Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80090196..80092562-chr16:80093240..80096087,2	K562	blood:
2	chr16:80093355..80094934-chr16:80097295..80099943,2	K562	blood:

Variant related genes	Relation type
ENSG00000260706	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11645922	0.83[EUR][1000 genomes]
rs12921255	0.83[EUR][1000 genomes]
rs13333795	0.82[EUR][1000 genomes]
rs1478505	0.84[EUR][1000 genomes]
rs1478506	0.84[EUR][1000 genomes]
rs4354957	0.84[EUR][1000 genomes]
rs4365299	0.80[EUR][1000 genomes]
rs4402582	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4500741	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4500745	0.84[EUR][1000 genomes]
rs4888067	0.83[EUR][1000 genomes]
rs4889067	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889068	0.84[EUR][1000 genomes]
rs4889084	0.87[EUR][1000 genomes]
rs4889086	0.87[EUR][1000 genomes]
rs4889090	0.87[EUR][1000 genomes]
rs4889092	0.84[EUR][1000 genomes]
rs60053578	0.86[AFR][1000 genomes]
rs6564727	0.85[EUR][1000 genomes]
rs6564728	0.84[EUR][1000 genomes]
rs6564729	0.84[EUR][1000 genomes]
rs6564730	0.84[EUR][1000 genomes]
rs7192544	0.87[EUR][1000 genomes]
rs7192753	0.85[EUR][1000 genomes]
rs8050142	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050160	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8059251	0.87[EUR][1000 genomes]
rs9937844	0.84[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr16:80088400-80095000	Enhancers	Fetal Lung	lung
2	chr16:80088400-80095400	Enhancers	Fetal Stomach	stomach
3	chr16:80089200-80094800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:80092600-80094000	Enhancers	Colon Smooth Muscle	Colon
5	chr16:80092600-80095800	Weak transcription	Aorta	Aorta
6	chr16:80092600-80096800	Weak transcription	Right Atrium	heart
7	chr16:80092600-80097000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:80093600-80094000	Enhancers	Small Intestine	intestine
9	chr16:80093800-80094600	Weak transcription	Esophagus	oesophagus

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