Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
2	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

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

rs_ID	r²[population]
rs1015417	0.90[ASN][1000 genomes]
rs12113634	0.80[CHB][hapmap]
rs1557698	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2396537	0.81[CHB][hapmap]
rs2520468	0.89[ASN][1000 genomes]
rs2520469	0.89[ASN][1000 genomes]
rs2520472	0.89[ASN][1000 genomes]
rs2520479	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2520480	0.89[ASN][1000 genomes]
rs2520481	0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2520483	0.85[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2520484	0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2523036	0.90[ASN][1000 genomes]
rs2523043	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2708591	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708593	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2708599	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs727807	0.85[CHB][hapmap]
rs9640740	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs991632	0.89[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 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	chr7:112046000-112050600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:112046000-112050800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:112046000-112051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:112047800-112048800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:112048400-112050600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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