Variant report

Variant	nsv10475
Chromosome Location	chr4:30285802-30292192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181907026	chr4:30285812-30285813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559912818	chr4:30285860-30285861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554182695	chr4:30285877-30285878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541144403	chr4:30285984-30285985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552231535	chr4:30285994-30285995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77263839	chr4:30286007-30286008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186571914	chr4:30286014-30286015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2117460	chr4:30286015-30286016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547829435	chr4:30286038-30286039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567971342	chr4:30286076-30286077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2164180	chr4:30286160-30286161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144878538	chr4:30286175-30286176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142899554	chr4:30286188-30286189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16883217	chr4:30286200-30286201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76690396	chr4:30286283-30286284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559026730	chr4:30286313-30286314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10027639	chr4:30286341-30286342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs16883220	chr4:30286350-30286351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs16883221	chr4:30286367-30286368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373865937	chr4:30286371-30286372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146240033	chr4:30286385-30286386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540111728	chr4:30286397-30286398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559947597	chr4:30286479-30286480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576640532	chr4:30286495-30286496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16883224	chr4:30286526-30286527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190631180	chr4:30286569-30286570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58375530	chr4:30286570-30286571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28608614	chr4:30286579-30286580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548212294	chr4:30286588-30286589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16883227	chr4:30286607-30286608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182873616	chr4:30286627-30286628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547299317	chr4:30286675-30286676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567136076	chr4:30286723-30286724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539244527	chr4:30286730-30286731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552453703	chr4:30286754-30286755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569373500	chr4:30286763-30286764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537948716	chr4:30286818-30286819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112483050	chr4:30286855-30286856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186247190	chr4:30286891-30286892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554572167	chr4:30286927-30286928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568095839	chr4:30286955-30286956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16883230	chr4:30287008-30287009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553669652	chr4:30287015-30287016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553332528	chr4:30287017-30287018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57061834	chr4:30287043-30287044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148035870	chr4:30287070-30287071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57819094	chr4:30287109-30287110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141760883	chr4:30287115-30287116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191488053	chr4:30287146-30287147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183145399	chr4:30287160-30287161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Multiple myeloma	17550852	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30284400-30291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:30284600-30287800	Weak transcription	Fetal Brain Male	brain
3	chr4:30287800-30288000	Enhancers	Fetal Brain Male	brain
4	chr4:30291000-30291800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:30291800-30292200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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