Variant report

Variant	esv2442562
Chromosome Location	chr6:63492746-63494747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149135584	chr6:63492815-63492816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190035809	chr6:63492829-63492830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538627356	chr6:63492838-63492839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6920681	chr6:63492892-63492893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572291651	chr6:63492913-63492914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543424046	chr6:63492925-63492926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542440588	chr6:63492941-63492942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560720008	chr6:63492958-63492959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2501821	chr6:63492982-63492983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554025068	chr6:63492997-63492998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544256351	chr6:63493015-63493016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182488376	chr6:63493084-63493085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72885064	chr6:63493182-63493183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189192600	chr6:63493232-63493233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560653985	chr6:63493258-63493259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527963141	chr6:63493269-63493270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550388480	chr6:63493306-63493307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567820896	chr6:63493329-63493330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537943432	chr6:63493330-63493331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113093705	chr6:63493404-63493405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80133268	chr6:63493434-63493435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9341488	chr6:63493511-63493512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76666933	chr6:63493559-63493560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538292462	chr6:63493573-63493574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369253545	chr6:63493583-63493584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553708808	chr6:63493697-63493698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78032757	chr6:63493720-63493721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536105803	chr6:63493734-63493735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148095756	chr6:63493749-63493750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141617237	chr6:63493760-63493761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576578340	chr6:63493786-63493787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543209890	chr6:63493803-63493804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562881254	chr6:63493805-63493806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578036706	chr6:63493815-63493816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191845969	chr6:63493831-63493832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560505455	chr6:63493835-63493836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375000977	chr6:63493841-63493842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114442519	chr6:63493849-63493850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35268845	chr6:63493943-63493944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372725862	chr6:63493970-63493971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544034163	chr6:63493976-63493977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561567155	chr6:63493997-63493998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555957175	chr6:63494058-63494059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574274777	chr6:63494104-63494105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183754549	chr6:63494125-63494126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187208173	chr6:63494142-63494143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191710509	chr6:63494149-63494150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559977604	chr6:63494151-63494152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532204194	chr6:63494219-63494220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547090524	chr6:63494236-63494237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63487200-63500600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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