Variant report

Variant	nsv594233
Chromosome Location	chr4:60290710-60294124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551071282	chr4:60290741-60290742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142680581	chr4:60290774-60290775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568282059	chr4:60290776-60290777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535711937	chr4:60290786-60290787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190291613	chr4:60290807-60290808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575264171	chr4:60290816-60290817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539415963	chr4:60290817-60290818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557509098	chr4:60290818-60290819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572880018	chr4:60290828-60290829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140106556	chr4:60290829-60290830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529930225	chr4:60290836-60290837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370739379	chr4:60290841-60290842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561920059	chr4:60290863-60290864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28833041	chr4:60290884-60290885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374287189	chr4:60290893-60290894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189834878	chr4:60290895-60290896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141054021	chr4:60290901-60290902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368712183	chr4:60290944-60290945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193186843	chr4:60290947-60290948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562848138	chr4:60290948-60290949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533505342	chr4:60290955-60290956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551733793	chr4:60290983-60290984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185122288	chr4:60290993-60290994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566471837	chr4:60291021-60291022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533844765	chr4:60291048-60291049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190018782	chr4:60291065-60291066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112069776	chr4:60291078-60291079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558083119	chr4:60291080-60291081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550841386	chr4:60291086-60291087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569164418	chr4:60291107-60291108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570448342	chr4:60291139-60291140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539386435	chr4:60291152-60291153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557715333	chr4:60291180-60291181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144788611	chr4:60291190-60291191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7674272	chr4:60291205-60291206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181288397	chr4:60291215-60291216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201251901	chr4:60291223-60291224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142880493	chr4:60291233-60291234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536090962	chr4:60291245-60291246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556257560	chr4:60291258-60291259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544401087	chr4:60291259-60291260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575725287	chr4:60291314-60291315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556370898	chr4:60291338-60291339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373128015	chr4:60291348-60291349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114703489	chr4:60291354-60291355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115361904	chr4:60291359-60291360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560501714	chr4:60291377-60291378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527693806	chr4:60291404-60291405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185542980	chr4:60291418-60291419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561364499	chr4:60291420-60291421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60286200-60293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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