Variant report

Variant	esv3441198
Chromosome Location	chr6:67225431-67229129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376320142	chr6:67225445-67225446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140634249	chr6:67225451-67225452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560242626	chr6:67225468-67225469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62417315	chr6:67225475-67225476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543164694	chr6:67225516-67225517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545460996	chr6:67225533-67225534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374019304	chr6:67225539-67225540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562954429	chr6:67225595-67225596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532013478	chr6:67225620-67225621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563752462	chr6:67225644-67225645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79222604	chr6:67225763-67225764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531190134	chr6:67225819-67225820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113787208	chr6:67225889-67225890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182011187	chr6:67225918-67225919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138219817	chr6:67225929-67225930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547815983	chr6:67225930-67225931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200552465	chr6:67225937-67225938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9453812	chr6:67226024-67226025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185067394	chr6:67226039-67226040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568987203	chr6:67226059-67226060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74415808	chr6:67226070-67226071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375703711	chr6:67226071-67226072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529129256	chr6:67226102-67226103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537735016	chr6:67226125-67226126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12214688	chr6:67226138-67226139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577219241	chr6:67226172-67226173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539793380	chr6:67226208-67226209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13200213	chr6:67226224-67226225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573643680	chr6:67226248-67226249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542378223	chr6:67226279-67226280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533487073	chr6:67226309-67226310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374669355	chr6:67226315-67226316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144156419	chr6:67226386-67226387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148264754	chr6:67226471-67226472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189830026	chr6:67226492-67226493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528000802	chr6:67226495-67226496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547736559	chr6:67226506-67226507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201199292	chr6:67226562-67226563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191160907	chr6:67226605-67226606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141325108	chr6:67226610-67226611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568704502	chr6:67226612-67226613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570100305	chr6:67226636-67226637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181144639	chr6:67226644-67226645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367672648	chr6:67226677-67226678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571165495	chr6:67226712-67226713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533848797	chr6:67226736-67226737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150780457	chr6:67226816-67226817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573582311	chr6:67226853-67226854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186377993	chr6:67226915-67226916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556025205	chr6:67226939-67226940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67224800-67228200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:67228200-67229200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:67228200-67229200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:67228400-67228800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:67228400-67229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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