Variant report

Variant	nsv982975
Chromosome Location	chr11:4470814-4471314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146429000	chr11:4470818-4470819	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367958087	chr11:4470832-4470833	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184386220	chr11:4470835-4470836	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369849936	chr11:4470851-4470852	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373020337	chr11:4470857-4470858	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111665527	chr11:4470871-4470872	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371898703	chr11:4470873-4470874	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140870837	chr11:4470878-4470879	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143072224	chr11:4470884-4470885	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374031837	chr11:4470909-4470910	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148228221	chr11:4470925-4470926	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373635326	chr11:4470928-4470929	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370424767	chr11:4470938-4470939	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11032296	chr11:4470939-4470940	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150256167	chr11:4470940-4470941	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201979580	chr11:4470949-4470950	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61747517	chr11:4470950-4470951	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143320844	chr11:4470974-4470975	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147450058	chr11:4470976-4470977	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185070275	chr11:4470979-4470980	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138279811	chr11:4470990-4470991	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143862015	chr11:4471026-4471027	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144284162	chr11:4471027-4471028	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560214084	chr11:4471029-4471030	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372201775	chr11:4471033-4471034	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527552227	chr11:4471063-4471064	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200993665	chr11:4471064-4471065	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201648447	chr11:4471068-4471069	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200025367	chr11:4471070-4471071	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148754230	chr11:4471076-4471077	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142144083	chr11:4471083-4471084	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375297281	chr11:4471097-4471098	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150771960	chr11:4471139-4471140	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142527954	chr11:4471142-4471143	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144156845	chr11:4471146-4471147	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146528747	chr11:4471148-4471149	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376180726	chr11:4471162-4471163	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569235087	chr11:4471175-4471176	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140780188	chr11:4471176-4471177	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115463883	chr11:4471184-4471185	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369240508	chr11:4471197-4471198	Genic enhancers Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373142490	chr11:4471227-4471228	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201538033	chr11:4471233-4471234	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374918725	chr11:4471242-4471243	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553718724	chr11:4471243-4471244	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200391910	chr11:4471246-4471247	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199505340	chr11:4471247-4471248	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201480162	chr11:4471249-4471250	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551457693	chr11:4471253-4471254	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184725438	chr11:4471255-4471256	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Autism	22495311	CNVD
Lung cancer	18438408	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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4465400-4471000	Weak transcription	Spleen	Spleen
2	chr11:4469600-4471200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:4470600-4471600	Genic enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:4470800-4471200	Genic enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:4470800-4480800	Weak transcription	Ovary	ovary
6	chr11:4471000-4471400	Active TSS	Brain Substantia Nigra	brain
7	chr11:4471000-4471400	Enhancers	Spleen	Spleen
8	chr11:4471200-4472000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:4471200-4473800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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