Variant report

Variant	esv3386899
Chromosome Location	chr6:145216042-145216304
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	chr6:145199307..145201397-chr6:145215115..145217715,2	MCF-7	breast:
2	chr6:145215634..145217242-chr6:145456840..145459220,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189714865	chr6:145216103-145216104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530403126	chr6:145216104-145216105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144798888	chr6:145216122-145216123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571572448	chr6:145216132-145216133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139661979	chr6:145216174-145216175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192364699	chr6:145216181-145216182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183612815	chr6:145216225-145216226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113146687	chr6:145216239-145216240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201492725	chr6:145216240-145216241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9376873	chr6:145216259-145216260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144547396	chr6:145216278-145216279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554751160	chr6:145216291-145216292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145210600-145217000	Weak transcription	Right Atrium	heart
2	chr6:145214400-145216400	Enhancers	A549	lung
3	chr6:145214800-145218400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:145215400-145218000	Weak transcription	HSMMtube	muscle
5	chr6:145215400-145220800	Enhancers	Osteobl	bone
6	chr6:145215800-145217600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:145215800-145218400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:145216000-145216400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:145216000-145217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:145216000-145217200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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