Variant report

Variant	nsv349406
Chromosome Location	chr6:69371385-69371450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69367803..69371635-chr6:69469179..69471663,3	K562	blood:
2	chr6:69351017..69353999-chr6:69369365..69372357,2	K562	blood:
3	chr6:69368749..69371635-chr6:69469945..69471663,2	K562	blood:
4	chr6:69369288..69371482-chr6:69451738..69454482,2	K562	blood:
5	chr6:69361875..69366635-chr6:69366839..69371569,10	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6149629	chr6:69371385-69371386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374624366	chr6:69371412-69371413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543174547	chr6:69371421-69371422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9346232	chr6:69371430-69371431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372040529	chr6:69371431-69371432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3964250	chr6:69371437-69371438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564439109	chr6:69371439-69371440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4039388	chr6:69371442-69371443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577954510	chr6:69371448-69371449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:69364200-69399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:69365800-69377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:69367400-69371800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:69367600-69377600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:69367800-69371600	Weak transcription	Fetal Lung	lung
7	chr6:69368400-69371800	Weak transcription	Brain Anterior Caudate	brain
8	chr6:69368400-69377800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:69368600-69376000	Weak transcription	K562	blood

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