Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16435856..16438455-chr21:16677252..16679908,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

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

rs_ID	r²[population]
rs11088345	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483494	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16981452	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16981457	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178903	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178904	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823208	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823210	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4816535	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4816537	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55916325	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57024216	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57072937	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73892445	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73892447	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892454	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977579	0.93[ASN][1000 genomes]
rs9980907	0.93[ASN][1000 genomes]
rs9984391	0.93[ASN][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16674000-16680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:16674400-16680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:16674600-16678400	Weak transcription	Psoas Muscle	Psoas
4	chr21:16675400-16680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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