Variant report

Variant	esv3485948
Chromosome Location	chr2:35864752-35868521
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	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:

Extended variants
information (count: 169 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376033153	chr2:35864762-35864763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536868266	chr2:35864772-35864773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7566387	chr2:35864805-35864806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573834138	chr2:35864806-35864807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182715013	chr2:35864860-35864861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553395550	chr2:35864907-35864908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186616117	chr2:35864936-35864937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545470280	chr2:35864949-35864950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191515845	chr2:35864956-35864957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575870360	chr2:35864962-35864963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542873699	chr2:35864982-35864983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561556488	chr2:35865016-35865017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528763929	chr2:35865034-35865035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540970109	chr2:35865058-35865059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558877174	chr2:35865060-35865061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532775970	chr2:35865084-35865085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557465315	chr2:35865132-35865133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551027336	chr2:35865152-35865153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368631081	chr2:35865159-35865160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151079852	chr2:35865189-35865190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530661623	chr2:35865192-35865193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548892064	chr2:35865244-35865245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527620378	chr2:35865303-35865304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12470681	chr2:35865319-35865320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183266521	chr2:35865326-35865327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553305937	chr2:35865338-35865339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571625160	chr2:35865342-35865343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539047745	chr2:35865422-35865423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75458953	chr2:35865425-35865426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575627213	chr2:35865440-35865441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543140929	chr2:35865460-35865461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571167846	chr2:35865485-35865486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7569822	chr2:35865541-35865542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34124708	chr2:35865581-35865582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77218927	chr2:35865585-35865586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138775451	chr2:35865621-35865622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565253840	chr2:35865664-35865665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530848326	chr2:35865667-35865668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188724373	chr2:35865702-35865703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17017143	chr2:35865706-35865707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60565678	chr2:35865755-35865756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141117661	chr2:35865763-35865764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150306712	chr2:35865782-35865783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7582487	chr2:35865784-35865785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185166493	chr2:35865793-35865794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73922629	chr2:35865807-35865808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34360257	chr2:35865848-35865849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139079504	chr2:35865851-35865852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561236993	chr2:35865887-35865888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546878951	chr2:35865889-35865890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35860000-35891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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