Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:57108993..57111011-chr5:57112837..57114990,3	MCF-7	breast:
2	chr5:57112852..57115326-chr5:57117330..57119876,4	MCF-7	breast:
3	chr5:57112937..57114753-chr5:57754481..57756269,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

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

rs_ID	r²[population]
rs12651983	1.00[JPT][hapmap]
rs2898029	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58133420	0.95[EUR][1000 genomes]
rs58174590	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58436811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59596075	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60783862	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61514760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360074	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62360075	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62360076	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62360101	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62360103	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360105	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360133	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62360137	0.95[EUR][1000 genomes]
rs6865443	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6866728	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960880	1.00[EUR][1000 genomes];1.00[ASN][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	chr5:57111600-57114400	Enhancers	HSMM	muscle
2	chr5:57111600-57114600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:57112000-57114800	Enhancers	HUVEC	blood vessel
4	chr5:57113200-57119600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:57114000-57118000	Weak transcription	HMEC	breast
6	chr5:57114200-57115600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:57114200-57118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:57114200-57119000	Weak transcription	NH-A	brain
9	chr5:57114200-57119400	Weak transcription	Osteobl	bone

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