Variant report

Variant	esv3382383
Chromosome Location	chr6:147461500-147461690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147461402..147463425-chr6:147531860..147534033,2	K562	blood:
2	chr6:147461207..147462939-chr6:147465358..147467651,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187499271	chr6:147461511-147461512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143115160	chr6:147461536-147461537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76584891	chr6:147461540-147461541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193276944	chr6:147461542-147461543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372878048	chr6:147461543-147461544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9497714	chr6:147461544-147461545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71031015	chr6:147461565-147461566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139925502	chr6:147461582-147461583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528125516	chr6:147461595-147461596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141990572	chr6:147461598-147461599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572067632	chr6:147461599-147461600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541055502	chr6:147461608-147461609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562007030	chr6:147461616-147461617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183306345	chr6:147461623-147461624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530438612	chr6:147461625-147461626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545952736	chr6:147461632-147461633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543624245	chr6:147461644-147461645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570506324	chr6:147461645-147461646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3031204	chr6:147461651-147461652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533488461	chr6:147461658-147461659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397835492	chr6:147461661-147461662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201027931	chr6:147461666-147461667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577240790	chr6:147461677-147461678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2328805	chr6:147461678-147461679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141520781	chr6:147461684-147461685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375718672	chr6:147461687-147461688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147434800-147462800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:147449200-147462800	Weak transcription	Osteobl	bone
3	chr6:147457200-147462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:147460400-147462800	Weak transcription	K562	blood
5	chr6:147461000-147462200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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