Variant report

Variant	esv3313618
Chromosome Location	chr10:5287300-5293364
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: 87 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549058184	chr10:5287300-5287301	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186854188	chr10:5287314-5287315	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531921247	chr10:5287318-5287319	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550384354	chr10:5287319-5287320	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571763157	chr10:5287320-5287321	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539294060	chr10:5287321-5287322	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554175251	chr10:5287322-5287323	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565698830	chr10:5287338-5287339	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536289256	chr10:5287379-5287380	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373206519	chr10:5287415-5287416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554638014	chr10:5287435-5287436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61854578	chr10:5287452-5287453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375216832	chr10:5287478-5287479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61854579	chr10:5287486-5287487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369672289	chr10:5287488-5287489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576154199	chr10:5287499-5287500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544058977	chr10:5287505-5287506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371005223	chr10:5287519-5287520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556286386	chr10:5287527-5287528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577783097	chr10:5287539-5287540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11253062	chr10:5287548-5287549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11253063	chr10:5287569-5287570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560467725	chr10:5287586-5287587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575130969	chr10:5287592-5287593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527267969	chr10:5287599-5287600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545871224	chr10:5287634-5287635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542673888	chr10:5287635-5287636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560950690	chr10:5287645-5287646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564389350	chr10:5287680-5287681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199517211	chr10:5288166-5288167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531402989	chr10:5288698-5288699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200555625	chr10:5288938-5288939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373198033	chr10:5289301-5289302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201505104	chr10:5289315-5289316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377755793	chr10:5289363-5289364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9423571	chr10:5289388-5289389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61854582	chr10:5289410-5289411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371198606	chr10:5289421-5289422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375959913	chr10:5289442-5289443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61854583	chr10:5289555-5289556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7476654	chr10:5289597-5289598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368384407	chr10:5289644-5289645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370944219	chr10:5289692-5289693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7476700	chr10:5289826-5289827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7478128	chr10:5289827-5289828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367968727	chr10:5289844-5289845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371420010	chr10:5289881-5289882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374693830	chr10:5289895-5289896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367609533	chr10:5289917-5289918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372279834	chr10:5289954-5289955	Weak 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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5286600-5293800	Weak transcription	A549	lung
2	chr10:5287000-5287400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr10:5287200-5287400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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