Variant report

Variant	nsv521298
Chromosome Location	chr13:63986899-63992469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17280062	chr13:63986899-63986900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192374000	chr13:63986921-63986922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11840887	chr13:63986928-63986929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs8000383	chr13:63986930-63986931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184607084	chr13:63986939-63986940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138267343	chr13:63986953-63986954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189077440	chr13:63986972-63986973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535784634	chr13:63986980-63986981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370013156	chr13:63987004-63987005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114546113	chr13:63987029-63987030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534081523	chr13:63987165-63987166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558528912	chr13:63987196-63987197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577069848	chr13:63987230-63987231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149597970	chr13:63987260-63987261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538434494	chr13:63987268-63987269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554320212	chr13:63987269-63987270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143277466	chr13:63987315-63987316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181586911	chr13:63987320-63987321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74088703	chr13:63987436-63987437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79959072	chr13:63987461-63987462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558319337	chr13:63987486-63987487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578127979	chr13:63987493-63987494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141394986	chr13:63987527-63987528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147220625	chr13:63987530-63987531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9598579	chr13:63987536-63987537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76363203	chr13:63987568-63987569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562900208	chr13:63987569-63987570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184145284	chr13:63987588-63987589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548739201	chr13:63987649-63987650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566977167	chr13:63987675-63987676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533699749	chr13:63987716-63987717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553895430	chr13:63987717-63987718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9634907	chr13:63987740-63987741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535825577	chr13:63987774-63987775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117693916	chr13:63987805-63987806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9598580	chr13:63987828-63987829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572764866	chr13:63987830-63987831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9592271	chr13:63987897-63987898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189116677	chr13:63987902-63987903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535090790	chr13:63987937-63987938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553405188	chr13:63987942-63987943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572131162	chr13:63987958-63987959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376969862	chr13:63987972-63987973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17088308	chr13:63987977-63987978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181457172	chr13:63987992-63987993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186513604	chr13:63988007-63988008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562859590	chr13:63988014-63988015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192151050	chr13:63988037-63988038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548603274	chr13:63988116-63988117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560543348	chr13:63988117-63988118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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	chr13:63983400-63988800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:63988800-63989000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:63992400-63992600	Enhancers	HMEC	breast
4	chr13:63992400-63992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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