Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103875385..103877214-chr8:103958627..103960858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3758091	0.82[EUR][1000 genomes]
rs3808542	0.82[EUR][1000 genomes]
rs4295632	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60470921	0.82[EUR][1000 genomes]
rs72667203	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667204	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667206	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667212	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667217	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667221	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72667222	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667223	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667224	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72667225	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72667226	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72667231	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667244	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72667258	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72667261	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72686930	0.82[EUR][1000 genomes]
rs72686931	0.80[EUR][1000 genomes]
rs72686932	0.82[EUR][1000 genomes]
rs72686935	0.82[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv465752	chr8:103953990-103979714	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv611823	chr8:103953990-103979714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103940200-103972600	Weak transcription	Ovary	ovary
2	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
3	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
4	chr8:103947600-103963400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:103950400-103961000	Weak transcription	Pancreas	Pancrea
6	chr8:103952600-103973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:103952800-103971000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:103953000-103967200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:103953000-103968800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:103953200-103972800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:103953200-103974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:103953600-103973400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:103954000-103962400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:103955000-103961000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:103959000-103973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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