Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75034732..75038167-chr5:75039040..75042363,3	K562	blood:

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

rs_ID	r²[population]
rs10942740	0.82[ASN][1000 genomes]
rs11952534	0.82[ASN][1000 genomes]
rs11953883	0.82[ASN][1000 genomes]
rs1422441	0.82[ASN][1000 genomes]
rs1422442	0.82[ASN][1000 genomes]
rs16872696	0.82[ASN][1000 genomes]
rs16872701	0.82[ASN][1000 genomes]
rs16872710	0.82[ASN][1000 genomes]
rs1991450	0.82[ASN][1000 genomes]
rs2112348	0.82[ASN][1000 genomes]
rs28376795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28564814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3822587	0.82[ASN][1000 genomes]
rs4640771	0.86[AFR][1000 genomes]
rs55817530	0.82[ASN][1000 genomes]
rs55849961	0.82[ASN][1000 genomes]
rs55885461	0.82[ASN][1000 genomes]
rs56348108	0.82[ASN][1000 genomes]
rs56813297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57670471	0.82[ASN][1000 genomes]
rs6873350	0.86[AFR][1000 genomes]
rs6895148	0.82[ASN][1000 genomes]
rs888785	1.00[ASN][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75033200-75035800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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