Variant report

Variant	nsv510588
Chromosome Location	chr13:62479354-62482716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568049051	chr13:62479383-62479384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187123005	chr13:62479396-62479397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572015933	chr13:62479492-62479493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566079745	chr13:62479526-62479527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375353780	chr13:62479629-62479630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539904229	chr13:62479657-62479658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74319948	chr13:62479679-62479680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116034280	chr13:62479757-62479758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192137890	chr13:62479759-62479760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74081689	chr13:62479811-62479812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183962487	chr13:62479825-62479826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371531837	chr13:62479844-62479845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147957062	chr13:62479878-62479879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141706591	chr13:62479879-62479880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532920788	chr13:62479922-62479923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550284358	chr13:62479952-62479953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201121925	chr13:62479962-62479963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117057697	chr13:62479975-62479976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530683643	chr13:62479978-62479979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376243734	chr13:62480028-62480029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116150600	chr13:62480048-62480049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567611121	chr13:62480095-62480096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528384647	chr13:62480103-62480104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547844209	chr13:62480142-62480143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187688344	chr13:62480153-62480154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372923452	chr13:62480170-62480171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142930703	chr13:62480230-62480231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539568997	chr13:62480279-62480280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73490748	chr13:62480359-62480360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570167113	chr13:62480381-62480382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189746087	chr13:62480426-62480427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374321543	chr13:62480472-62480473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377113544	chr13:62480483-62480484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566033263	chr13:62480488-62480489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73219224	chr13:62480525-62480526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574037047	chr13:62480528-62480529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182490617	chr13:62480546-62480547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552723147	chr13:62480548-62480549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117299938	chr13:62480551-62480552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544786299	chr13:62480562-62480563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563347560	chr13:62480589-62480590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575443833	chr13:62481271-62481272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188440197	chr13:62481313-62481314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138808039	chr13:62481320-62481321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573037485	chr13:62481330-62481331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540163524	chr13:62481368-62481369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565143868	chr13:62481382-62481383	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62477800-62480600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:62481200-62481400	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links