Variant report

Variant	nsv963483
Chromosome Location	chr3:82918818-82939287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534876816	chr3:82921235-82921236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143923598	chr3:82921329-82921330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548613204	chr3:82921347-82921348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564108897	chr3:82921366-82921367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139867518	chr3:82921381-82921382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557389842	chr3:82921382-82921383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143319629	chr3:82921498-82921499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568418354	chr3:82921529-82921530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186660265	chr3:82921566-82921567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528993047	chr3:82921584-82921585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112975383	chr3:82921590-82921591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377003488	chr3:82921600-82921601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146180567	chr3:82921602-82921603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561690177	chr3:82921613-82921614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369705134	chr3:82921625-82921626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191456089	chr3:82921643-82921644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139130540	chr3:82921726-82921727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76832182	chr3:82921776-82921777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532730540	chr3:82921778-82921779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142666974	chr3:82921779-82921780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570682312	chr3:82921787-82921788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539674188	chr3:82921806-82921807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71328426	chr3:82921826-82921827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576332662	chr3:82921833-82921834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546709648	chr3:82921886-82921887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369763743	chr3:82921888-82921889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528715947	chr3:82921890-82921891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548484584	chr3:82921902-82921903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568815683	chr3:82921931-82921932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537744003	chr3:82921950-82921951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535060726	chr3:82921971-82921972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551254894	chr3:82921978-82921979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570881407	chr3:82922005-82922006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539429330	chr3:82922010-82922011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140811232	chr3:82922011-82922012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149721551	chr3:82922012-82922013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76606396	chr3:82922024-82922025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183570552	chr3:82922045-82922046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572009093	chr3:82922082-82922083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116889785	chr3:82922097-82922098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376008576	chr3:82922108-82922109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577592607	chr3:82922114-82922115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540746328	chr3:82922131-82922132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147680628	chr3:82922142-82922143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13325164	chr3:82922156-82922157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528975525	chr3:82922166-82922167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142428512	chr3:82922175-82922176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187522788	chr3:82922183-82922184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533803326	chr3:82931729-82931730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185598056	chr3:82931786-82931787	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82921200-82921600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:82921200-82921600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:82921200-82922200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:82931600-82932800	Enhancers	Dnd41	blood

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