Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120096968..120103471-chr8:120218555..120222838,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11573823	1.00[CHB][hapmap]
rs11573846	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11573847	1.00[CHB][hapmap]
rs11573878	1.00[CHB][hapmap]
rs11573884	1.00[CHB][hapmap]
rs11573888	1.00[CHB][hapmap]
rs13252678	0.88[EUR][1000 genomes]
rs13270766	1.00[CHB][hapmap]
rs13270860	1.00[CHB][hapmap]
rs13282510	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385502	1.00[CHB][hapmap]
rs1564858	1.00[CHB][hapmap]
rs16891976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17179200	1.00[CHB][hapmap]
rs34327040	0.92[EUR][1000 genomes]
rs35574102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4317610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4460404	1.00[CHB][hapmap]
rs4537331	1.00[CHB][hapmap]
rs6469783	1.00[CHB][hapmap]
rs6995365	1.00[CHB][hapmap]
rs71532417	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71532418	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828837	1.00[CHB][hapmap]
rs7837001	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3418988	chr8:120096863-120097406	Weak transcription	Chromatin interactive region	1 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	chr8:120095600-120098600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120095600-120098600	Weak transcription	Liver	Liver
3	chr8:120095600-120098600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:120095600-120098600	Weak transcription	Fetal Lung	lung
5	chr8:120095800-120098200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:120095800-120099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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