Variant report

Variant	esv3355006
Chromosome Location	chr6:62662593-62667191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 450 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533380026	chr6:62662596-62662597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149182495	chr6:62662601-62662602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6455094	chr6:62662622-62662623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551099771	chr6:62662626-62662627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9345810	chr6:62662651-62662652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9345811	chr6:62662663-62662664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561542004	chr6:62662716-62662717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9363573	chr6:62662719-62662720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545965148	chr6:62662720-62662721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547728996	chr6:62662722-62662723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192999807	chr6:62662729-62662730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73482851	chr6:62662750-62662751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184215791	chr6:62662754-62662755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188411833	chr6:62662771-62662772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191482926	chr6:62662782-62662783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538806820	chr6:62662841-62662842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554022235	chr6:62662862-62662863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375482877	chr6:62662893-62662894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9453711	chr6:62662938-62662939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs542970151	chr6:62662950-62662951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139300366	chr6:62662972-62662973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141592723	chr6:62663025-62663026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147033450	chr6:62663040-62663041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115760468	chr6:62663044-62663045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9453714	chr6:62663054-62663055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556115087	chr6:62663083-62663084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560343344	chr6:62663127-62663128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148122705	chr6:62663161-62663162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549309917	chr6:62663167-62663168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9453717	chr6:62663172-62663173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141880508	chr6:62663178-62663179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549530817	chr6:62663179-62663180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570542829	chr6:62663204-62663205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575693053	chr6:62663205-62663206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116709599	chr6:62663228-62663229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553985429	chr6:62663290-62663291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565929187	chr6:62663292-62663293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1553395	chr6:62663298-62663299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554807997	chr6:62663351-62663352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576260810	chr6:62663352-62663353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544560543	chr6:62663401-62663402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530464203	chr6:62663406-62663407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556317648	chr6:62663427-62663428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367600948	chr6:62663447-62663448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556241496	chr6:62663522-62663523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577696453	chr6:62663546-62663547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545146479	chr6:62663547-62663548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374088014	chr6:62663582-62663583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574498366	chr6:62663598-62663599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527836108	chr6:62663607-62663608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62660800-62663200	Weak transcription	Fetal Brain Male	brain
3	chr6:62661400-62662600	Enhancers	Fetal Intestine Small	intestine
4	chr6:62661600-62662600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:62661600-62662800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:62662400-62663200	Weak transcription	Fetal Intestine Large	intestine
7	chr6:62662600-62663600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:62662600-62663600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:62662800-62663200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:62663200-62664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:62663200-62664200	Enhancers	Fetal Intestine Large	intestine
12	chr6:62663200-62664400	Enhancers	Fetal Brain Male	brain
13	chr6:62663600-62664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:62663600-62664200	Enhancers	Fetal Intestine Small	intestine
15	chr6:62663800-62664200	Enhancers	Brain Substantia Nigra	brain
16	chr6:62664000-62668200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:62664200-62668000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:62664400-62668000	Weak transcription	Fetal Brain Male	brain

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