Variant report

Variant	rs147484243
Chromosome Location	chr8:120219704-120219705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:120219061-120219962	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr8:120218933-120220478	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244
3	POLR2A	chr8:120219217-120219749	HCT-116	colon:	n/a	n/a
4	EP300	chr8:120219140-120219733	Hela-S3	cervix:	n/a	chr8:120219237-120219251
5	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
6	MYC	chr8:120219267-120220003	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:120218994-120220201	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375
8	FOS	chr8:120218991-120219725	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120219365-120219375 chr8:120219365-120219375
9	BRCA1	chr8:120218985-120219728	Hela-S3	cervix:	n/a	n/a
10	GATA3	chr8:120219001-120220649	MCF-7	breast:	n/a	chr8:120220110-120220117
11	ZKSCAN1	chr8:120219282-120220624	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr8:120219327-120219789	MCF-7	breast:	n/a	n/a
13	POLR2A	chr8:120218818-120224415	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:120219146-120222127	MCF10A-Er-Src	breast:	n/a	n/a
15	FOSL1	chr8:120218876-120220707	HCT-116	colon:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244
16	MAFK	chr8:120219281-120219974	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr8:120219051-120219727	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:
2	chr17:57923593..57925811-chr8:120219201..120221264,2	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3394135	chr8:120219596-120222144	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120215200-120220000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:120215400-120219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:120216200-120220000	Weak transcription	Liver	Liver
4	chr8:120216400-120220000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:120217200-120220000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:120218800-120220000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr8:120219000-120219800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:120219000-120220000	Weak transcription	Esophagus	oesophagus
11	chr8:120219000-120220000	Bivalent Enhancer	HepG2	liver
12	chr8:120219000-120220200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:120219000-120220400	Flanking Active TSS	NHEK	skin
14	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:120219200-120220800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:120219400-120219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:120219400-120219800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
18	chr8:120219400-120220000	Bivalent Enhancer	Primary T cells from cord blood	blood
19	chr8:120219400-120220000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:120219400-120220000	Active TSS	Stomach Mucosa	stomach
21	chr8:120219400-120220400	Flanking Active TSS	Hela-S3	cervix
22	chr8:120219600-120219800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:120219600-120219800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
24	chr8:120219600-120220200	Flanking Active TSS	HMEC	breast
25	chr8:120219600-120220400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet

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