Variant report

Variant	nsv980704
Chromosome Location	chr5:98917730-98921496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374192048	chr5:98917746-98917747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191929025	chr5:98917777-98917778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536797402	chr5:98917778-98917779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555120778	chr5:98917815-98917816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573533313	chr5:98917833-98917834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540891536	chr5:98917856-98917857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552869782	chr5:98917917-98917918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563217912	chr5:98917922-98917923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62376167	chr5:98917950-98917951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200758001	chr5:98917971-98917972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373485954	chr5:98917972-98917973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570626529	chr5:98917978-98917979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564542134	chr5:98918065-98918066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531706292	chr5:98918090-98918091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543971083	chr5:98918179-98918180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184116144	chr5:98918186-98918187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529535367	chr5:98918205-98918206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548064975	chr5:98918210-98918211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1784096	chr5:98918213-98918214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17167068	chr5:98918219-98918220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188509062	chr5:98918260-98918261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551087672	chr5:98918312-98918313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374102695	chr5:98918322-98918323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181603560	chr5:98918352-98918353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536732034	chr5:98918429-98918430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186643445	chr5:98918444-98918445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138052592	chr5:98918452-98918453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190708209	chr5:98918453-98918454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182045758	chr5:98918486-98918487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577847966	chr5:98918488-98918489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571521860	chr5:98918490-98918491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186209462	chr5:98918499-98918500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2947031	chr5:98918503-98918504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576524326	chr5:98918564-98918565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111493046	chr5:98918578-98918579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189701597	chr5:98918600-98918601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376149836	chr5:98918647-98918648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182681485	chr5:98918671-98918672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574246322	chr5:98918709-98918710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57123873	chr5:98918710-98918711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541636300	chr5:98918744-98918745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115101252	chr5:98918749-98918750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116085385	chr5:98918755-98918756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397835137	chr5:98918775-98918776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3016335	chr5:98918794-98918795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185513635	chr5:98918797-98918798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530445881	chr5:98918820-98918821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548620333	chr5:98918875-98918876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61681879	chr5:98918918-98918919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534451115	chr5:98918942-98918943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98915200-98930800	Weak transcription	Fetal Heart	heart
2	chr5:98916400-98917800	Enhancers	HUVEC	blood vessel
3	chr5:98917800-98919000	Weak transcription	HUVEC	blood vessel
4	chr5:98919000-98919600	Enhancers	HUVEC	blood vessel

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