Variant report

Variant	esv3423105
Chromosome Location	chr6:64070493-64074791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 229 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535982692	chr6:64070502-64070503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532789669	chr6:64070506-64070507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534361440	chr6:64070510-64070511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368520896	chr6:64070553-64070554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552552454	chr6:64070562-64070563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188843753	chr6:64070563-64070564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192808874	chr6:64070573-64070574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561129089	chr6:64070577-64070578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576587002	chr6:64070595-64070596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145554774	chr6:64070608-64070609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565477345	chr6:64070667-64070668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532847159	chr6:64070668-64070669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541393567	chr6:64070670-64070671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201057388	chr6:64070710-64070711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559809732	chr6:64070745-64070746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530185023	chr6:64070749-64070750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7381742	chr6:64070765-64070766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569316345	chr6:64070777-64070778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1779760	chr6:64070782-64070783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149806404	chr6:64070818-64070819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552438100	chr6:64070828-64070829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570614772	chr6:64070857-64070858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534625567	chr6:64070858-64070859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183333837	chr6:64070874-64070875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112351660	chr6:64070898-64070899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567751624	chr6:64070909-64070910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs482904	chr6:64070910-64070911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140518398	chr6:64070947-64070948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370060409	chr6:64070954-64070955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7382020	chr6:64070970-64070971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559106701	chr6:64070971-64070972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577442730	chr6:64070975-64070976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541764284	chr6:64070987-64070988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111808105	chr6:64071001-64071002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187064414	chr6:64071032-64071033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542340284	chr6:64071033-64071034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563672040	chr6:64071037-64071038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531043921	chr6:64071042-64071043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570986464	chr6:64071049-64071050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552058635	chr6:64071064-64071065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141155447	chr6:64071098-64071099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538320379	chr6:64071135-64071136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115147562	chr6:64071153-64071154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113736386	chr6:64071182-64071183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567714340	chr6:64071201-64071202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575306114	chr6:64071203-64071204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148253700	chr6:64071253-64071254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375509962	chr6:64071268-64071269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556923815	chr6:64071278-64071279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1723502	chr6:64071289-64071290	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64040400-64071200	Weak transcription	Placenta	Placenta
2	chr6:64062600-64071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:64066000-64071400	Weak transcription	A549	lung
4	chr6:64066000-64071600	Weak transcription	HepG2	liver
5	chr6:64071200-64072000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:64071400-64072400	ZNF genes & repeats	A549	lung
7	chr6:64071600-64072400	ZNF genes & repeats	HepG2	liver
8	chr6:64071800-64072000	Weak transcription	Placenta	Placenta
9	chr6:64072000-64072600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:64072400-64072800	Weak transcription	HepG2	liver
11	chr6:64072400-64078200	Weak transcription	A549	lung
12	chr6:64072600-64081400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:64072800-64073200	Enhancers	HepG2	liver

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