Variant report

Variant	esv3502425
Chromosome Location	chr10:110916212-110919810
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	chr10:110909632..110912318-chr10:110918760..110920466,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530481005	chr10:110916215-110916216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550272545	chr10:110916252-110916253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187993722	chr10:110916271-110916272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535676563	chr10:110916303-110916304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113861988	chr10:110916327-110916328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11194430	chr10:110916329-110916330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61883172	chr10:110916384-110916385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185562344	chr10:110916389-110916390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577960538	chr10:110916422-110916423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537400711	chr10:110916485-110916486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557504263	chr10:110916530-110916531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574160810	chr10:110916554-110916555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199564969	chr10:110916555-110916556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542878329	chr10:110916561-110916562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111526185	chr10:110916562-110916563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79899666	chr10:110916565-110916566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370681781	chr10:110916602-110916603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111772453	chr10:110916656-110916657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550617174	chr10:110916661-110916662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139470907	chr10:110916663-110916664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74781690	chr10:110916691-110916692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530440694	chr10:110916696-110916697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550135166	chr10:110916831-110916832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111598318	chr10:110916866-110916867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146702455	chr10:110916871-110916872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549203742	chr10:110916923-110916924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551747310	chr10:110916944-110916945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566765047	chr10:110916986-110916987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566135486	chr10:110916989-110916990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376980208	chr10:110917015-110917016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535173732	chr10:110917021-110917022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12261991	chr10:110917031-110917032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571874445	chr10:110917041-110917042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537462317	chr10:110917104-110917105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557377930	chr10:110917135-110917136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574227796	chr10:110917139-110917140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79588742	chr10:110917142-110917143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139193187	chr10:110917183-110917184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555252244	chr10:110917184-110917185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572964962	chr10:110917223-110917224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12247333	chr10:110917257-110917258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146489303	chr10:110917267-110917268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561116878	chr10:110917342-110917343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537966905	chr10:110917346-110917347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111816161	chr10:110917347-110917348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543838256	chr10:110917377-110917378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61883173	chr10:110917400-110917401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576187183	chr10:110919410-110919411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542961568	chr10:110919430-110919431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187219699	chr10:110919453-110919454	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
renal hypoplasia	20603712	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:110916000-110916400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:110916400-110917400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr10:110916600-110917000	Enhancers	Fetal Kidney	kidney
4	chr10:110916600-110917200	Enhancers	Placenta	Placenta
5	chr10:110919400-110919600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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