Variant report

Variant	nsv518640
Chromosome Location	chr13:62671507-62680229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs188671	chr13:62671507-62671508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11840091	chr13:62671569-62671570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563992128	chr13:62671591-62671592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182328662	chr13:62672218-62672219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1505532	chr13:62672225-62672226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147194079	chr13:62672228-62672229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541965078	chr13:62672238-62672239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188072334	chr13:62672258-62672259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369788639	chr13:62672284-62672285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140400114	chr13:62672296-62672297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149704406	chr13:62672373-62672374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571197980	chr13:62672386-62672387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559570639	chr13:62674404-62674405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532808610	chr13:62674411-62674412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73222846	chr13:62674419-62674420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181332520	chr13:62674442-62674443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73222847	chr13:62674450-62674451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548777896	chr13:62674468-62674469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs167434	chr13:62674473-62674474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528255813	chr13:62674480-62674481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546921492	chr13:62674501-62674502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571563348	chr13:62674530-62674531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539875044	chr13:62674539-62674540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529279053	chr13:62674544-62674545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569922770	chr13:62674574-62674575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184280	chr13:62674584-62674585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11618499	chr13:62674590-62674591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573895979	chr13:62674609-62674610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146861099	chr13:62674637-62674638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185223539	chr13:62674664-62674665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150718476	chr13:62674687-62674688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80121040	chr13:62674716-62674717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140493162	chr13:62674749-62674750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548234734	chr13:62674807-62674808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575097389	chr13:62674823-62674824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117443482	chr13:62674848-62674849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189253731	chr13:62674885-62674886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571809728	chr13:62674900-62674901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73505018	chr13:62674910-62674911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563810066	chr13:62674934-62674935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546801000	chr13:62674951-62674952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs308686	chr13:62675044-62675045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532470197	chr13:62675080-62675081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186300057	chr13:62675136-62675137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36101810	chr13:62675143-62675144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570039305	chr13:62675186-62675187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367971203	chr13:62675191-62675192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11618767	chr13:62675225-62675226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150438188	chr13:62675230-62675231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73505023	chr13:62675264-62675265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62671400-62671600	Enhancers	Adipose Nuclei	Adipose
2	chr13:62672200-62672400	Enhancers	Adipose Nuclei	Adipose
3	chr13:62674400-62674600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:62674600-62689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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