Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209493055..209495398-chr1:209509454..209511387,2	K562	blood:
2	chr1:209509164..209510795-chr1:209511355..209513007,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12064516	0.88[EUR][1000 genomes]
rs12116965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119465	0.90[EUR][1000 genomes]
rs12120032	0.92[EUR][1000 genomes]
rs12124710	0.90[EUR][1000 genomes]
rs12126305	0.94[EUR][1000 genomes]
rs12126769	0.94[EUR][1000 genomes]
rs12128640	0.88[EUR][1000 genomes]
rs12135244	0.85[EUR][1000 genomes]
rs12136870	0.81[EUR][1000 genomes]
rs12137134	0.90[EUR][1000 genomes]
rs12137788	0.94[EUR][1000 genomes]
rs12139847	0.85[EUR][1000 genomes]
rs12140172	0.85[EUR][1000 genomes]
rs12144443	0.92[EUR][1000 genomes]
rs12144725	0.85[EUR][1000 genomes]
rs12145008	0.94[EUR][1000 genomes]
rs6668608	0.94[EUR][1000 genomes]
rs74155466	0.90[EUR][1000 genomes]
rs74155471	0.88[EUR][1000 genomes]
rs74155478	0.85[EUR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209513600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:209506200-209515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:209508800-209513000	Weak transcription	Fetal Brain Male	brain

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