Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57149775..57152424-chr5:57165683..57168680,2	K562	blood:

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

rs_ID	r²[population]
rs2898029	0.95[EUR][1000 genomes]
rs58133420	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58174590	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58436811	0.95[EUR][1000 genomes]
rs59596075	0.95[EUR][1000 genomes]
rs60783862	0.95[EUR][1000 genomes]
rs61514760	0.95[EUR][1000 genomes]
rs62360074	0.95[EUR][1000 genomes]
rs62360075	0.95[EUR][1000 genomes]
rs62360076	0.95[EUR][1000 genomes]
rs62360101	0.95[EUR][1000 genomes]
rs62360103	0.95[EUR][1000 genomes]
rs62360104	0.95[EUR][1000 genomes]
rs62360105	0.95[EUR][1000 genomes]
rs62360106	0.81[EUR][1000 genomes]
rs62360109	0.95[EUR][1000 genomes]
rs62360110	0.95[EUR][1000 genomes]
rs62360133	1.00[EUR][1000 genomes]
rs6865443	0.95[EUR][1000 genomes]
rs6866728	0.95[EUR][1000 genomes]
rs7723284	0.95[EUR][1000 genomes]
rs960880	0.95[EUR][1000 genomes]

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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57146600-57152600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:57147800-57151400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:57148000-57151600	Weak transcription	NHEK	skin
5	chr5:57150200-57151200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:57150200-57152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:57150600-57153000	Weak transcription	Fetal Heart	heart
8	chr5:57150600-57154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:57151000-57154400	Weak transcription	Right Atrium	heart

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