Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:64562392..64565370-chr2:64749896..64752610,2	K562	blood:
2	chr2:64564168..64566762-chr2:64680101..64682837,2	MCF-7	breast:
3	chr2:64557054..64559037-chr2:64562758..64565482,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10203643	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10865345	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682772	0.85[EUR][1000 genomes]
rs11683866	0.83[ASN][1000 genomes]
rs1365474	0.82[ASN][1000 genomes]
rs1365475	0.81[ASN][1000 genomes]
rs1426699	0.83[ASN][1000 genomes]
rs1426701	0.83[ASN][1000 genomes]
rs1426702	0.83[ASN][1000 genomes]
rs1426703	0.82[ASN][1000 genomes]
rs2059630	0.83[ASN][1000 genomes]
rs2162380	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4343453	0.82[EUR][1000 genomes]
rs4671086	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671561	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671562	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671563	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7565077	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs919122	0.81[ASN][1000 genomes]
rs9917300	0.83[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	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64554800-64565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:64558200-64566000	Weak transcription	HMEC	breast
3	chr2:64559400-64566000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:64559600-64566000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:64559800-64565400	Weak transcription	Placenta	Placenta
6	chr2:64564200-64566200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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