Variant report

Variant	esv1015795
Chromosome Location	chr10:4304118-4304129
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	chr10:4301639..4303870-chr10:4304089..4305971,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11252416	chr10:4304121-4304122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528315525	chr10:4304122-4304123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11252417	chr10:4304124-4304125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11252418	chr10:4304125-4304126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369479942	chr10:4304126-4304127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200899841	chr10:4304127-4304128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11410078	chr10:4304129-4304130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21509527	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4296800-4308800	Weak transcription	Psoas Muscle	Psoas
2	chr10:4298200-4305800	Weak transcription	Aorta	Aorta
3	chr10:4300600-4306000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:4301600-4305800	Weak transcription	Spleen	Spleen
5	chr10:4301600-4316000	Weak transcription	Gastric	stomach
6	chr10:4302200-4306800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:4302400-4305800	Weak transcription	Lung	lung
8	chr10:4302600-4305600	Weak transcription	Ovary	ovary
9	chr10:4302800-4304800	Weak transcription	Right Atrium	heart
10	chr10:4302800-4305800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:4302800-4305800	Weak transcription	Right Ventricle	heart
12	chr10:4303000-4304600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:4303000-4305400	Weak transcription	A549	lung
14	chr10:4303000-4305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:4303200-4304800	Weak transcription	NHDF-Ad	bronchial
16	chr10:4303200-4305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:4303200-4305400	Weak transcription	NHLF	lung
18	chr10:4303200-4305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:4303200-4305600	Weak transcription	Small Intestine	intestine
20	chr10:4303200-4305800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:4303200-4305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:4303200-4305800	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:4303200-4305800	Weak transcription	Fetal Stomach	stomach
24	chr10:4303200-4305800	Weak transcription	Left Ventricle	heart
25	chr10:4303200-4305800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr10:4303200-4308800	Weak transcription	Fetal Brain Male	brain
27	chr10:4303200-4308800	Weak transcription	HMEC	breast
28	chr10:4303200-4309000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:4303200-4312200	Weak transcription	HUVEC	blood vessel
30	chr10:4303400-4308000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:4303400-4308800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:4303400-4308800	Weak transcription	Fetal Heart	heart
33	chr10:4303400-4312200	Weak transcription	NHEK	skin
34	chr10:4303600-4304800	Weak transcription	Hela-S3	cervix
35	chr10:4303800-4304800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:4303800-4305800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:4304000-4304800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:4304000-4309000	Weak transcription	Colon Smooth Muscle	Colon

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