Variant report

Variant	nsv516390
Chromosome Location	chr3:84853779-84873993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11713152	chr3:84853779-84853780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544242980	chr3:84853784-84853785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372068403	chr3:84853885-84853886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562619841	chr3:84853888-84853889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185102197	chr3:84853892-84853893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35869803	chr3:84853914-84853915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548518590	chr3:84853918-84853919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73845112	chr3:84853944-84853945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527485470	chr3:84854017-84854018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552348921	chr3:84854055-84854056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570962764	chr3:84854081-84854082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548238020	chr3:84854082-84854083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79385973	chr3:84854121-84854122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73845113	chr3:84854123-84854124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568397400	chr3:84854186-84854187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573700171	chr3:84854201-84854202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190691037	chr3:84854202-84854203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554049094	chr3:84854221-84854222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572267874	chr3:84854239-84854240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540068193	chr3:84854289-84854290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558367452	chr3:84854317-84854318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576900329	chr3:84854329-84854330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542309023	chr3:84854379-84854380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543849653	chr3:84854398-84854399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562435046	chr3:84854500-84854501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561951919	chr3:84854512-84854513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181980200	chr3:84854518-84854519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150413262	chr3:84854519-84854520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59997495	chr3:84854561-84854562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560467808	chr3:84854563-84854564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564499857	chr3:84854574-84854575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397732011	chr3:84854575-84854576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185082096	chr3:84854587-84854588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552391714	chr3:84854591-84854592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564400861	chr3:84854666-84854667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369399851	chr3:84854682-84854683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67605484	chr3:84854705-84854706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375582237	chr3:84854708-84854709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189565997	chr3:84854747-84854748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201813402	chr3:84854773-84854774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145405816	chr3:84854776-84854777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67044921	chr3:84854849-84854850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180816832	chr3:84854881-84854882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566079962	chr3:84854882-84854883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185665050	chr3:84854898-84854899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190028442	chr3:84854925-84854926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576578386	chr3:84854959-84854960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145101522	chr3:84854980-84854981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533204893	chr3:84854985-84854986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9870115	chr3:84854986-84854987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84845200-84856400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:84856400-84856600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:84856600-84856800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:84864600-84865000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr3:84864600-84865000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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