Variant report

Variant	esv2458647
Chromosome Location	chr10:5286350-5293732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:
2	chr10:5285721..5288092-chr10:5296102..5298963,2	K562	blood:
3	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192438168	chr10:5286351-5286352	Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112392612	chr10:5286395-5286396	Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561633752	chr10:5286472-5286473	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183787202	chr10:5286489-5286490	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148524008	chr10:5286494-5286495	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34521172	chr10:5286496-5286497	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550485535	chr10:5286498-5286499	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568715290	chr10:5286502-5286503	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551191715	chr10:5286514-5286515	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34212531	chr10:5286515-5286516	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541521138	chr10:5286520-5286521	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569510147	chr10:5286532-5286533	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188133343	chr10:5286533-5286534	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147660438	chr10:5286549-5286550	Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7895816	chr10:5286600-5286601	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370272296	chr10:5286635-5286636	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574299302	chr10:5286637-5286638	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142351337	chr10:5286649-5286650	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144652656	chr10:5286650-5286651	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577917357	chr10:5286685-5286686	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181411863	chr10:5286733-5286734	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545432989	chr10:5286749-5286750	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560362510	chr10:5286802-5286803	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572241058	chr10:5286806-5286807	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558710216	chr10:5286819-5286820	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368526210	chr10:5286824-5286825	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542731531	chr10:5286831-5286832	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7908061	chr10:5286855-5286856	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529058866	chr10:5286898-5286899	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550421706	chr10:5286901-5286902	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562840298	chr10:5286902-5286903	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532785778	chr10:5286950-5286951	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551382608	chr10:5286973-5286974	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151320589	chr10:5287011-5287012	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570545886	chr10:5287012-5287013	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184656401	chr10:5287013-5287014	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549119768	chr10:5287018-5287019	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375606545	chr10:5287025-5287026	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140649468	chr10:5287039-5287040	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190370075	chr10:5287050-5287051	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556577920	chr10:5287063-5287064	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7911385	chr10:5287088-5287089	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561910458	chr10:5287092-5287093	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554102668	chr10:5287103-5287104	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9423570	chr10:5287110-5287111	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542668143	chr10:5287145-5287146	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375995438	chr10:5287153-5287154	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11595920	chr10:5287177-5287178	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9423396	chr10:5287192-5287193	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7896353	chr10:5287193-5287194	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5284200-5287200	Enhancers	HepG2	liver
2	chr10:5285800-5286400	Flanking Active TSS	Liver	Liver
3	chr10:5286200-5286600	Strong transcription	A549	lung
4	chr10:5286200-5287000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr10:5286400-5287200	Active TSS	Liver	Liver
6	chr10:5286600-5293800	Weak transcription	A549	lung
7	chr10:5287000-5287200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:5287000-5287400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr10:5287200-5287400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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