Variant report

Variant	esv3451975
Chromosome Location	chr6:65187260-65188701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59742995	chr6:65187301-65187302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs207467057	chr6:65187334-65187335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570978767	chr6:65187347-65187348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184413043	chr6:65187354-65187355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552006411	chr6:65187397-65187398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138449016	chr6:65187416-65187417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35535191	chr6:65187442-65187443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71551589	chr6:65187444-65187445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34711677	chr6:65187445-65187446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188729540	chr6:65187464-65187465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73455416	chr6:65187518-65187519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149281971	chr6:65187529-65187530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111773114	chr6:65187557-65187558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540379326	chr6:65187580-65187581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561680491	chr6:65187611-65187612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117512369	chr6:65187643-65187644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537618395	chr6:65187671-65187672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73767822	chr6:65187729-65187730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137868884	chr6:65187763-65187764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372777298	chr6:65187785-65187786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3904796	chr6:65187818-65187819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142368509	chr6:65187851-65187852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146381980	chr6:65187852-65187853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368993368	chr6:65187906-65187907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571084049	chr6:65187933-65187934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181233870	chr6:65187973-65187974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186062209	chr6:65187974-65187975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568499756	chr6:65187983-65187984	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65185800-65187800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:65186600-65188000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:65187000-65188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:65187200-65188000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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