Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27238414-27242313..7:27439194-27449722	K562	blood:

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10259618	1.00[AMR][1000 genomes]
rs11764246	0.87[YRI][hapmap]
rs28361569	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361571	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361572	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28398560	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945712	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6945853	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6977425	1.00[YRI][hapmap]
rs73283955	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283957	1.00[AMR][1000 genomes]
rs73283965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283985	1.00[AMR][1000 genomes]
rs7784618	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784783	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784973	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr7:27444800-27458000	Weak transcription	Pancreas	Pancrea
2	chr7:27444800-27458000	Weak transcription	Stomach Mucosa	stomach
3	chr7:27449000-27449800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:27449000-27451200	Enhancers	Hela-S3	cervix
5	chr7:27449200-27449800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:27449200-27449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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