Variant report

Variant	esv3396652
Chromosome Location	chr13:76458023-76458467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541902892	chr13:76458051-76458052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563175965	chr13:76458062-76458063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61959597	chr13:76458107-76458108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9544065	chr13:76458109-76458110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs370356037	chr13:76458110-76458111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199792311	chr13:76458123-76458124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71127597	chr13:76458126-76458127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571448949	chr13:76458153-76458154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564012860	chr13:76458172-76458173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528289412	chr13:76458180-76458181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546351593	chr13:76458188-76458189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565839796	chr13:76458215-76458216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9544066	chr13:76458239-76458240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9544067	chr13:76458253-76458254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536393562	chr13:76458254-76458255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548655318	chr13:76458270-76458271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9544068	chr13:76458272-76458273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538745778	chr13:76458284-76458285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111757204	chr13:76458286-76458287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569986228	chr13:76458310-76458311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537423605	chr13:76458327-76458328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7995080	chr13:76458346-76458347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs377094901	chr13:76458351-76458352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141875235	chr13:76458375-76458376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7331372	chr13:76458406-76458407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150620836	chr13:76458419-76458420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61555542	chr13:76458449-76458450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190384644	chr13:76458453-76458454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574964542	chr13:76458455-76458456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375664196	chr13:76458460-76458461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76440000-76469200	Weak transcription	HSMM	muscle
2	chr13:76451800-76463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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