Variant report

Variant	nsv975143
Chromosome Location	chr11:4743607-4745097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188851120	chr11:4743649-4743650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547660312	chr11:4743663-4743664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559437719	chr11:4743676-4743677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371185560	chr11:4743699-4743700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560253933	chr11:4743701-4743702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77050333	chr11:4743720-4743721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398015235	chr11:4743722-4743723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140268241	chr11:4743738-4743739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74052059	chr11:4743752-4743753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373387254	chr11:4743756-4743757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530007184	chr11:4743762-4743763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548042819	chr11:4743804-4743805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569849458	chr11:4743829-4743830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538318174	chr11:4743834-4743835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550330151	chr11:4743860-4743861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571655893	chr11:4743862-4743863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539079070	chr11:4743865-4743866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557549394	chr11:4743868-4743869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566200829	chr11:4743928-4743929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7941234	chr11:4743948-4743949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145392786	chr11:4743986-4743987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141324764	chr11:4744038-4744039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180682041	chr11:4744054-4744055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569435537	chr11:4744066-4744067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543099401	chr11:4744097-4744098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558272848	chr11:4744098-4744099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576427069	chr11:4744151-4744152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540626156	chr11:4744152-4744153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34438514	chr11:4744156-4744157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146942123	chr11:4744179-4744180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542131548	chr11:4744191-4744192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563456427	chr11:4744214-4744215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368686622	chr11:4744217-4744218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558463551	chr11:4744221-4744222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550293101	chr11:4744224-4744225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113151320	chr11:4744251-4744252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554109361	chr11:4744292-4744293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532648403	chr11:4744314-4744315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547439806	chr11:4744317-4744318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376579504	chr11:4744337-4744338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536521893	chr11:4744343-4744344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555279002	chr11:4744354-4744355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569906080	chr11:4744370-4744371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537294518	chr11:4744383-4744384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558732089	chr11:4744394-4744395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576491773	chr11:4744406-4744407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200192891	chr11:4744410-4744411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137919609	chr11:4744432-4744433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552667856	chr11:4744448-4744449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189327030	chr11:4744470-4744471	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4742000-4743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:4743800-4744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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