Variant report

Variant	nsv964057
Chromosome Location	chr4:69897479-69899015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536808646	chr4:69897531-69897532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116191801	chr4:69897596-69897597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577187074	chr4:69897613-69897614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545858093	chr4:69897620-69897621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535269296	chr4:69897629-69897630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201483286	chr4:69897634-69897635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553003658	chr4:69897648-69897649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572832082	chr4:69897650-69897651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541921127	chr4:69897680-69897681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561594600	chr4:69897685-69897686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369274697	chr4:69897727-69897728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372747591	chr4:69897737-69897738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543633110	chr4:69897757-69897758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4326076	chr4:69897813-69897814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75449910	chr4:69897885-69897886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143788907	chr4:69897893-69897894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559324276	chr4:69897918-69897919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528428686	chr4:69897960-69897961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548675958	chr4:69897983-69897984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11722972	chr4:69897984-69897985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146457513	chr4:69897986-69897987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57151765	chr4:69898083-69898084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570808525	chr4:69898120-69898121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539749843	chr4:69898123-69898124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553267118	chr4:69898203-69898204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139842735	chr4:69898223-69898224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143191219	chr4:69898264-69898265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529950103	chr4:69898275-69898276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188874021	chr4:69898304-69898305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80022606	chr4:69898349-69898350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563535958	chr4:69898388-69898389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114016987	chr4:69898389-69898390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535059216	chr4:69898421-69898422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74800063	chr4:69898492-69898493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528505361	chr4:69898585-69898586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75363444	chr4:69898594-69898595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192219683	chr4:69898606-69898607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184416296	chr4:69898609-69898610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551007911	chr4:69898632-69898633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189195917	chr4:69898654-69898655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370724713	chr4:69898714-69898715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539612382	chr4:69898715-69898716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145443625	chr4:69898779-69898780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377000256	chr4:69898782-69898783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540872813	chr4:69898799-69898800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148817539	chr4:69898801-69898802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80118605	chr4:69898828-69898829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375084450	chr4:69898833-69898834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182437467	chr4:69898836-69898837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185779376	chr4:69898846-69898847	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69891200-69898400	Weak transcription	Liver	Liver
2	chr4:69892000-69898800	Weak transcription	A549	lung
3	chr4:69898400-69899200	Enhancers	Liver	Liver
4	chr4:69898800-69899600	Enhancers	A549	lung

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