Variant report

Variant	nsv599419
Chromosome Location	chr5:113327561-113339698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549307094	chr5:113335224-113335225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570373839	chr5:113335228-113335229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11241256	chr5:113335230-113335231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531372685	chr5:113335247-113335248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549492219	chr5:113335277-113335278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571343176	chr5:113335279-113335280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538693845	chr5:113335313-113335314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374658598	chr5:113335330-113335331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs296501	chr5:113335389-113335390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149690972	chr5:113335456-113335457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567115430	chr5:113335472-113335473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567870211	chr5:113335473-113335474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114993848	chr5:113335475-113335476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556058953	chr5:113335513-113335514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370896629	chr5:113335515-113335516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116549619	chr5:113335528-113335529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556249887	chr5:113335530-113335531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145591460	chr5:113335577-113335578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139669637	chr5:113335615-113335616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560211340	chr5:113335646-113335647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183850764	chr5:113335658-113335659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542443929	chr5:113335681-113335682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561265910	chr5:113335711-113335712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs296500	chr5:113335718-113335719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558875975	chr5:113335728-113335729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188738562	chr5:113335762-113335763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549767308	chr5:113335771-113335772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191072516	chr5:113335776-113335777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532138996	chr5:113335833-113335834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113076661	chr5:113335839-113335840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577176170	chr5:113335852-113335853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182101021	chr5:113335892-113335893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565762857	chr5:113335909-113335910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367899954	chr5:113335917-113335918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372087387	chr5:113335923-113335924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73256306	chr5:113335947-113335948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549281889	chr5:113335959-113335960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186875267	chr5:113336075-113336076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56923243	chr5:113336118-113336119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556525323	chr5:113336140-113336141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570034813	chr5:113336154-113336155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564031016	chr5:113336156-113336157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538639767	chr5:113336168-113336169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567707726	chr5:113336800-113336801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184100573	chr5:113336807-113336808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147644855	chr5:113336808-113336809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542423896	chr5:113336809-113336810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78303280	chr5:113336829-113336830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs296499	chr5:113336832-113336833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553724525	chr5:113336861-113336862	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113335200-113336200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:113336800-113337200	Enhancers	Skeletal Muscle Male	skeletal muscle

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