Variant report

Variant	nsv969969
Chromosome Location	chr5:98891339-98907195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 84 )

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	rs577606107	chr5:98898816-98898817	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148496523	chr5:98898834-98898835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556665913	chr5:98898835-98898836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544002294	chr5:98898851-98898852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142784697	chr5:98898852-98898853	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7721498	chr5:98898858-98898859	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560982862	chr5:98898876-98898877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573093667	chr5:98898887-98898888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7701159	chr5:98898901-98898902	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559691632	chr5:98898938-98898939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533207243	chr5:98898943-98898944	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551886529	chr5:98898944-98898945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563797524	chr5:98898993-98898994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113973308	chr5:98898994-98898995	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531093340	chr5:98899000-98899001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565722642	chr5:98899020-98899021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146616524	chr5:98899026-98899027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188514964	chr5:98899059-98899060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535325079	chr5:98899079-98899080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374118339	chr5:98899118-98899119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547010745	chr5:98899127-98899128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566726543	chr5:98899152-98899153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368304364	chr5:98899167-98899168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538267651	chr5:98899169-98899170	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181728216	chr5:98899178-98899179	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373694762	chr5:98899232-98899233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs147605624	chr5:98899233-98899234	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575002490	chr5:98899261-98899262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2548101	chr5:98899301-98899302	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186855718	chr5:98899332-98899333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572992116	chr5:98899346-98899347	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150154592	chr5:98899396-98899397	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98898800-98899400	Active TSS	HUES6 Cell Line	embryonic stem cell

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