Variant report

Variant	esv1402522
Chromosome Location	chr10:4690573-4690574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4690190..4692263-chr10:4776105..4778922,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 54 )

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	rs398012693	chr10:4690574-4690575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
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
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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:4680800-4692800	Weak transcription	Aorta	Aorta
4	chr10:4682800-4690800	Weak transcription	Psoas Muscle	Psoas
5	chr10:4682800-4693800	Weak transcription	NHEK	skin
6	chr10:4682800-4694000	Weak transcription	HMEC	breast
7	chr10:4684400-4692200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:4685800-4692600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:4688000-4692600	Weak transcription	Fetal Kidney	kidney
10	chr10:4688800-4694800	Enhancers	Dnd41	blood
11	chr10:4689200-4691600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr10:4689400-4690600	Enhancers	HUVEC	blood vessel
13	chr10:4689400-4691000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:4689400-4692400	Weak transcription	NH-A	brain
15	chr10:4689400-4692600	Weak transcription	HSMM	muscle
16	chr10:4689400-4694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:4689600-4690800	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:4689600-4692200	Weak transcription	NHDF-Ad	bronchial
19	chr10:4689800-4691000	Weak transcription	HSMMtube	muscle
20	chr10:4689800-4692200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:4689800-4692400	Weak transcription	Adipose Nuclei	Adipose
22	chr10:4690000-4692200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:4690000-4692200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:4690000-4697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:4690200-4691800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:4690200-4692200	Weak transcription	Osteobl	bone

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