Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:9824972..9827874-chr3:179888956..179891080,2	MCF-7	breast:
2	chr3:179888173..179890774-chr3:179892672..179895400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264063	Chromatin interaction
ENSG00000264462	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11914894	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11929255	1.00[EUR][1000 genomes]
rs11929256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1608798	1.00[EUR][1000 genomes]
rs2091272	1.00[EUR][1000 genomes]
rs2177724	1.00[EUR][1000 genomes]
rs6800776	1.00[EUR][1000 genomes]
rs6810369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73885426	1.00[EUR][1000 genomes]
rs73885431	1.00[EUR][1000 genomes]
rs73885436	1.00[EUR][1000 genomes]
rs9814266	1.00[EUR][1000 genomes]
rs9818608	1.00[EUR][1000 genomes]
rs9820212	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9833625	1.00[EUR][1000 genomes]
rs9838211	1.00[EUR][1000 genomes]
rs9841350	1.00[EUR][1000 genomes]
rs9842185	1.00[EUR][1000 genomes]
rs9857266	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9858261	1.00[EUR][1000 genomes]
rs9859636	1.00[EUR][1000 genomes]
rs9878194	1.00[EUR][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	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv878040	chr3:179823887-180128288	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island 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	chr3:179885400-179898200	Weak transcription	HMEC	breast
2	chr3:179887400-179889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:179887400-179890400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:179889200-179889600	Enhancers	HUES48 Cell Line	embryonic stem cell

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