Variant report

Variant	esv1698001
Chromosome Location	chr10:22220985-22220986
allele	n/a
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	FOS	chr10:22220840-22221321	MCF10A-Er-Src	breast:	n/a	n/a
2	SETDB1	chr10:22220824-22221345	U2OS	brain:	n/a	n/a
3	STAT3	chr10:22220861-22221279	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr10:22220795-22221302	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr10:22220704-22221050	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RN7SKP37	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71510913	chr10:22220986-22220987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22179000-22224000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr10:22183400-22221000	Weak transcription	Left Ventricle	heart
3	chr10:22185000-22222000	Weak transcription	Right Ventricle	heart
4	chr10:22188800-22229200	Weak transcription	Aorta	Aorta
5	chr10:22193000-22224200	Weak transcription	Primary B cells from cord blood	blood
6	chr10:22196200-22223400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:22199600-22250800	Weak transcription	Pancreas	Pancrea
8	chr10:22203000-22221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:22215200-22221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:22215600-22228600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:22216800-22221200	Weak transcription	Hela-S3	cervix
12	chr10:22217000-22221800	Weak transcription	NHLF	lung
13	chr10:22217200-22222200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:22217200-22224800	Weak transcription	Placenta	Placenta
15	chr10:22217600-22221000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:22218000-22222400	Enhancers	K562	blood
17	chr10:22218200-22222600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:22218400-22222200	Weak transcription	Stomach Mucosa	stomach
19	chr10:22218400-22223400	Weak transcription	HMEC	breast
20	chr10:22218600-22223400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:22219000-22221600	Enhancers	Fetal Heart	heart
22	chr10:22219200-22222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:22219200-22223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:22219200-22225000	Weak transcription	Gastric	stomach

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