Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:80060384..80062821-chr16:80069228..80071837,2	MCF-7	breast:
2	chr16:80063723..80065397-chr16:80069694..80072039,2	MCF-7	breast:
3	chr16:80068483..80072051-chr16:80072534..80075808,4	K562	blood:
4	chr16:80071404..80074131-chr16:80075886..80077558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260237	Chromatin interaction

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

rs_ID	r²[population]
rs11639913	0.80[ASN][1000 genomes]
rs11642318	0.81[ASN][1000 genomes]
rs11859577	0.98[ASN][1000 genomes]
rs11862722	0.83[ASN][1000 genomes]
rs12051191	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12597421	0.95[EUR][1000 genomes]
rs12597942	0.92[EUR][1000 genomes]
rs12918435	0.82[ASN][1000 genomes]
rs4286117	0.94[EUR][1000 genomes]
rs4441287	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4461085	0.93[EUR][1000 genomes]
rs4486901	0.82[ASN][1000 genomes]
rs4617874	0.87[ASN][1000 genomes]
rs4888066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889074	0.84[ASN][1000 genomes]
rs4889075	0.84[ASN][1000 genomes]
rs4889077	0.99[ASN][1000 genomes]
rs6564725	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7189965	0.88[ASN][1000 genomes]
rs7194550	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7196219	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9929398	0.99[ASN][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80062000-80075000	Weak transcription	NH-A	brain
2	chr16:80064000-80072400	Weak transcription	Esophagus	oesophagus
3	chr16:80064400-80072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:80064600-80072200	Weak transcription	NHEK	skin
5	chr16:80064600-80073600	Weak transcription	HMEC	breast
6	chr16:80070200-80074800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:80070800-80074200	Weak transcription	Placenta Amnion	Placenta Amnion

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