Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190190556..190194601-chr2:190194832..190198444,3	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10164448	0.85[EUR][1000 genomes]
rs10198505	0.88[EUR][1000 genomes]
rs10755003	0.88[EUR][1000 genomes]
rs1464262	0.88[EUR][1000 genomes]
rs1473999	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1515867	0.88[EUR][1000 genomes]
rs1606931	0.88[EUR][1000 genomes]
rs16831217	0.88[EUR][1000 genomes]
rs16831356	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16841601	0.88[EUR][1000 genomes]
rs17270980	0.88[EUR][1000 genomes]
rs2030293	0.88[EUR][1000 genomes]
rs2102874	0.88[EUR][1000 genomes]
rs2176649	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2351634	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4031918	0.88[EUR][1000 genomes]
rs4666773	0.82[EUR][1000 genomes]
rs56920210	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58288282	0.91[EUR][1000 genomes]
rs58796942	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6434335	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73978612	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73978617	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73978620	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73978626	0.91[AMR][1000 genomes]
rs73978632	0.86[AMR][1000 genomes]
rs73978633	0.86[AMR][1000 genomes]
rs73982009	0.88[EUR][1000 genomes]
rs7591652	0.88[EUR][1000 genomes]
rs7596033	0.88[EUR][1000 genomes]
rs870922	0.88[EUR][1000 genomes]
rs939157	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs939159	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190193800-190202800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:190196400-190204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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