Variant report

Variant	nsv599472
Chromosome Location	chr5:114326848-114333789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200992606	chr5:114327801-114327802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375200030	chr5:114327812-114327813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558047792	chr5:114327826-114327827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578004537	chr5:114327831-114327832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540584894	chr5:114327859-114327860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191790709	chr5:114327888-114327889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574019467	chr5:114327901-114327902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56239364	chr5:114327926-114327927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146883050	chr5:114327966-114327967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531777089	chr5:114327976-114327977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575373854	chr5:114328025-114328026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367909680	chr5:114328046-114328047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567008507	chr5:114328079-114328080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545612451	chr5:114328089-114328090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551959160	chr5:114328095-114328096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565189200	chr5:114328117-114328118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527973052	chr5:114328125-114328126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372268541	chr5:114328140-114328141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374723691	chr5:114328180-114328181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140737490	chr5:114328187-114328188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564085546	chr5:114328211-114328212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548777900	chr5:114328220-114328221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369047532	chr5:114328222-114328223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200818433	chr5:114328240-114328241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183250929	chr5:114328248-114328249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10478217	chr5:114328282-114328283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs367989202	chr5:114328286-114328287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10054511	chr5:114328290-114328291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571514659	chr5:114328312-114328313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199955090	chr5:114328322-114328323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529153494	chr5:114328332-114328333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573922650	chr5:114328401-114328402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149057302	chr5:114328423-114328424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556340214	chr5:114328434-114328435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576483058	chr5:114328495-114328496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57056024	chr5:114328496-114328497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550333892	chr5:114328497-114328498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565125993	chr5:114328528-114328529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151135188	chr5:114328549-114328550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541306991	chr5:114328569-114328570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115074437	chr5:114328595-114328596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186187343	chr5:114328596-114328597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548975214	chr5:114328689-114328690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543834047	chr5:114328704-114328705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568814442	chr5:114328741-114328742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190908279	chr5:114328758-114328759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551542649	chr5:114328762-114328763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78063306	chr5:114328763-114328764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60558966	chr5:114328778-114328779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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
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	16774939	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114327800-114328600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr5:114328400-114328800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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