Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124855835..124858574-chr5:124862134..124863991,2	K562	blood:

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

rs_ID	r²[population]
rs10076374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13157757	0.81[EUR][1000 genomes]
rs1598817	0.82[EUR][1000 genomes]
rs2220621	0.81[EUR][1000 genomes]
rs59771425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60696888	0.81[EUR][1000 genomes]
rs61202049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62373366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62373367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62373368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62373384	0.96[EUR][1000 genomes]
rs62373385	0.96[EUR][1000 genomes]
rs62373387	0.89[EUR][1000 genomes]
rs62373389	0.89[EUR][1000 genomes]
rs62373392	0.81[EUR][1000 genomes]
rs62373412	0.81[EUR][1000 genomes]
rs6899200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710810	0.81[EUR][1000 genomes]
rs7717300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7728701	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv882825	chr5:124836528-124877035	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv882826	chr5:124840910-124875058	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124857800-124863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:124860000-124862800	Weak transcription	Right Atrium	heart
3	chr5:124861400-124862400	Weak transcription	HMEC	breast
4	chr5:124861400-124862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:124861400-124871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:124861600-124862600	Weak transcription	HSMMtube	muscle
7	chr5:124861600-124862600	Weak transcription	NHEK	skin
8	chr5:124861600-124862800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:124861800-124863400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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