Variant report

Variant	esv3496427
Chromosome Location	chr6:75719982-75724280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559002107	chr6:75720043-75720044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532909087	chr6:75720049-75720050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189004135	chr6:75720075-75720076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530689391	chr6:75720119-75720120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200414226	chr6:75720137-75720138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549276530	chr6:75720174-75720175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201859348	chr6:75720179-75720180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528276271	chr6:75720187-75720188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546866448	chr6:75720205-75720206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566166822	chr6:75720259-75720260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539946927	chr6:75720260-75720261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557817838	chr6:75720267-75720268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570051728	chr6:75720290-75720291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537310376	chr6:75720318-75720319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556009242	chr6:75720331-75720332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200210466	chr6:75720332-75720333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202090876	chr6:75720334-75720335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541223489	chr6:75720335-75720336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150006947	chr6:75720339-75720340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200816294	chr6:75720371-75720372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192698847	chr6:75720397-75720398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577271164	chr6:75720413-75720414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553591134	chr6:75720431-75720432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563102420	chr6:75720455-75720456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530508557	chr6:75720458-75720459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183967557	chr6:75720496-75720497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561160813	chr6:75720504-75720505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139785394	chr6:75720533-75720534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546780445	chr6:75720538-75720539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145217207	chr6:75720540-75720541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533242333	chr6:75720544-75720545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150569167	chr6:75720546-75720547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139770505	chr6:75720554-75720555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113654664	chr6:75720556-75720557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113187074	chr6:75720593-75720594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534988448	chr6:75720617-75720618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112068043	chr6:75720652-75720653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149808704	chr6:75720691-75720692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545305062	chr6:75720699-75720700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556994176	chr6:75720733-75720734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112864564	chr6:75720762-75720763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542595234	chr6:75720769-75720770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181390879	chr6:75720771-75720772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10943232	chr6:75720777-75720778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9447411	chr6:75720786-75720787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113766848	chr6:75720801-75720802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113382267	chr6:75720805-75720806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532320517	chr6:75720818-75720819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550531029	chr6:75720843-75720844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563801909	chr6:75720854-75720855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75707800-75721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75721400-75722000	Enhancers	Stomach Smooth Muscle	stomach
3	chr6:75721600-75721800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:75721600-75722000	Enhancers	Duodenum Smooth Muscle	Duodenum

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