027163	HSPB3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57249600-57252200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:57249600-57253600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:57250800-57254400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:57251000-57254200	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:57251400-57252800	Enhancers	HUVEC	blood vessel

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