Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9951257..9953099-chr8:9953951..9956586,3	MCF-7	breast:
2	chr8:9954771..9956774-chr8:9960148..9962685,2	K562	blood:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10097035	0.87[ASN][1000 genomes]
rs11988049	0.87[ASN][1000 genomes]
rs11988116	0.87[ASN][1000 genomes]
rs11998467	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1385255	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17151217	0.91[EUR][1000 genomes]
rs17151222	0.88[EUR][1000 genomes]
rs28514398	1.00[EUR][1000 genomes]
rs28608061	0.87[ASN][1000 genomes]
rs28631074	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs28695225	0.87[ASN][1000 genomes]
rs28698174	0.88[EUR][1000 genomes]
rs28716276	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57611211	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59910149	0.87[ASN][1000 genomes]
rs60066541	0.95[EUR][1000 genomes]
rs73528908	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528929	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528930	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528933	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528936	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528940	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528945	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73530926	0.87[ASN][1000 genomes]
rs73530934	0.87[ASN][1000 genomes]
rs7821075	0.87[ASN][1000 genomes]
rs814416	0.87[ASN][1000 genomes]
rs861497	0.87[ASN][1000 genomes]
rs9693546	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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9952000-9959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9952600-9955200	Active TSS	Brain Anterior Caudate	brain
3	chr8:9952600-9955200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:9952600-9956800	Active TSS	Fetal Brain Female	brain
5	chr8:9952800-9955000	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:9952800-9955000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:9952800-9955400	Active TSS	Brain Angular Gyrus	brain
8	chr8:9952800-9955400	Active TSS	NH-A	brain
9	chr8:9952800-9955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:9953000-9955000	Active TSS	Brain Substantia Nigra	brain
11	chr8:9953000-9955200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:9953200-9955200	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr8:9953200-9955800	Active TSS	Brain Germinal Matrix	brain
14	chr8:9954000-9956200	Active TSS	Fetal Brain Male	brain

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