Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20771018..20773981-chr5:107964218..107967198,2	K562	blood:
2	chr5:107960686..107962507-chr5:107964062..107965837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205212	Chromatin interaction
ENSG00000233098	Chromatin interaction

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

rs_ID	r²[population]
rs12109828	1.00[ASN][1000 genomes]
rs13163102	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171274	1.00[JPT][hapmap]
rs34304283	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34465355	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34961984	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35153895	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852631	0.86[EUR][1000 genomes]
rs35858291	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36019130	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36052796	1.00[ASN][1000 genomes]
rs36066723	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59214651	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61236031	0.88[EUR][1000 genomes]
rs6594323	0.89[EUR][1000 genomes]
rs67326538	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67718253	1.00[ASN][1000 genomes]
rs6871967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71592759	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785503	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785509	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7444560	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709109	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1019409	chr5:107934028-107991426	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	5 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	chr5:107954400-107971400	Weak transcription	H9 Cell Line	embryonic stem cell

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