Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40253690..40256394-chr21:40265438..40267658,2	MCF-7	breast:
2	chr21:40254991..40257850-chr21:40263052..40264754,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227721	Chromatin interaction
ENSG00000272015	Chromatin interaction

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

rs_ID	r²[population]
rs1734596	0.84[ASN][1000 genomes]
rs2836734	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836738	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836739	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836741	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs458885	0.87[ASN][1000 genomes]
rs458933	0.87[ASN][1000 genomes]
rs465612	0.87[ASN][1000 genomes]
rs467872	0.87[ASN][1000 genomes]
rs468641	0.87[ASN][1000 genomes]
rs468708	0.87[ASN][1000 genomes]
rs468939	0.87[ASN][1000 genomes]
rs469190	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs469221	0.85[ASN][1000 genomes]
rs469242	0.87[ASN][1000 genomes]
rs469495	0.87[ASN][1000 genomes]
rs469589	0.87[ASN][1000 genomes]
rs62217841	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7283582	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9983650	1.00[EUR][1000 genomes];0.87[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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587478	chr21:40243459-40275033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 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	chr21:40247800-40259400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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