Variant report

Variant	esv14121
Chromosome Location	chr6:141055120-141055737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1521144	chr6:141055121-141055122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116346318	chr6:141055145-141055146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538178660	chr6:141055160-141055161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556188322	chr6:141055183-141055184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571203062	chr6:141055196-141055197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538682100	chr6:141055206-141055207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140390149	chr6:141055303-141055304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376800082	chr6:141055307-141055308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542835570	chr6:141055315-141055316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554770808	chr6:141055367-141055368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576318927	chr6:141055368-141055369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550299981	chr6:141055480-141055481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530313469	chr6:141055505-141055506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150386509	chr6:141055621-141055622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570474796	chr6:141055634-141055635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115364174	chr6:141055652-141055653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186818406	chr6:141055699-141055700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141053200-141057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:141053400-141057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:141053800-141057400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:141054800-141055200	Enhancers	NHDF-Ad	bronchial
5	chr6:141054800-141055200	Enhancers	Osteobl	bone
6	chr6:141055000-141057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:141055200-141057200	Weak transcription	Osteobl	bone
8	chr6:141055200-141057600	Weak transcription	NHDF-Ad	bronchial

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