Variant report

Variant	rs548589407
Chromosome Location	chr8:120219898-120219899
allele	A/T
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	NR2F2	chr8:120219815-120220778	MCF-7	breast:	n/a	n/a
2	MAX	chr8:120219811-120222334	HCT-116	colon:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
3	MYC	chr8:120219061-120219962	MCF10A-Er-Src	breast:	n/a	n/a
4	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
5	POLR2A	chr8:120219852-120222242	HCT-116	colon:	n/a	n/a
6	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
7	E2F6	chr8:120219850-120222354	H1-hESC	embryonic stem cell:	n/a	chr8:120221998-120222007 chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
8	MYC	chr8:120219267-120220003	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr8:120219813-120221721	HCT-116	colon:	n/a	chr8:120220122-120220136 chr8:120221307-120221317 chr8:120220124-120220134 chr8:120220124-120220134 chr8:120221304-120221317 chr8:120221553-120221562 chr8:120220118-120220140 chr8:120220935-120220945
10	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
11	MAX	chr8:120219795-120222312	HCT-116	colon:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
12	HA-E2F1	chr8:120219870-120222214	MCF-7	breast:	n/a	chr8:120221998-120222007 chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
13	GATA3	chr8:120219001-120220649	MCF-7	breast:	n/a	chr8:120220110-120220117
14	ZKSCAN1	chr8:120219282-120220624	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr8:120219880-120220577	Hela-S3	cervix:	n/a	chr8:120220111-120220120
16	USF1	chr8:120219850-120222199	HCT-116	colon:	n/a	chr8:120220095-120220111
17	POLR2A	chr8:120218818-120224415	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:120219146-120222127	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr8:120219892-120221820	ECC-1	luminal epithelium:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
20	MAX	chr8:120219824-120222382	MCF-7	breast:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
21	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
22	MAFK	chr8:120219281-120219974	Hela-S3	cervix:	n/a	n/a
23	HDAC2	chr8:120219812-120222090	MCF-7	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
ENSG00000201524	Chromatin interaction
ENSG00000212195	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:40 , 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	chr8:120216200-120220000	Weak transcription	Liver	Liver
3	chr8:120216400-120220000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:120217200-120220000	Weak transcription	Adipose Nuclei	Adipose
5	chr8:120218800-120220000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr8:120219000-120220000	Weak transcription	Esophagus	oesophagus
9	chr8:120219000-120220000	Bivalent Enhancer	HepG2	liver
10	chr8:120219000-120220200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:120219000-120220400	Flanking Active TSS	NHEK	skin
12	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:120219200-120220800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:120219400-120220000	Bivalent Enhancer	Primary T cells from cord blood	blood
15	chr8:120219400-120220000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:120219400-120220000	Active TSS	Stomach Mucosa	stomach
17	chr8:120219400-120220400	Flanking Active TSS	Hela-S3	cervix
18	chr8:120219600-120220200	Flanking Active TSS	HMEC	breast
19	chr8:120219600-120220400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:120219800-120220000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr8:120219800-120220000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:120219800-120220000	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr8:120219800-120220000	Bivalent Enhancer	Fetal Kidney	kidney
25	chr8:120219800-120220000	Bivalent Enhancer	Placenta	Placenta
26	chr8:120219800-120220000	Enhancers	Pancreas	Pancrea
27	chr8:120219800-120220000	Bivalent Enhancer	GM12878-XiMat	blood
28	chr8:120219800-120220200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr8:120219800-120220200	Bivalent Enhancer	Fetal Heart	heart
30	chr8:120219800-120220200	Bivalent Enhancer	Small Intestine	intestine
31	chr8:120219800-120220400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr8:120219800-120220400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:120219800-120220400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:120219800-120220400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
35	chr8:120219800-120220400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:120219800-120221400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:120219800-120221400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:120219800-120221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:120219800-120222000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr8:120219800-120222200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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