Variant report

Variant	esv3445526
Chromosome Location	chr6:78311158-78314756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1902968	chr6:78311171-78311172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76499261	chr6:78311200-78311201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545083879	chr6:78311281-78311282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565014808	chr6:78311315-78311316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3003960	chr6:78311359-78311360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113483547	chr6:78311417-78311418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191386191	chr6:78311437-78311438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529915210	chr6:78311490-78311491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546897749	chr6:78311502-78311503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550014684	chr6:78311513-78311514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73457508	chr6:78311612-78311613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552241480	chr6:78311671-78311672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569053888	chr6:78311708-78311709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538411254	chr6:78311739-78311740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138332089	chr6:78311757-78311758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149628240	chr6:78311758-78311759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554514306	chr6:78311781-78311782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78238020	chr6:78311786-78311787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144349116	chr6:78311800-78311801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148761288	chr6:78311817-78311818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552825142	chr6:78311853-78311854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571352243	chr6:78311869-78311870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544313907	chr6:78311871-78311872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560894797	chr6:78311946-78311947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72561958	chr6:78311996-78311997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55695228	chr6:78311997-78311998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111521022	chr6:78311998-78311999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112317451	chr6:78312001-78312002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117379763	chr6:78312022-78312023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2504318	chr6:78312030-78312031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144062521	chr6:78312033-78312034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184207021	chr6:78312170-78312171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562983503	chr6:78312173-78312174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531677929	chr6:78312237-78312238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188490917	chr6:78312251-78312252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548684311	chr6:78312254-78312255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111914303	chr6:78312262-78312263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568520312	chr6:78312344-78312345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34528182	chr6:78312369-78312370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181660275	chr6:78312393-78312394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34795846	chr6:78312398-78312399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35065557	chr6:78312425-78312426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35282696	chr6:78312430-78312431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2504316	chr6:78312460-78312461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2504315	chr6:78312489-78312490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534446052	chr6:78312504-78312505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13213237	chr6:78312518-78312519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201343699	chr6:78312524-78312525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71212825	chr6:78312535-78312536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75419749	chr6:78312539-78312540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78307200-78317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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