Variant report

Variant	nsv961775
Chromosome Location	chr2:52657779-52665204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 413 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75473826	chr2:52657809-52657810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79834929	chr2:52657813-52657814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567573387	chr2:52657828-52657829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547577465	chr2:52657833-52657834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12471751	chr2:52657851-52657852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189779778	chr2:52657853-52657854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550132440	chr2:52657858-52657859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569949227	chr2:52657864-52657865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76182822	chr2:52657921-52657922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199863050	chr2:52658037-52658038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552298150	chr2:52658047-52658048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182992324	chr2:52658055-52658056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73931325	chr2:52658087-52658088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200484883	chr2:52658110-52658111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554723796	chr2:52658118-52658119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374632021	chr2:52658185-52658186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377644788	chr2:52658214-52658215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537341887	chr2:52658220-52658221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188689701	chr2:52658244-52658245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573972035	chr2:52658260-52658261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577469367	chr2:52658308-52658309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374079041	chr2:52658331-52658332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544946555	chr2:52658411-52658412	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs116217193	chr2:52658421-52658422	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572143056	chr2:52658422-52658423	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541155622	chr2:52658424-52658425	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563177581	chr2:52658425-52658426	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576302866	chr2:52658450-52658451	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs55932376	chr2:52658460-52658461	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148999208	chr2:52658463-52658464	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144619138	chr2:52658492-52658493	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552516340	chr2:52658496-52658497	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565768172	chr2:52658530-52658531	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569271603	chr2:52658547-52658548	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138519341	chr2:52658576-52658577	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548317878	chr2:52658581-52658582	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141681219	chr2:52658592-52658593	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537198646	chr2:52658612-52658613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557280171	chr2:52658625-52658626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs13411972	chr2:52658635-52658636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577429894	chr2:52658683-52658684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539764419	chr2:52658711-52658712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558503113	chr2:52658726-52658727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374441167	chr2:52658744-52658745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs12713202	chr2:52658797-52658798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12713203	chr2:52658801-52658802	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74832945	chr2:52658840-52658841	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574595977	chr2:52658845-52658846	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543569539	chr2:52658859-52658860	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563360884	chr2:52658869-52658870	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52655400-52658200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:52655600-52658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:52655600-52659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:52655800-52658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:52655800-52659200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:52656000-52667200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:52656200-52658000	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:52656200-52658000	Enhancers	Hela-S3	cervix
9	chr2:52656800-52658400	Enhancers	Liver	Liver
10	chr2:52657000-52657800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:52657800-52658400	Enhancers	Fetal Intestine Large	intestine
12	chr2:52658200-52658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:52658200-52663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:52658400-52658600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:52658400-52658800	Flanking Active TSS	Liver	Liver
16	chr2:52658600-52659000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:52658600-52667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:52658800-52659000	Active TSS	Liver	Liver
19	chr2:52659000-52659200	Flanking Active TSS	Liver	Liver
20	chr2:52662800-52666000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr2:52663000-52663200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:52664600-52665000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr2:52665000-52668200	Weak transcription	H9 Cell Line	embryonic stem cell

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