Variant report

Variant	esv3472671
Chromosome Location	chr6:62289622-62289897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34458349	chr6:62289623-62289624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571623768	chr6:62289624-62289625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557673781	chr6:62289665-62289666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572813919	chr6:62289678-62289679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540105652	chr6:62289679-62289680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369140010	chr6:62289714-62289715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386701886	chr6:62289715-62289716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560466426	chr6:62289718-62289719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369044197	chr6:62289720-62289721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60558628	chr6:62289737-62289738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529067863	chr6:62289743-62289744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544001730	chr6:62289751-62289752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562598903	chr6:62289767-62289768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532829728	chr6:62289775-62289776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551404432	chr6:62289792-62289793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566429957	chr6:62289793-62289794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184863825	chr6:62289796-62289797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9351927	chr6:62289828-62289829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369224516	chr6:62289831-62289832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111512133	chr6:62289849-62289850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189317955	chr6:62289886-62289887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111849021	chr6:62289887-62289888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62289400-62294200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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