Variant report

Variant	nsv521245
Chromosome Location	chr11:4689742-4692979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4688697..4691190-chr11:4691672..4693874,2	K562	blood:
2	chr11:4688697..4691190-chr11:4691672..4693874,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR51E1-1	chr11:4690901-4691087	XLOC_009038

Extended variants
information (count: 162 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs10836441	chr11:4689742-4689743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148364250	chr11:4689752-4689753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537982562	chr11:4689774-4689775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77928593	chr11:4689780-4689781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189137811	chr11:4689781-4689782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544966742	chr11:4689824-4689825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11033264	chr11:4689866-4689867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74963290	chr11:4689874-4689875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565618449	chr11:4689890-4689891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143022188	chr11:4689909-4689910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542808782	chr11:4689928-4689929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192526188	chr11:4689947-4689948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184245794	chr11:4689969-4689970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544736255	chr11:4689970-4689971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562728150	chr11:4690030-4690031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147447717	chr11:4690037-4690038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571936188	chr11:4690078-4690079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188861084	chr11:4690097-4690098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566798917	chr11:4690104-4690105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79902743	chr11:4690110-4690111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181869024	chr11:4690143-4690144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567549463	chr11:4690146-4690147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560774111	chr11:4690195-4690196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369339335	chr11:4690234-4690235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537542643	chr11:4690261-4690262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561730963	chr11:4690289-4690290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76764625	chr11:4690313-4690314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35585655	chr11:4690314-4690315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61885984	chr11:4690316-4690317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529755289	chr11:4690317-4690318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186511345	chr11:4690341-4690342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368880423	chr11:4690357-4690358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189782986	chr11:4690365-4690366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560436733	chr11:4690371-4690372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374292813	chr11:4690381-4690382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553817772	chr11:4690396-4690397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572354709	chr11:4690418-4690419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57552183	chr11:4690431-4690432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180684161	chr11:4690436-4690437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549499813	chr11:4690442-4690443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185356627	chr11:4690443-4690444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537431039	chr11:4690444-4690445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112986264	chr11:4690445-4690446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190891922	chr11:4690497-4690498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183463834	chr11:4690516-4690517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562950845	chr11:4690547-4690548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578048452	chr11:4690586-4690587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544969869	chr11:4690593-4690594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560152387	chr11:4690624-4690625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552181355	chr11:4690665-4690666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4685200-4693000	Weak transcription	Fetal Heart	heart
2	chr11:4692200-4692400	Enhancers	NHLF	lung
3	chr11:4692200-4693200	Enhancers	Ovary	ovary
4	chr11:4692400-4694000	Weak transcription	NHLF	lung
5	chr11:4692400-4694400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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