Variant report

Variant	esv2132531
Chromosome Location	chr10:824190-824587
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	chr10:778218..778962-chr10:824579..825446,5	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554837679	chr10:824190-824191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528563905	chr10:824202-824203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113001453	chr10:824211-824212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5027683	chr10:824256-824257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533095113	chr10:824282-824283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549616005	chr10:824292-824293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569522599	chr10:824295-824296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181858237	chr10:824309-824310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548746717	chr10:824312-824313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564924588	chr10:824325-824326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2892158	chr10:824342-824343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2386866	chr10:824356-824357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113142140	chr10:824366-824367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112704652	chr10:824369-824370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186875092	chr10:824416-824417	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143537364	chr10:824430-824431	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576729977	chr10:824437-824438	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372241901	chr10:824438-824439	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112358966	chr10:824440-824441	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113174952	chr10:824443-824444	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543269812	chr10:824475-824476	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553587732	chr10:824491-824492	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146031919	chr10:824494-824495	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545453173	chr10:824500-824501	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565135461	chr10:824503-824504	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79604393	chr10:824505-824506	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375173582	chr10:824563-824564	Enhancers Weak transcription Genic enhancers	n/a	n/a	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:818400-830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:821800-824600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:822000-825000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:822000-825000	Weak transcription	NH-A	brain
5	chr10:822000-825400	Weak transcription	Osteobl	bone
6	chr10:822000-830400	Weak transcription	Esophagus	oesophagus
7	chr10:822800-825400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:823200-824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:824000-825200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:824400-825200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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