Variant report

Variant	nsv963597
Chromosome Location	chr4:30980639-30981704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13137108	chr4:30980639-30980640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541474980	chr4:30980649-30980650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550888268	chr4:30980686-30980687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189068585	chr4:30980711-30980712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192406662	chr4:30980714-30980715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562573818	chr4:30980730-30980731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545488530	chr4:30980747-30980748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564752817	chr4:30980792-30980793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563977783	chr4:30980798-30980799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184598261	chr4:30980824-30980825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540397120	chr4:30980883-30980884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190700158	chr4:30980897-30980898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150893962	chr4:30980903-30980904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180719902	chr4:30980907-30980908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375022439	chr4:30980948-30980949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80258624	chr4:30980950-30980951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80272564	chr4:30980960-30980961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140135261	chr4:30980962-30980963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184492856	chr4:30980975-30980976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189565304	chr4:30980997-30980998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74363110	chr4:30980998-30980999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539658681	chr4:30981005-30981006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551890754	chr4:30981032-30981033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61792874	chr4:30981050-30981051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532544059	chr4:30981113-30981114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61792875	chr4:30981141-30981142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555892945	chr4:30981153-30981154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368640544	chr4:30981164-30981165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567872897	chr4:30981173-30981174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535582236	chr4:30981181-30981182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564822823	chr4:30981185-30981186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76283026	chr4:30981225-30981226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76271092	chr4:30981226-30981227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76399560	chr4:30981227-30981228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574880785	chr4:30981240-30981241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550657645	chr4:30981257-30981258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562655752	chr4:30981291-30981292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149559982	chr4:30981308-30981309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34145637	chr4:30981310-30981311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181413913	chr4:30981315-30981316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369935905	chr4:30981351-30981352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561876893	chr4:30981446-30981447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116664689	chr4:30981499-30981500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530104719	chr4:30981549-30981550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186040959	chr4:30981557-30981558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190756615	chr4:30981569-30981570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61792876	chr4:30981622-30981623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558100695	chr4:30981671-30981672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28655825	chr4:30981676-30981677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30964600-30992600	Weak transcription	Aorta	Aorta

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