Variant report

Variant	esv3332001
Chromosome Location	chr6:62723391-62726171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375805976	chr6:62723401-62723402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370165089	chr6:62723403-62723404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10679862	chr6:62723405-62723406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201798325	chr6:62723406-62723407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143236233	chr6:62723433-62723434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191001601	chr6:62723464-62723465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560487892	chr6:62723535-62723536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527733431	chr6:62723549-62723550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549400122	chr6:62723558-62723559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567722886	chr6:62723561-62723562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538358912	chr6:62723568-62723569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553923641	chr6:62723593-62723594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77052848	chr6:62723658-62723659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538951012	chr6:62723771-62723772	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535980400	chr6:62723801-62723802	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554491414	chr6:62723808-62723809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182879716	chr6:62723839-62723840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs72884469	chr6:62723864-62723865	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs6934836	chr6:62723867-62723868	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575701698	chr6:62723915-62723916	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543528881	chr6:62723930-62723931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564916365	chr6:62723947-62723948	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149180141	chr6:62723949-62723950	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143394841	chr6:62723964-62723965	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377215723	chr6:62723971-62723972	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187516622	chr6:62724029-62724030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148375921	chr6:62724033-62724034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573488135	chr6:62724057-62724058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369367816	chr6:62724119-62724120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191613250	chr6:62724126-62724127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543009233	chr6:62724138-62724139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141586561	chr6:62724175-62724176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534053713	chr6:62724253-62724254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561289437	chr6:62724262-62724263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147030704	chr6:62724301-62724302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138267896	chr6:62724326-62724327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111706511	chr6:62724342-62724343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532789183	chr6:62724343-62724344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369195745	chr6:62724379-62724380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559570208	chr6:62724424-62724425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532521789	chr6:62724447-62724448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143923160	chr6:62724509-62724510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150630792	chr6:62724589-62724590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576822830	chr6:62724705-62724706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536568697	chr6:62724706-62724707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554120466	chr6:62724735-62724736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569343301	chr6:62724754-62724755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536738508	chr6:62724763-62724764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188064744	chr6:62724770-62724771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17457213	chr6:62724799-62724800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62719200-62723600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62719600-62723600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:62722400-62723600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:62722400-62724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:62723600-62724000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:62723600-62724000	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:62723600-62724400	Enhancers	Primary B cells from cord blood	blood
8	chr6:62724000-62724400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:62724400-62749400	Weak transcription	Primary B cells from cord blood	blood

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