Variant report

Variant	esv3383458
Chromosome Location	chr6:80805233-80808331
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	chr6:80806693..80810912-chr6:80813925..80817766,4	K562	blood:
2	chr6:80802270..80806587-chr6:80809004..80813361,4	K562	blood:

Variant related genes	Relation type
ENSG00000083123	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531984746	chr6:80805450-80805451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376915853	chr6:80805536-80805537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545202227	chr6:80805542-80805543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61385135	chr6:80805543-80805544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561909680	chr6:80805614-80805615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2505947	chr6:80805631-80805632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547462311	chr6:80805632-80805633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563597620	chr6:80805639-80805640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185884518	chr6:80805658-80805659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550199137	chr6:80805670-80805671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530799760	chr6:80805673-80805674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569955711	chr6:80805759-80805760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10452561	chr6:80805796-80805797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563661059	chr6:80806713-80806714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191838634	chr6:80806746-80806747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146766183	chr6:80806750-80806751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566081293	chr6:80806763-80806764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148823209	chr6:80806827-80806828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547729573	chr6:80806862-80806863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570595707	chr6:80806886-80806887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185026905	chr6:80806896-80806897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539281068	chr6:80806980-80806981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556206213	chr6:80806999-80807000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569689676	chr6:80807006-80807007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567011179	chr6:80807012-80807013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189085907	chr6:80807027-80807028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553532383	chr6:80807062-80807063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556559853	chr6:80807102-80807103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578124443	chr6:80807171-80807172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76574707	chr6:80807232-80807233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571721018	chr6:80807265-80807266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541294441	chr6:80807368-80807369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141585068	chr6:80807420-80807421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558189690	chr6:80807426-80807427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576650050	chr6:80807442-80807443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2256531	chr6:80807454-80807455	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543690193	chr6:80807465-80807466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74798691	chr6:80807472-80807473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541611565	chr6:80807482-80807483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529358482	chr6:80807513-80807514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528782723	chr6:80807541-80807542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201734012	chr6:80807571-80807572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563434050	chr6:80807572-80807573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112951129	chr6:80807768-80807769	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372310747	chr6:80807782-80807783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543153457	chr6:80807831-80807832	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142485472	chr6:80807850-80807851	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528514988	chr6:80807856-80807857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547645628	chr6:80807870-80807871	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537692819	chr6:80807945-80807946	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Developmental delay	21147756	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80805400-80805800	Enhancers	Fetal Thymus	thymus
2	chr6:80807600-80808200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:80808200-80808800	Enhancers	Fetal Heart	heart

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