Variant report

Variant	nsv525504
Chromosome Location	chr13:66201817-66205109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7990415	chr13:66201817-66201818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185770713	chr13:66201824-66201825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71202324	chr13:66201857-66201858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148360190	chr13:66201858-66201859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149124253	chr13:66201870-66201871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59218789	chr13:66201878-66201879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202121979	chr13:66201879-66201880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374595047	chr13:66201881-66201882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376872925	chr13:66201885-66201886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545329291	chr13:66201929-66201930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144885046	chr13:66201954-66201955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368386028	chr13:66201960-66201961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568149887	chr13:66202008-66202009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138732168	chr13:66202016-66202017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563765608	chr13:66202018-66202019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553680026	chr13:66202065-66202066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77178727	chr13:66202076-66202077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189802507	chr13:66202085-66202086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111671990	chr13:66202113-66202114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556024006	chr13:66202176-66202177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575957926	chr13:66202236-66202237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541620866	chr13:66202239-66202240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193164088	chr13:66202256-66202257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185330838	chr13:66202277-66202278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140353467	chr13:66202296-66202297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549478363	chr13:66202308-66202309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117567335	chr13:66202314-66202315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145429797	chr13:66202315-66202316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575890317	chr13:66202320-66202321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188536937	chr13:66202327-66202328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563970339	chr13:66202337-66202338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368545996	chr13:66202349-66202350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181293265	chr13:66202363-66202364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185024680	chr13:66202389-66202390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527348617	chr13:66202390-66202391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375906013	chr13:66202407-66202408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372227950	chr13:66202449-66202450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9540492	chr13:66202474-66202475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547221317	chr13:66202479-66202480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570560259	chr13:66202492-66202493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539025505	chr13:66202547-66202548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555785169	chr13:66202558-66202559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188224199	chr13:66202658-66202659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535366314	chr13:66202684-66202685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539005287	chr13:66202762-66202763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572162792	chr13:66202772-66202773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541256886	chr13:66202800-66202801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9564267	chr13:66202811-66202812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539279676	chr13:66202822-66202823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74091298	chr13:66202830-66202831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66200800-66204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:66204800-66205200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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