Variant report

Variant	nsv520719
Chromosome Location	chr5:120765218-120776375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 71 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10061417	chr5:120765218-120765219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182571482	chr5:120765227-120765228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531060267	chr5:120765243-120765244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16784	chr5:120765345-120765346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535305181	chr5:120765367-120765368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553709167	chr5:120765384-120765385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571832748	chr5:120765395-120765396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11955812	chr5:120765403-120765404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557580896	chr5:120765430-120765431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140570495	chr5:120765491-120765492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201735069	chr5:120765519-120765520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376802299	chr5:120765549-120765550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78710111	chr5:120765590-120765591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35164702	chr5:120765683-120765684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555028859	chr5:120765691-120765692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573604407	chr5:120765711-120765712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76226707	chr5:120765737-120765738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571956953	chr5:120765764-120765765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138491373	chr5:120765805-120765806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577560880	chr5:120765814-120765815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532779394	chr5:120765855-120765856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563530707	chr5:120765870-120765871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1120918	chr5:120765900-120765901	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs55959921	chr5:120765906-120765907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549474788	chr5:120765916-120765917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561082213	chr5:120765966-120765967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528508167	chr5:120765979-120765980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192555168	chr5:120766201-120766202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536719696	chr5:120766210-120766211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1120917	chr5:120766251-120766252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573441855	chr5:120766272-120766273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534313927	chr5:120766317-120766318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143015573	chr5:120766326-120766327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56653439	chr5:120766361-120766362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145156000	chr5:120766376-120766377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544916550	chr5:120766408-120766409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11953721	chr5:120766414-120766415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575397535	chr5:120766416-120766417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375812384	chr5:120766436-120766437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113420319	chr5:120766474-120766475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576724335	chr5:120766475-120766476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542716440	chr5:120766493-120766494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528219964	chr5:120766678-120766679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112501409	chr5:120766684-120766685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528644498	chr5:120766693-120766694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568097115	chr5:120766698-120766699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35109731	chr5:120766717-120766718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77011235	chr5:120766722-120766723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7736421	chr5:120766728-120766729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551278616	chr5:120766756-120766757	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120765200-120766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:120766200-120766800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:120766400-120766600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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