Variant report

Variant	esv1978517
Chromosome Location	chr6:132081823-132082395
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	chr6:132081696..132083980-chr6:132096330..132098091,2	MCF-7	breast:
2	chr6:132080391..132083102-chr6:132085234..132086926,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536484061	chr6:132081921-132081922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78386869	chr6:132081963-132081964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566626551	chr6:132081969-132081970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34252573	chr6:132081974-132081975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372141477	chr6:132081991-132081992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558999375	chr6:132082001-132082002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183932567	chr6:132082026-132082027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188826117	chr6:132082041-132082042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142077465	chr6:132082053-132082054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574748469	chr6:132082054-132082055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548234292	chr6:132082056-132082057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151168756	chr6:132082062-132082063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572119035	chr6:132082074-132082075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78764568	chr6:132082098-132082099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564205483	chr6:132082103-132082104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531236756	chr6:132082160-132082161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577922128	chr6:132082188-132082189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537605275	chr6:132082220-132082221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117029185	chr6:132082229-132082230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190351592	chr6:132082296-132082297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371301615	chr6:132082354-132082355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530283328	chr6:132082373-132082374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548382811	chr6:132082386-132082387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132077400-132083600	Weak transcription	HSMMtube	muscle
2	chr6:132078200-132082200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:132078400-132082200	Weak transcription	HSMM	muscle
4	chr6:132080400-132083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:132080600-132083200	Enhancers	Osteobl	bone
6	chr6:132080600-132086200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:132080800-132087400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:132081000-132085400	Weak transcription	Adipose Nuclei	Adipose
9	chr6:132081000-132087600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:132081400-132082800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:132081400-132083200	Weak transcription	Aorta	Aorta
12	chr6:132081400-132083400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:132081400-132083600	Weak transcription	HepG2	liver
14	chr6:132081600-132085400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:132081600-132085400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:132081600-132086200	Weak transcription	NH-A	brain
17	chr6:132081600-132086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:132081600-132086400	Weak transcription	Ovary	ovary
19	chr6:132081800-132082200	Weak transcription	NHDF-Ad	bronchial
20	chr6:132081800-132082200	Weak transcription	NHLF	lung
21	chr6:132081800-132086400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:132082200-132082800	Enhancers	NHDF-Ad	bronchial
23	chr6:132082200-132083000	Enhancers	HSMM	muscle
24	chr6:132082200-132083000	Enhancers	NHLF	lung
25	chr6:132082200-132087200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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