Variant report

Variant	esv3333847
Chromosome Location	chr6:72291462-72291925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368159127	chr6:72291470-72291471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9446417	chr6:72291479-72291480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148969090	chr6:72291522-72291523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9446418	chr6:72291534-72291535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9360466	chr6:72291561-72291562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556441657	chr6:72291573-72291574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568244593	chr6:72291590-72291591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368828032	chr6:72291591-72291592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202014879	chr6:72291599-72291600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376978809	chr6:72291600-72291601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200359188	chr6:72291602-72291603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551751586	chr6:72291604-72291605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553871324	chr6:72291618-72291619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12212834	chr6:72291621-72291622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546325460	chr6:72291665-72291666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180851705	chr6:72291675-72291676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558245800	chr6:72291679-72291680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564523640	chr6:72291681-72291682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143823701	chr6:72291726-72291727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543627047	chr6:72291781-72291782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185148385	chr6:72291826-72291827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554765017	chr6:72291847-72291848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529550041	chr6:72291871-72291872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534277245	chr6:72291886-72291887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	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
Developmental delay	21147756	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
Breast cancer	21364760	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
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72289400-72295400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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