Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80593040..80595743-chr16:80600736..80603732,2	K562	blood:
2	chr16:80588433..80592032-chr16:80592068..80595320,4	K562	blood:

Variant related genes	Relation type
ENSG00000260737	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16953630	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4258630	1.00[EUR][1000 genomes]
rs4291914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186842	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7187446	1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188110	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191601	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206475	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs726811	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580250	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580255	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580262	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580273	1.00[EUR][1000 genomes]
rs73580290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580293	1.00[EUR][1000 genomes]
rs73580295	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580299	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588482	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588498	1.00[EUR][1000 genomes]
rs73588500	1.00[EUR][1000 genomes]
rs74029692	1.00[EUR][1000 genomes]
rs8049769	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][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	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80592400-80593600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:80592400-80593600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:80592600-80593600	Enhancers	NHEK	skin

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