Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:80589493..80592966-chr16:80593921..80596964,3	MCF-7	breast:
2	chr16:80595839..80600096-chr16:80600224..80603898,5	MCF-7	breast:
3	chr16:80576616..80579351-chr16:80593938..80597383,3	MCF-7	breast:
4	chr16:80594243..80596595-chr16:80599585..80602236,2	K562	blood:

Variant related genes	Relation type
ENSG00000260737	Chromatin interaction
ENSG00000168589	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11644889	0.88[EUR][1000 genomes]
rs11649558	0.88[EUR][1000 genomes]
rs11866994	0.82[EUR][1000 genomes]
rs12443848	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12444563	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12445674	0.81[EUR][1000 genomes]
rs12448344	0.96[ASN][1000 genomes]
rs12597089	0.81[EUR][1000 genomes]
rs12597602	0.81[EUR][1000 genomes]
rs12600027	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12934612	0.82[EUR][1000 genomes]
rs13335321	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28542735	0.82[EUR][1000 genomes]
rs28589320	0.82[EUR][1000 genomes]
rs4302045	0.89[EUR][1000 genomes]
rs4334316	0.92[EUR][1000 genomes]
rs4392092	0.83[ASN][1000 genomes]
rs4534859	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4622526	0.82[EUR][1000 genomes]
rs4889162	0.83[AMR][1000 genomes]
rs59416398	0.87[EUR][1000 genomes]
rs6564762	0.81[EUR][1000 genomes]
rs6564763	0.81[EUR][1000 genomes]
rs7190759	0.81[EUR][1000 genomes]
rs8182107	0.81[EUR][1000 genomes]
rs966670	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9935465	0.86[AMR][1000 genomes];0.85[ASN][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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80596400-80596600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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