Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:112186789..112189212-chr7:112536212..112538987,2	K562	blood:
2	chr7:111392109..111392933-chr7:112186478..112187415,3	K562	blood:
3	chr7:112186668..112189403-chr7:112196363..112199344,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1234346	0.86[EUR][1000 genomes]
rs1236840	0.86[EUR][1000 genomes]
rs1859882	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3095042	0.82[AMR][1000 genomes]
rs3095044	0.84[ASN][1000 genomes]
rs3095045	0.90[ASN][1000 genomes]
rs3095047	0.84[ASN][1000 genomes]
rs3095048	0.84[ASN][1000 genomes]
rs3095049	0.90[ASN][1000 genomes]
rs3095051	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3095054	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095057	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3111448	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3111451	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3111452	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3111458	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111459	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3128399	0.92[EUR][1000 genomes]
rs3128411	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3128413	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3128414	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3128422	0.84[ASN][1000 genomes]
rs3128423	0.84[ASN][1000 genomes]
rs3128425	0.84[AMR][1000 genomes]
rs725312	0.82[AMR][1000 genomes]
rs978541	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1801382	chr7:112167436-112205264	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr7:112184200-112187200	Weak transcription	K562	blood
2	chr7:112186800-112187400	Active TSS	HepG2	liver
3	chr7:112186800-112187600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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