Variant report

Variant	esv9874
Chromosome Location	chr10:5163668-5164362
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	chr10:5157749..5160543-chr10:5164093..5166584,2	MCF-7	breast:
2	chr10:5163399..5166048-chr10:5166871..5170286,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115562378	chr10:5163671-5163672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11252974	chr10:5163674-5163675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs587661468	chr10:5163681-5163682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181380660	chr10:5163698-5163699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115724653	chr10:5163704-5163705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186194103	chr10:5163706-5163707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12264305	chr10:5163775-5163776	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11252975	chr10:5163820-5163821	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370489210	chr10:5163839-5163840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73600029	chr10:5163855-5163856	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144691949	chr10:5163874-5163875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587615969	chr10:5163875-5163876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373824041	chr10:5163883-5163884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147904057	chr10:5163901-5163902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113778980	chr10:5163948-5163949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376698867	chr10:5163949-5163950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117935491	chr10:5163951-5163952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183421988	chr10:5163953-5163954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369754406	chr10:5163955-5163956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187861817	chr10:5163990-5163991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2895063	chr10:5164003-5164004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375454587	chr10:5164004-5164005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587733939	chr10:5164012-5164013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117499060	chr10:5164039-5164040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587666868	chr10:5164050-5164051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1937919	chr10:5164051-5164052	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190827542	chr10:5164120-5164121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587675400	chr10:5164123-5164124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1937918	chr10:5164124-5164125	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs587628352	chr10:5164163-5164164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183107046	chr10:5164171-5164172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201970545	chr10:5164176-5164177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587739368	chr10:5164189-5164190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587610100	chr10:5164250-5164251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587692227	chr10:5164255-5164256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113569376	chr10:5164265-5164266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72376226	chr10:5164266-5164267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71391997	chr10:5164268-5164269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373920677	chr10:5164269-5164270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367891338	chr10:5164271-5164272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587623722	chr10:5164274-5164275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12775468	chr10:5164276-5164277	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73600031	chr10:5164300-5164301	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs587677055	chr10:5164344-5164345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587731756	chr10:5164351-5164352	Weak transcription Strong transcription	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
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	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5151000-5178000	Weak transcription	Adipose Nuclei	Adipose
2	chr10:5163400-5165200	Strong transcription	Liver	Liver
3	chr10:5163600-5164400	Weak transcription	A549	lung

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