Variant report

Variant	nsv517736
Chromosome Location	chr6:58304900-58308955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1322444	chr6:58304900-58304901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184707580	chr6:58304909-58304910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187974540	chr6:58304965-58304966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72882913	chr6:58304996-58304997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538146757	chr6:58305012-58305013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62464099	chr6:58305050-58305051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs539794994	chr6:58305124-58305125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192997566	chr6:58305142-58305143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183544817	chr6:58305202-58305203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562615703	chr6:58305203-58305204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188232834	chr6:58305224-58305225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534322415	chr6:58305260-58305261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552876471	chr6:58305280-58305281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574616402	chr6:58305314-58305315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112066039	chr6:58305328-58305329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574501518	chr6:58305347-58305348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548643134	chr6:58305360-58305361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199955275	chr6:58305379-58305380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150329128	chr6:58305388-58305389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535384138	chr6:58305393-58305394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148936854	chr6:58305394-58305395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143709356	chr6:58305453-58305454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545361726	chr6:58305480-58305481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369829118	chr6:58305485-58305486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557356723	chr6:58305555-58305556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373487125	chr6:58305560-58305561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572827165	chr6:58305651-58305652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540354844	chr6:58305679-58305680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562130719	chr6:58305680-58305681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181763536	chr6:58305723-58305724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545938599	chr6:58305786-58305787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79737774	chr6:58305789-58305790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28485025	chr6:58305812-58305813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199923763	chr6:58305831-58305832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34524846	chr6:58305832-58305833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200859098	chr6:58305833-58305834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112886348	chr6:58305835-58305836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111831598	chr6:58305836-58305837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544821844	chr6:58305841-58305842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201697979	chr6:58305865-58305866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577434671	chr6:58305882-58305883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115419190	chr6:58305892-58305893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551771580	chr6:58305981-58305982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184732421	chr6:58305993-58305994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531664767	chr6:58306083-58306084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527774714	chr6:58306107-58306108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190053723	chr6:58306185-58306186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181713145	chr6:58306188-58306189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551400597	chr6:58306193-58306194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556755850	chr6:58306195-58306196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58293000-58309600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:58301200-58310800	Weak transcription	Ovary	ovary
3	chr6:58303200-58309000	Weak transcription	HSMM	muscle
4	chr6:58307400-58307600	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:58307600-58307800	Enhancers	HSMMtube	muscle
6	chr6:58307600-58308400	Enhancers	Fetal Muscle Leg	muscle
7	chr6:58307800-58309600	Weak transcription	HSMMtube	muscle
8	chr6:58308400-58310400	Weak transcription	Fetal Muscle Leg	muscle

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