Variant report

Variant	esv2759449
Chromosome Location	chr6:81813676-81835277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186484854	chr6:81813689-81813690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528477549	chr6:81813695-81813696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77006148	chr6:81813697-81813698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2476448	chr6:81813723-81813724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369692758	chr6:81813724-81813725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6909089	chr6:81813727-81813728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551224541	chr6:81813749-81813750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6931647	chr6:81813765-81813766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9443869	chr6:81813772-81813773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191024912	chr6:81813776-81813777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182735119	chr6:81813792-81813793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567112782	chr6:81813824-81813825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538287828	chr6:81813929-81813930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186128700	chr6:81813960-81813961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190709693	chr6:81813962-81813963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537529623	chr6:81813963-81813964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554613678	chr6:81813973-81813974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78506788	chr6:81813992-81813993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71724210	chr6:81814059-81814060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564596338	chr6:81814067-81814068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553793638	chr6:81814068-81814069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202105551	chr6:81814069-81814070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200859355	chr6:81814070-81814071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577059570	chr6:81814090-81814091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545468462	chr6:81814114-81814115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565260396	chr6:81814150-81814151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146290898	chr6:81814160-81814161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113279613	chr6:81814167-81814168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75334158	chr6:81814168-81814169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200359197	chr6:81814173-81814174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78951775	chr6:81814174-81814175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374610325	chr6:81814180-81814181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529513186	chr6:81814193-81814194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35854854	chr6:81814195-81814196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368858316	chr6:81814207-81814208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183361219	chr6:81814251-81814252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139633163	chr6:81814305-81814306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9352925	chr6:81814306-81814307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9350903	chr6:81814317-81814318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9341844	chr6:81814324-81814325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144264001	chr6:81814335-81814336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554369428	chr6:81814361-81814362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557147825	chr6:81814368-81814369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146085839	chr6:81814370-81814371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533789166	chr6:81814420-81814421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553930670	chr6:81814442-81814443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377152067	chr6:81814468-81814469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577240957	chr6:81814533-81814534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557776095	chr6:81814548-81814549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201689486	chr6:81814556-81814557	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81813400-81814200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:81814200-81814600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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