Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47573030..47576017-chr3:47582888..47584561,3	K562	blood:
2	chr3:47574471..47577289-chr3:47582862..47584561,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1038391	1.00[EUR][1000 genomes]
rs1038393	0.89[AMR][1000 genomes]
rs11130134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11714816	1.00[EUR][1000 genomes]
rs13077134	0.89[AMR][1000 genomes]
rs1486916	1.00[EUR][1000 genomes]
rs2170814	1.00[EUR][1000 genomes]
rs2351249	1.00[EUR][1000 genomes]
rs295434	0.89[AMR][1000 genomes]
rs295448	0.89[AMR][1000 genomes]
rs295451	0.89[AMR][1000 genomes]
rs295457	0.89[AMR][1000 genomes]
rs4383546	1.00[EUR][1000 genomes]
rs448018	0.89[AMR][1000 genomes]
rs4858833	1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6770690	0.80[AFR][1000 genomes]
rs6789730	0.89[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7621853	0.89[AMR][1000 genomes]
rs900688	0.89[AMR][1000 genomes]
rs900692	0.89[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv33034	chr3:47565429-47578605	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr3:47574400-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:47574800-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:47575200-47576400	Flanking Active TSS	K562	blood
4	chr3:47575600-47575800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:47575600-47575800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:47575600-47576200	Enhancers	NHEK	skin

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