Variant report

Variant	nsv1022864
Chromosome Location	chr6:63859536-63895350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 856 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541793558	chr6:63859554-63859555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563261469	chr6:63859557-63859558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190028958	chr6:63859582-63859583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182259079	chr6:63859627-63859628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187928257	chr6:63859657-63859658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192356872	chr6:63859696-63859697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377005553	chr6:63859706-63859707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559551838	chr6:63859745-63859746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530382274	chr6:63859795-63859796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544068786	chr6:63859838-63859839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112555597	chr6:63859839-63859840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77823226	chr6:63859863-63859864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115695367	chr6:63859878-63859879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183518334	chr6:63859897-63859898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139233642	chr6:63859932-63859933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568826807	chr6:63859979-63859980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570954905	chr6:63860020-63860021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535150055	chr6:63860027-63860028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553189664	chr6:63860053-63860054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72884734	chr6:63860099-63860100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535714816	chr6:63860100-63860101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556980406	chr6:63860130-63860131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575138754	chr6:63860194-63860195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545389097	chr6:63860263-63860264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563764730	chr6:63860287-63860288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188515486	chr6:63860298-63860299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192867722	chr6:63860315-63860316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143247292	chr6:63860352-63860353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559867503	chr6:63860354-63860355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147477316	chr6:63860377-63860378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370201203	chr6:63860399-63860400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184988924	chr6:63860424-63860425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61014001	chr6:63860451-63860452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548822173	chr6:63860487-63860488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544214049	chr6:63860510-63860511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563818454	chr6:63860544-63860545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531284481	chr6:63860574-63860575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114496737	chr6:63860729-63860730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570893716	chr6:63860735-63860736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189565444	chr6:63860761-63860762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547735486	chr6:63860777-63860778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73444866	chr6:63860803-63860804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113178285	chr6:63860813-63860814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557163957	chr6:63860817-63860818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191450308	chr6:63860887-63860888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539379024	chr6:63860953-63860954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183493961	chr6:63860955-63860956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73760037	chr6:63860981-63860982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539892463	chr6:63860996-63860997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561636945	chr6:63861037-63861038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63858800-63860200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63859000-63860800	Enhancers	Fetal Intestine Small	intestine
3	chr6:63859000-63861000	Enhancers	Fetal Intestine Large	intestine
4	chr6:63859600-63859800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:63859800-63877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:63875200-63875600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63877000-63877200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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