Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16434158..16440207-chr21:16535498..16546791,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11908720	0.92[EUR][1000 genomes]
rs2223128	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2254223	0.85[EUR][1000 genomes]
rs2823103	0.88[EUR][1000 genomes]
rs2823104	0.89[EUR][1000 genomes]
rs2823105	0.88[EUR][1000 genomes]
rs2823109	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823118	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2823121	0.91[JPT][hapmap]
rs58228216	0.98[EUR][1000 genomes]
rs59210723	0.97[EUR][1000 genomes]
rs59949852	0.90[EUR][1000 genomes]
rs7275196	0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs7279147	0.89[EUR][1000 genomes]
rs7279893	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7282135	0.85[ASN][1000 genomes]
rs965098	0.91[JPT][hapmap]
rs9974170	0.89[EUR][1000 genomes]
rs9974193	0.82[JPT][hapmap]
rs9976384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	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	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16537400-16546000	Weak transcription	Pancreas	Pancrea
2	chr21:16537800-16542600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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