Variant report

Variant	nsv965609
Chromosome Location	chr5:120196752-120201607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551936706	chr5:120196774-120196775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570117005	chr5:120196799-120196800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554526418	chr5:120196811-120196812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186325490	chr5:120196847-120196848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537663991	chr5:120196848-120196849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556049282	chr5:120196928-120196929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549844602	chr5:120196937-120196938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373898566	chr5:120196942-120196943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189158531	chr5:120196950-120196951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553533048	chr5:120196952-120196953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572083509	chr5:120196987-120196988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545612569	chr5:120197023-120197024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557847861	chr5:120197038-120197039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150990070	chr5:120197051-120197052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374988653	chr5:120197054-120197055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543226072	chr5:120197079-120197080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140873316	chr5:120197094-120197095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563190269	chr5:120197109-120197110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79128739	chr5:120197110-120197111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528990632	chr5:120197123-120197124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574774455	chr5:120197156-120197157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149755676	chr5:120197174-120197175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542052481	chr5:120197207-120197208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563806917	chr5:120197275-120197276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531085546	chr5:120197305-120197306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376177631	chr5:120197423-120197424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549637874	chr5:120197458-120197459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567956791	chr5:120197531-120197532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535366084	chr5:120197546-120197547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547351210	chr5:120197584-120197585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74272893	chr5:120197619-120197620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398065154	chr5:120197635-120197636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181616256	chr5:120197657-120197658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368682132	chr5:120197682-120197683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373825513	chr5:120197715-120197716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115769848	chr5:120197720-120197721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373134870	chr5:120197737-120197738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536848197	chr5:120197761-120197762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555173631	chr5:120197766-120197767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186383532	chr5:120197772-120197773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540935674	chr5:120197799-120197800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548666074	chr5:120197887-120197888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559622526	chr5:120197891-120197892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545847194	chr5:120197937-120197938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191380364	chr5:120198011-120198012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545394916	chr5:120198012-120198013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374359295	chr5:120198022-120198023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563620728	chr5:120198026-120198027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35380540	chr5:120198032-120198033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7730832	chr5:120198046-120198047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr5:120193000-120199800	Weak transcription	Fetal Lung	lung
2	chr5:120199800-120200200	Enhancers	Fetal Lung	lung
3	chr5:120200000-120203000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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