Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75001074..75003423-chr4:75007276..75009620,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11947475	1.00[GIH][hapmap]
rs16850659	1.00[GIH][hapmap]
rs476893	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs477628	1.00[AMR][1000 genomes]
rs481763	1.00[AMR][1000 genomes]
rs486172	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs487335	1.00[AMR][1000 genomes]
rs490645	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493800	1.00[AMR][1000 genomes]
rs495740	1.00[AMR][1000 genomes]
rs513726	1.00[AMR][1000 genomes]
rs514044	1.00[AMR][1000 genomes]
rs515780	1.00[AMR][1000 genomes]
rs516508	1.00[AMR][1000 genomes]
rs522698	1.00[GIH][hapmap]
rs530096	1.00[AMR][1000 genomes]
rs531683	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs557131	1.00[AMR][1000 genomes]
rs567157	1.00[AMR][1000 genomes]
rs568187	1.00[AMR][1000 genomes]
rs577889	1.00[AMR][1000 genomes]
rs579228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6825147	1.00[AMR][1000 genomes]
rs6840665	1.00[AMR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75004400-75010600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:75004400-75013800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:75006000-75013200	Weak transcription	HMEC	breast
4	chr4:75007000-75009800	Strong transcription	NHEK	skin
5	chr4:75007800-75009200	Strong transcription	Liver	Liver

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