Variant report

Variant	nsv462966
Chromosome Location	chr6:62660379-62690680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1517 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1517 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1516722	chr6:62660379-62660380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568072558	chr6:62660405-62660406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537543514	chr6:62660409-62660410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188930790	chr6:62660474-62660475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9345806	chr6:62660475-62660476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535202625	chr6:62660484-62660485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553622402	chr6:62660486-62660487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1516721	chr6:62660506-62660507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542570724	chr6:62660515-62660516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556915946	chr6:62660581-62660582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575168991	chr6:62660594-62660595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1516720	chr6:62660599-62660600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs146745209	chr6:62660608-62660609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139101113	chr6:62660631-62660632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540004610	chr6:62660650-62660651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561580812	chr6:62660678-62660679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374851090	chr6:62660685-62660686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550643088	chr6:62660686-62660687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569142131	chr6:62660711-62660712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530766145	chr6:62660735-62660736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552563719	chr6:62660856-62660857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570926346	chr6:62660910-62660911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12199199	chr6:62660911-62660912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534033581	chr6:62660928-62660929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181666145	chr6:62660930-62660931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568719941	chr6:62660936-62660937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536143724	chr6:62660985-62660986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186164365	chr6:62661005-62661006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557327858	chr6:62661022-62661023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560529004	chr6:62661034-62661035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61427170	chr6:62661074-62661075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545451718	chr6:62661130-62661131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10944893	chr6:62661156-62661157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs572586778	chr6:62661187-62661188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13212588	chr6:62661188-62661189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568714414	chr6:62661206-62661207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9363571	chr6:62661218-62661219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143988592	chr6:62661222-62661223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552927869	chr6:62661290-62661291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191457174	chr6:62661363-62661364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554462510	chr6:62661384-62661385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554131901	chr6:62661389-62661390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533273632	chr6:62661465-62661466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182538856	chr6:62661502-62661503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570889478	chr6:62661532-62661533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528596617	chr6:62661550-62661551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547158930	chr6:62661551-62661552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1516719	chr6:62661560-62661561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535625163	chr6:62661561-62661562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1516718	chr6:62661607-62661608	Enhancers 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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62659200-62661000	Weak transcription	Fetal Intestine Large	intestine
3	chr6:62660200-62660800	Enhancers	Fetal Brain Male	brain
4	chr6:62660200-62661400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:62660800-62663200	Weak transcription	Fetal Brain Male	brain
6	chr6:62661000-62661800	Enhancers	Fetal Intestine Large	intestine
7	chr6:62661400-62662600	Enhancers	Fetal Intestine Small	intestine
8	chr6:62661600-62662600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:62661600-62662800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:62661800-62662200	Weak transcription	Fetal Intestine Large	intestine
11	chr6:62662200-62662400	Enhancers	Fetal Intestine Large	intestine
12	chr6:62662400-62663200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:62662600-62663600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:62662600-62663600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:62662800-62663200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:62663200-62664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:62663200-62664200	Enhancers	Fetal Intestine Large	intestine
18	chr6:62663200-62664400	Enhancers	Fetal Brain Male	brain
19	chr6:62663600-62664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:62663600-62664200	Enhancers	Fetal Intestine Small	intestine
21	chr6:62663800-62664200	Enhancers	Brain Substantia Nigra	brain
22	chr6:62664000-62668200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:62664200-62668000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:62664400-62668000	Weak transcription	Fetal Brain Male	brain
25	chr6:62667600-62669200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr6:62668000-62669000	Enhancers	Fetal Brain Male	brain
27	chr6:62668000-62669400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:62668200-62669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:62668200-62669400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:62669000-62669200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:62669000-62674000	Weak transcription	Fetal Brain Male	brain
32	chr6:62669200-62673200	Weak transcription	Primary B cells from cord blood	blood
33	chr6:62669200-62690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:62669400-62671400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:62669400-62671600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:62671400-62672200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:62671600-62673600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:62673200-62674000	Strong transcription	Primary B cells from cord blood	blood
39	chr6:62673600-62681200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:62674000-62674600	Enhancers	Fetal Brain Male	brain
41	chr6:62674000-62685000	Weak transcription	Primary B cells from cord blood	blood
42	chr6:62674200-62674800	Enhancers	Fetal Brain Female	brain
43	chr6:62677400-62704600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:62682600-62690800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:62685000-62686000	Enhancers	Brain Substantia Nigra	brain
46	chr6:62685000-62686800	Strong transcription	Primary B cells from cord blood	blood
47	chr6:62686800-62718800	Weak transcription	Primary B cells from cord blood	blood
48	chr6:62690400-62691000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:62690600-62690800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:62690600-62691000	Enhancers	H9 Cell Line	embryonic stem cell

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