Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48440591..48443452-chr13:48454032..48455862,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1041070	0.85[ASN][1000 genomes]
rs10870820	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2094194	0.85[ASN][1000 genomes]
rs2104373	0.87[AFR][1000 genomes]
rs4941615	0.85[ASN][1000 genomes]
rs4942711	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7318770	0.83[CHB][hapmap]
rs7336972	0.82[ASN][1000 genomes]
rs7984527	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7989231	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs7997802	0.82[CHB][hapmap]
rs9316338	0.99[ASN][1000 genomes]
rs9562773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567939	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9567954	0.85[ASN][1000 genomes]
rs9567955	0.85[ASN][1000 genomes]
rs9567958	0.83[CHB][hapmap]
rs9595815	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs970650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48449000-48464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:48453600-48454600	Enhancers	HMEC	breast
4	chr13:48453600-48454800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:48453600-48454800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:48453800-48471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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