Variant report

Variant	nsv963231
Chromosome Location	chr2:53777321-53780293
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	chr2:53771758..53774525-chr2:53776196..53777860,2	MCF-7	breast:
2	chr2:53774246..53775776-chr2:53777337..53778910,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531866435	chr2:53777366-53777367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs137912119	chr2:53777417-53777418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142467445	chr2:53777438-53777439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79376000	chr2:53777441-53777442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536385745	chr2:53777505-53777506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555137120	chr2:53777537-53777538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75221352	chr2:53777541-53777542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144578072	chr2:53777585-53777586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377198982	chr2:53777596-53777597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34507520	chr2:53777599-53777600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555856772	chr2:53777673-53777674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148199494	chr2:53777684-53777685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192790982	chr2:53777723-53777724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184383998	chr2:53777724-53777725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368076854	chr2:53777752-53777753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576060163	chr2:53777785-53777786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528980573	chr2:53777809-53777810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34787576	chr2:53777814-53777815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188868462	chr2:53777839-53777840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116337835	chr2:53777885-53777886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193120252	chr2:53777913-53777914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533874641	chr2:53777914-53777915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367825270	chr2:53777915-53777916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552072805	chr2:53777937-53777938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115700868	chr2:53777979-53777980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528007258	chr2:53777997-53777998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75330615	chr2:53778057-53778058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567596501	chr2:53778059-53778060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141168825	chr2:53778066-53778067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184223141	chr2:53778073-53778074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568686215	chr2:53778075-53778076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189076750	chr2:53778116-53778117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1357203	chr2:53778143-53778144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577861193	chr2:53778181-53778182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533889231	chr2:53778229-53778230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57060177	chr2:53778230-53778231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545994591	chr2:53778257-53778258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200550644	chr2:53778272-53778273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72533952	chr2:53778273-53778274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34227023	chr2:53778274-53778275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114080014	chr2:53778285-53778286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150795423	chr2:53778297-53778298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201409783	chr2:53778383-53778384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576231368	chr2:53778415-53778416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561121943	chr2:53778420-53778421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545601113	chr2:53778458-53778459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117861606	chr2:53778468-53778469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544232050	chr2:53778525-53778526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527981020	chr2:53778533-53778534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564671350	chr2:53778552-53778553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53771400-53778000	Enhancers	Fetal Brain Male	brain
2	chr2:53776200-53777600	Enhancers	Fetal Heart	heart
3	chr2:53777000-53780800	Weak transcription	Left Ventricle	heart
4	chr2:53780200-53780400	Weak transcription	Brain Inferior Temporal Lobe	brain

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