Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84533065..84535420-chr7:84561448..84563538,2	K562	blood:
2	chr7:84529973..84531867-chr7:84533645..84535945,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10247311	0.88[ASN][1000 genomes]
rs10256480	0.93[EUR][1000 genomes]
rs10267063	0.93[EUR][1000 genomes]
rs10277279	0.93[EUR][1000 genomes]
rs11767793	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12155210	0.90[ASN][1000 genomes]
rs12707690	0.97[EUR][1000 genomes]
rs13232789	0.83[ASN][1000 genomes]
rs1367365	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1835403	0.90[ASN][1000 genomes]
rs1897152	0.95[EUR][1000 genomes]
rs1982019	0.85[ASN][1000 genomes]
rs2099203	0.90[ASN][1000 genomes]
rs28664611	0.93[EUR][1000 genomes]
rs34905624	0.90[ASN][1000 genomes]
rs34931062	0.81[ASN][1000 genomes]
rs35169726	0.90[ASN][1000 genomes]
rs62472060	0.88[ASN][1000 genomes]
rs62472078	0.83[ASN][1000 genomes]
rs705100	0.93[EUR][1000 genomes]
rs7811476	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs782891	0.94[EUR][1000 genomes]
rs782893	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs782895	0.95[EUR][1000 genomes]
rs782902	0.90[ASN][1000 genomes]
rs9649071	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9649072	0.93[EUR][1000 genomes]
rs9649678	0.96[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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 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	chr7:84534200-84537600	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:84534400-84542600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:84534800-84539200	Weak transcription	Gastric	stomach

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