Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67521312..67523187-chr2:67535421..67537676,2	K562	blood:

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

rs_ID	r²[population]
rs1384743	0.87[EUR][1000 genomes]
rs1384744	0.87[EUR][1000 genomes]
rs17603029	0.87[EUR][1000 genomes]
rs2170703	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4274583	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4605358	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56880806	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58349979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60181254	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156538	0.87[EUR][1000 genomes]
rs62156540	0.87[EUR][1000 genomes]
rs62156541	0.87[EUR][1000 genomes]
rs62156542	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62156547	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62158281	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62158282	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6741192	0.86[EUR][1000 genomes]
rs7573357	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7606736	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs874236	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:67531000-67536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:67532000-67538800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:67535400-67535800	Weak transcription	Fetal Lung	lung
4	chr2:67535400-67539400	Enhancers	NHDF-Ad	bronchial

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