Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53629866..53632112-chr6:53657919..53661067,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

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

rs_ID	r²[population]
rs10498795	0.85[EUR][1000 genomes]
rs1543356	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2223617	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2820217	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2820218	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3000998	0.85[CHB][hapmap]
rs4131378	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4276504	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4357137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs4380749	0.86[EUR][1000 genomes]
rs4397225	0.86[EUR][1000 genomes]
rs4476827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4580851	0.85[EUR][1000 genomes]
rs6905927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[EUR][1000 genomes]
rs6908101	0.80[EUR][1000 genomes]
rs6919924	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925165	0.86[EUR][1000 genomes]
rs761135	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7752696	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9474672	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53601600-53638000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:53618800-53635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:53619400-53633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:53629400-53633600	Enhancers	HSMMtube	muscle
5	chr6:53630400-53633200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:53630400-53633400	Weak transcription	NHEK	skin
7	chr6:53630400-53634400	Weak transcription	Placenta	Placenta
8	chr6:53630400-53634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:53630600-53631800	Weak transcription	Gastric	stomach
10	chr6:53630800-53631800	Weak transcription	Placenta Amnion	Placenta Amnion

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