Variant report

Variant	nsv525625
Chromosome Location	chr2:77096124-77113949
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	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13398751	chr2:77096124-77096125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544264973	chr2:77096128-77096129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562868727	chr2:77096141-77096142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527694526	chr2:77096147-77096148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577979053	chr2:77096165-77096166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545244047	chr2:77096179-77096180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368298410	chr2:77096190-77096191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376197410	chr2:77096194-77096195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549225637	chr2:77096202-77096203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13385519	chr2:77096203-77096204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531399102	chr2:77096210-77096211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549632905	chr2:77096260-77096261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183234447	chr2:77096282-77096283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538263956	chr2:77096291-77096292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552040817	chr2:77096316-77096317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188108228	chr2:77096317-77096318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140916855	chr2:77096318-77096319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555575991	chr2:77096322-77096323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150187956	chr2:77096368-77096369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538311431	chr2:77096372-77096373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556388828	chr2:77096394-77096395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577930240	chr2:77096410-77096411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545114922	chr2:77096412-77096413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138983387	chr2:77096428-77096429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571779154	chr2:77096437-77096438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113988123	chr2:77096438-77096439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572402589	chr2:77096511-77096512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191739808	chr2:77096527-77096528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561035582	chr2:77096537-77096538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531409633	chr2:77096578-77096579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183310084	chr2:77096592-77096593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188710419	chr2:77096611-77096612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532132203	chr2:77096623-77096624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547019239	chr2:77096625-77096626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566809173	chr2:77096649-77096650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527946510	chr2:77096671-77096672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201015132	chr2:77096681-77096682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549289944	chr2:77096688-77096689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7575858	chr2:77096689-77096690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11322083	chr2:77096704-77096705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571762702	chr2:77096724-77096725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556613417	chr2:77096727-77096728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571676442	chr2:77096757-77096758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142238754	chr2:77096857-77096858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554170961	chr2:77096870-77096871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539241852	chr2:77096885-77096886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572492223	chr2:77096906-77096907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542896409	chr2:77096930-77096931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7602571	chr2:77096957-77096958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373194832	chr2:77096968-77096969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77094400-77098400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:77094600-77096400	Enhancers	HUVEC	blood vessel
3	chr2:77095400-77097600	Weak transcription	NH-A	brain
4	chr2:77096400-77096800	Weak transcription	HUVEC	blood vessel
5	chr2:77096800-77098200	Enhancers	HUVEC	blood vessel
6	chr2:77097000-77097400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:77097200-77097600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:77097200-77097600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:77097200-77098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:77097200-77098400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:77097600-77098000	Enhancers	NH-A	brain
12	chr2:77097600-77098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:77099000-77099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:77099000-77099200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:77110200-77110400	Enhancers	Pancreas	Pancrea
16	chr2:77112400-77113000	Active TSS	HUES6 Cell Line	embryonic stem cell

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