Variant report

Variant	nsv508354
Chromosome Location	chr5:45335998-45362819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184059098	chr5:45336018-45336019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566999923	chr5:45336030-45336031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560605745	chr5:45336035-45336036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142352183	chr5:45336063-45336064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553165922	chr5:45336064-45336065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187613678	chr5:45336101-45336102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538967617	chr5:45336106-45336107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371110250	chr5:45336124-45336125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559201228	chr5:45336143-45336144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575590347	chr5:45336179-45336180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544578985	chr5:45336231-45336232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145952264	chr5:45336261-45336262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564701883	chr5:45336276-45336277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532165267	chr5:45336302-45336303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575011800	chr5:45336342-45336343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550565474	chr5:45336347-45336348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540700127	chr5:45336348-45336349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193076344	chr5:45336367-45336368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529867456	chr5:45336392-45336393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73099463	chr5:45336397-45336398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185710364	chr5:45336415-45336416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565168687	chr5:45336422-45336423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190623303	chr5:45336431-45336432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548413828	chr5:45336437-45336438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16902113	chr5:45336471-45336472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181925363	chr5:45336480-45336481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16902114	chr5:45336501-45336502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566713585	chr5:45336528-45336529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534032240	chr5:45336545-45336546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539214890	chr5:45336602-45336603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559021941	chr5:45336610-45336611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184502499	chr5:45336611-45336612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576933375	chr5:45336612-45336613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552667127	chr5:45336645-45336646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570743291	chr5:45336725-45336726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542248877	chr5:45336751-45336752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6861150	chr5:45336789-45336790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556414414	chr5:45336793-45336794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555021965	chr5:45336809-45336810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188003255	chr5:45336810-45336811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534335109	chr5:45336855-45336856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554295513	chr5:45336920-45336921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572985929	chr5:45336954-45336955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545164391	chr5:45336987-45336988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576710727	chr5:45344800-45344801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372675182	chr5:45344809-45344810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149545376	chr5:45344820-45344821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561866907	chr5:45344822-45344823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114262321	chr5:45344823-45344824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189586398	chr5:45344849-45344850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45334400-45336800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr5:45334600-45337000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr5:45335000-45337000	Enhancers	Fetal Heart	heart
4	chr5:45344800-45345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:45345600-45347200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr5:45345600-45347200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:45345800-45347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr5:45345800-45347000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr5:45347000-45347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:45353600-45354200	Enhancers	Fetal Brain Male	brain
11	chr5:45361400-45361600	Enhancers	Pancreas	Pancrea
12	chr5:45361600-45363400	Weak transcription	Pancreas	Pancrea

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