Variant report

Variant	nsv518852
Chromosome Location	chr2:49186702-49191590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49186669..49188869-chr2:49189204..49191153,2	K562	blood:
2	chr2:49182201..49184078-chr2:49187654..49190318,2	K562	blood:
3	chr2:49186669..49188869-chr2:49189204..49191153,2	K562	blood:

Extended variants
information (count: 260 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7559066	chr2:49186702-49186703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534058643	chr2:49186705-49186706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549108363	chr2:49186720-49186721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190137307	chr2:49186731-49186732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537861334	chr2:49186736-49186737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368356818	chr2:49186757-49186758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372244397	chr2:49186768-49186769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76533862	chr2:49186776-49186777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539626854	chr2:49186784-49186785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7585723	chr2:49186785-49186786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369239566	chr2:49186807-49186808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114980530	chr2:49186856-49186857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142276584	chr2:49186866-49186867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568720187	chr2:49186879-49186880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376083127	chr2:49186888-49186889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371521482	chr2:49186895-49186896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573532412	chr2:49186911-49186912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543884826	chr2:49186914-49186915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563165206	chr2:49186925-49186926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533481983	chr2:49186938-49186939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377261761	chr2:49186946-49186947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150842313	chr2:49186953-49186954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183073160	chr2:49187005-49187006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188501423	chr2:49187040-49187041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77201894	chr2:49187056-49187057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74365696	chr2:49187057-49187058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374147412	chr2:49187072-49187073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534352303	chr2:49187089-49187090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575680295	chr2:49187093-49187094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76795081	chr2:49187116-49187117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78514092	chr2:49187117-49187118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549940207	chr2:49187118-49187119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569149893	chr2:49187128-49187129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148705347	chr2:49187143-49187144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557973836	chr2:49187148-49187149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77647476	chr2:49187183-49187184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533748567	chr2:49187192-49187193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192910608	chr2:49187199-49187200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573668792	chr2:49187201-49187202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185648775	chr2:49187202-49187203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555916749	chr2:49187207-49187208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372012414	chr2:49187208-49187209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550708343	chr2:49187209-49187210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545337247	chr2:49187210-49187211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6711155	chr2:49187211-49187212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376867977	chr2:49187285-49187286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371508086	chr2:49187316-49187317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373608610	chr2:49187327-49187328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144324942	chr2:49187389-49187390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191189205	chr2:49187391-49187392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49179800-49190000	Weak transcription	Ovary	ovary
2	chr2:49187600-49188600	Enhancers	Stomach Smooth Muscle	stomach
3	chr2:49187600-49189000	Enhancers	Adipose Nuclei	Adipose
4	chr2:49188200-49189200	Enhancers	Colon Smooth Muscle	Colon
5	chr2:49188600-49188800	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr2:49188800-49189000	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:49190000-49190600	Strong transcription	Ovary	ovary
8	chr2:49190600-49200400	Weak transcription	Ovary	ovary

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