Variant report

Variant	nsv963874
Chromosome Location	chr2:53132199-53140908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:53137866-53138008	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFYA	chr2:53138258-53138441	GM12878	blood:	n/a	n/a
3	NR2F2	chr2:53131739-53132236	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:53137929-53137963	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:53139526-53139595	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr2:53137672-53137871	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr2:53132666-53132849	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53132852..53133808-chr20:52198265..52198765,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB3-1	chr2:53137102-53137158	ENSG00000228033
2	lnc-ASB3-1	chr2:53137102-53137158	ENSG00000228033

Variant related genes	Relation type
ENSG00000228033	TF binding region

Extended variants
information (count: 457 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367829588	chr2:53132221-53132222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183713487	chr2:53132254-53132255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79220149	chr2:53132262-53132263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561839385	chr2:53132263-53132264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148017531	chr2:53132268-53132269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369278576	chr2:53132269-53132270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58012888	chr2:53132294-53132295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540136859	chr2:53132305-53132306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575375393	chr2:53132314-53132315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546847096	chr2:53132358-53132359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544115698	chr2:53132368-53132369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564597405	chr2:53132407-53132408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185522971	chr2:53132412-53132413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17571144	chr2:53132416-53132417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537152065	chr2:53132439-53132440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17043766	chr2:53132485-53132486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374202073	chr2:53132489-53132490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190436561	chr2:53132512-53132513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569476845	chr2:53132523-53132524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538419032	chr2:53132531-53132532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551728053	chr2:53132538-53132539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182258846	chr2:53132539-53132540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539159352	chr2:53132543-53132544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577162102	chr2:53132631-53132632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186921902	chr2:53132640-53132641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554737322	chr2:53132650-53132651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545830010	chr2:53132708-53132709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367811803	chr2:53132718-53132719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372670964	chr2:53132720-53132721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575493585	chr2:53132728-53132729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570708978	chr2:53132768-53132769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540363344	chr2:53132792-53132793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553227606	chr2:53132818-53132819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578015654	chr2:53132928-53132929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193231460	chr2:53132950-53132951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540346492	chr2:53132958-53132959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17043770	chr2:53132960-53132961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537088233	chr2:53132977-53132978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529225982	chr2:53133004-53133005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542645632	chr2:53133012-53133013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55848819	chr2:53133014-53133015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372254778	chr2:53133027-53133028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556997726	chr2:53133089-53133090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147259062	chr2:53133105-53133106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551901941	chr2:53133117-53133118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571754925	chr2:53133131-53133132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114655230	chr2:53133158-53133159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546697638	chr2:53133190-53133191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17043772	chr2:53133224-53133225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs535436178	chr2:53133225-53133226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53109400-53145600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53131400-53132400	Enhancers	Hela-S3	cervix

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