Variant report

Variant	esv1192745
Chromosome Location	chr10:836281-836325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:739318..742202-chr10:834057..836421,2	MCF-7	breast:
2	chr10:829650..833485-chr10:834016..837949,4	MCF-7	breast:
3	chr10:835663..837203-chr10:849697..852402,2	MCF-7	breast:
4	chr10:733781..736812-chr10:835046..837380,3	MCF-7	breast:
5	chr10:734067..736710-chr10:835595..837174,2	MCF-7	breast:
6	chr10:835224..837627-chr10:1092339..1094785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067064	chromatin interactions
ENSG00000151240	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186726285	chr10:836305-836306	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71376868	chr10:836325-836326	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831400-850000	Weak transcription	Fetal Heart	heart
2	chr10:832800-836600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr10:835000-841800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr10:835400-838800	Weak transcription	NHDF-Ad	bronchial
5	chr10:835400-843000	Weak transcription	Aorta	Aorta
6	chr10:835600-836400	Enhancers	Fetal Intestine Small	intestine
7	chr10:835600-836600	Enhancers	Stomach Mucosa	stomach
8	chr10:835600-837400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:835600-837600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:835600-837600	Weak transcription	Fetal Kidney	kidney
11	chr10:835600-838800	Weak transcription	NH-A	brain
12	chr10:835600-841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:835600-841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:835600-842800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:835600-853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:835800-836600	Enhancers	Fetal Intestine Large	intestine
17	chr10:835800-837600	Weak transcription	Fetal Brain Male	brain
18	chr10:835800-838000	Weak transcription	HSMMtube	muscle
19	chr10:835800-838200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:835800-838800	Weak transcription	NHLF	lung
21	chr10:835800-839600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:835800-852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:836000-836400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:836000-836400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:836000-836400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:836000-836400	Enhancers	HepG2	liver
27	chr10:836000-839200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:836000-840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:836000-841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:836000-842000	Weak transcription	A549	lung
31	chr10:836000-849000	Weak transcription	Right Ventricle	heart
32	chr10:836000-849400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:836000-852000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:836000-852800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:836200-836400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:836200-836400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:836200-836400	Enhancers	Duodenum Mucosa	Duodenum
38	chr10:836200-836400	Enhancers	Gastric	stomach
39	chr10:836200-837000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:836200-837200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr10:836200-837600	Weak transcription	Pancreas	Pancrea
42	chr10:836200-838000	Weak transcription	Esophagus	oesophagus
43	chr10:836200-838200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:836200-838200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:836200-838200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:836200-838200	Weak transcription	HSMM	muscle
47	chr10:836200-840600	Weak transcription	Spleen	Spleen
48	chr10:836200-842800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:836200-850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:836200-852000	Weak transcription	Ovary	ovary

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