Variant report

Variant	esv3501887
Chromosome Location	chr6:144453229-144453854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77794624	chr6:144453236-144453237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534132091	chr6:144453238-144453239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118128898	chr6:144453262-144453263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567968816	chr6:144453270-144453271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545834740	chr6:144453309-144453310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180869060	chr6:144453320-144453321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537815990	chr6:144453321-144453322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556502947	chr6:144453341-144453342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186062875	chr6:144453362-144453363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539135395	chr6:144453368-144453369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375027974	chr6:144453419-144453420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559190064	chr6:144453441-144453442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35997492	chr6:144453446-144453447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13220400	chr6:144453535-144453536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13220402	chr6:144453540-144453541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11758194	chr6:144453618-144453619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9496875	chr6:144453626-144453627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9403550	chr6:144453661-144453662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572232977	chr6:144453689-144453690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531224663	chr6:144453694-144453695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199555998	chr6:144453699-144453700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561140164	chr6:144453726-144453727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576302396	chr6:144453735-144453736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543386688	chr6:144453768-144453769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113724413	chr6:144453801-144453802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551345178	chr6:144453818-144453819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181416920	chr6:144453829-144453830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	21364760	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
Breast cancer	17142309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144451200-144460400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:144452400-144456200	Weak transcription	NHLF	lung
3	chr6:144453000-144454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:144453000-144455200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:144453000-144455200	Weak transcription	NHDF-Ad	bronchial
6	chr6:144453000-144455200	Weak transcription	Osteobl	bone
7	chr6:144453000-144458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:144453200-144453600	Weak transcription	HUVEC	blood vessel
9	chr6:144453200-144455200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:144453200-144455400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:144453600-144456200	Enhancers	HUVEC	blood vessel

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