Variant report

Variant	nsv964914
Chromosome Location	chr5:99349660-99352102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191784014	chr5:99351046-99351047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76446326	chr5:99351094-99351095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116196555	chr5:99351101-99351102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554970610	chr5:99351131-99351132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151266459	chr5:99351135-99351136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184073218	chr5:99351145-99351146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543338096	chr5:99351146-99351147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370644811	chr5:99351173-99351174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187894262	chr5:99351234-99351235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558823570	chr5:99351247-99351248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192370436	chr5:99351270-99351271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544430735	chr5:99351314-99351315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184113608	chr5:99351324-99351325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574806899	chr5:99351335-99351336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368522654	chr5:99351342-99351343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187285991	chr5:99351347-99351348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140491025	chr5:99351503-99351504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552149692	chr5:99351506-99351507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533161943	chr5:99351513-99351514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531419043	chr5:99351550-99351551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11948786	chr5:99351584-99351585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs75565633	chr5:99351595-99351596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73774516	chr5:99351625-99351626	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72769531	chr5:99351666-99351667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565953610	chr5:99351721-99351722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533984285	chr5:99351753-99351754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542392547	chr5:99351759-99351760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9654525	chr5:99351839-99351840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114062639	chr5:99351856-99351857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78304763	chr5:99351968-99351969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556358827	chr5:99352054-99352055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574643875	chr5:99352078-99352079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99351000-99353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:99351200-99351400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:99351400-99353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:99351600-99352600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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