Variant report

Variant	nsv599557
Chromosome Location	chr5:117877920-117880615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577394568	chr5:117878046-117878047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545897227	chr5:117878049-117878050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs199684443	chr5:117878070-117878071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200535876	chr5:117878104-117878105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572850406	chr5:117878111-117878112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201306240	chr5:117878133-117878134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142319605	chr5:117878138-117878139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191257886	chr5:117878145-117878146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111161457	chr5:117878152-117878153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111163470	chr5:117878164-117878165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201018956	chr5:117878166-117878167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201541798	chr5:117878167-117878168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200350910	chr5:117878173-117878174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565838012	chr5:117878192-117878193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182330822	chr5:117878196-117878197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548278837	chr5:117878201-117878202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374908560	chr5:117878205-117878206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571723984	chr5:117878213-117878214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568486837	chr5:117878216-117878217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537320928	chr5:117878220-117878221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111163471	chr5:117878224-117878225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147487921	chr5:117878237-117878238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557668396	chr5:117878241-117878242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577333598	chr5:117878253-117878254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111217414	chr5:117878266-117878267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141874239	chr5:117878268-117878269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368156336	chr5:117878269-117878270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377759763	chr5:117878275-117878276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146907918	chr5:117878287-117878288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371308046	chr5:117878293-117878294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115290290	chr5:117878299-117878300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572133767	chr5:117878313-117878314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115939187	chr5:117878315-117878316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553060637	chr5:117878321-117878322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111207372	chr5:117878327-117878328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111207373	chr5:117878343-117878344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201432344	chr5:117878359-117878360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111066642	chr5:117878360-117878361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201729811	chr5:117878362-117878363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200455938	chr5:117878364-117878365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111207375	chr5:117878373-117878374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541986995	chr5:117878378-117878379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576228242	chr5:117878379-117878380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555065980	chr5:117878389-117878390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111207376	chr5:117878390-117878391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs56698697	chr5:117880421-117880422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543270622	chr5:117880427-117880428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57449241	chr5:117880452-117880453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72795552	chr5:117880454-117880455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545207804	chr5:117880464-117880465	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117875600-117878400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr5:117880400-117880800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:117880400-117881000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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