Variant report

Variant	esv3404369
Chromosome Location	chr6:63339143-63341141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184601766	chr6:63340465-63340466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534621868	chr6:63340474-63340475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373816579	chr6:63340496-63340497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546726865	chr6:63340548-63340549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117625128	chr6:63340552-63340553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536741351	chr6:63340579-63340580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201634721	chr6:63340652-63340653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368852876	chr6:63340657-63340658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73500890	chr6:63340662-63340663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34081379	chr6:63340682-63340683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577942189	chr6:63340691-63340692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187433850	chr6:63340706-63340707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577427982	chr6:63340709-63340710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2782376	chr6:63340759-63340760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527291313	chr6:63340788-63340789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574976225	chr6:63340838-63340839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59360373	chr6:63340945-63340946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545830494	chr6:63340950-63340951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530637026	chr6:63340982-63340983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545774975	chr6:63340984-63340985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148021622	chr6:63341011-63341012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528384078	chr6:63341040-63341041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2843040	chr6:63341061-63341062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568231734	chr6:63341071-63341072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529082111	chr6:63341077-63341078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375786674	chr6:63341095-63341096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63340400-63341200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:63340600-63340800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:63340600-63340800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:63340600-63341000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:63340600-63341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:63340800-63341200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:63340800-63341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:63340800-63341800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:63341000-63342000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links