Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69556547..69558484-chr8:69594454..69596010,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10957442	0.81[ASN][1000 genomes]
rs11780828	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1369225	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1434928	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs1434929	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs1583423	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934837	0.80[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes]
rs1865440	0.82[ASN][1000 genomes]
rs1865441	0.86[ASN][1000 genomes]
rs1897906	0.81[ASN][1000 genomes]
rs1991960	0.86[ASN][1000 genomes]
rs2196255	0.80[CEU][hapmap];0.89[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2196256	0.80[CEU][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2890437	0.82[ASN][1000 genomes]
rs4313142	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4366070	0.92[ASN][1000 genomes]
rs62520961	0.86[ASN][1000 genomes]
rs6982247	0.85[ASN][1000 genomes]
rs7007623	0.85[ASN][1000 genomes]
rs920015	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs961465	0.86[ASN][1000 genomes]
rs968826	0.82[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	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11780358	IL1R2	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69545200-69572800	Weak transcription	Aorta	Aorta
2	chr8:69553200-69560400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:69553200-69560800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:69553200-69560800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:69554000-69559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:69554000-69560600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:69554200-69559600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:69554400-69560600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:69554600-69559800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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