Variant report

Variant	nsv979852
Chromosome Location	chr3:80265555-80270438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375279649	chr3:80265574-80265575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573798312	chr3:80265597-80265598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73852661	chr3:80265634-80265635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562467462	chr3:80265636-80265637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140859539	chr3:80265646-80265647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192708601	chr3:80265647-80265648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148480979	chr3:80265698-80265699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184788252	chr3:80265699-80265700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527907160	chr3:80265710-80265711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188355252	chr3:80265787-80265788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556736922	chr3:80265793-80265794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567485828	chr3:80265804-80265805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530137481	chr3:80265813-80265814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549823090	chr3:80265851-80265852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142294321	chr3:80265869-80265870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539021970	chr3:80265886-80265887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557797351	chr3:80265895-80265896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151243362	chr3:80265913-80265914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9861664	chr3:80265933-80265934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377731273	chr3:80265967-80265968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552965224	chr3:80265972-80265973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140006362	chr3:80265973-80265974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573830945	chr3:80266000-80266001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141411691	chr3:80266010-80266011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572777250	chr3:80266016-80266017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536360456	chr3:80266028-80266029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369671552	chr3:80266097-80266098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544947099	chr3:80266099-80266100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556281886	chr3:80266128-80266129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576152496	chr3:80266146-80266147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564727417	chr3:80266155-80266156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565474887	chr3:80266159-80266160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572713151	chr3:80266204-80266205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17749340	chr3:80266208-80266209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561155699	chr3:80266215-80266216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150973991	chr3:80266232-80266233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530223465	chr3:80266233-80266234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544004447	chr3:80266252-80266253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549910885	chr3:80266264-80266265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563421980	chr3:80266265-80266266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532436954	chr3:80266338-80266339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552559618	chr3:80266340-80266341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376512096	chr3:80266364-80266365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563300415	chr3:80266391-80266392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145418541	chr3:80266393-80266394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116057014	chr3:80266402-80266403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563602865	chr3:80266407-80266408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114879045	chr3:80266467-80266468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561606653	chr3:80266480-80266481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562028586	chr3:80266494-80266495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80257600-80267600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:80268000-80268600	Enhancers	HUVEC	blood vessel

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