Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58085320..58088148-chr2:58088783..58090766,2	K562	blood:

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

rs_ID	r²[population]
rs10445894	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1106302	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11684106	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17049185	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176931	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204019	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2678910	0.81[AMR][1000 genomes]
rs2683622	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2683625	0.85[EUR][1000 genomes]
rs2716998	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2716999	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2717068	0.80[AMR][1000 genomes]
rs2717070	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2717072	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2947350	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2947351	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2953437	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2953438	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2953443	0.84[EUR][1000 genomes]
rs66490669	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874199	chr2:58031249-58161520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:58089200-58090200	Flanking Active TSS	A549	lung
2	chr2:58089400-58090000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:58089400-58090200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:58089400-58090800	Enhancers	Muscle Satellite Cultured Cells	--

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