Variant report

Variant	esv3423473
Chromosome Location	chr2:31709809-31710886
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	chr2:31705373..31707230-chr2:31710852..31712449,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76703210	chr2:31709822-31709823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568478670	chr2:31709864-31709865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537468690	chr2:31709865-31709866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545405687	chr2:31709873-31709874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144498167	chr2:31709925-31709926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563693132	chr2:31709938-31709939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192801704	chr2:31709973-31709974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539987008	chr2:31709976-31709977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554392803	chr2:31710040-31710041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574231376	chr2:31710043-31710044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536988699	chr2:31710052-31710053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572502839	chr2:31710073-31710074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182736055	chr2:31710169-31710170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576479824	chr2:31710226-31710227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375958945	chr2:31710267-31710268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576505960	chr2:31710274-31710275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565340785	chr2:31710277-31710278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572546338	chr2:31710281-31710282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540028874	chr2:31710310-31710311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187367861	chr2:31710325-31710326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529091871	chr2:31710338-31710339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540962026	chr2:31710379-31710380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147863195	chr2:31710397-31710398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531168617	chr2:31710401-31710402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551002511	chr2:31710403-31710404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562232661	chr2:31710483-31710484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540770909	chr2:31710500-31710501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201560913	chr2:31710562-31710563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533915480	chr2:31710569-31710570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192371848	chr2:31710577-31710578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146302832	chr2:31710590-31710591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567814067	chr2:31710637-31710638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184753829	chr2:31710686-31710687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556851213	chr2:31710742-31710743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6752832	chr2:31710784-31710785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539029295	chr2:31710824-31710825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113848211	chr2:31710838-31710839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140483804	chr2:31710850-31710851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574333502	chr2:31710856-31710857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150433561	chr2:31710881-31710882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31701000-31712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:31705200-31712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:31706200-31710600	Weak transcription	NHDF-Ad	bronchial
4	chr2:31707600-31712000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:31707600-31712200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:31710600-31711000	Enhancers	NHDF-Ad	bronchial

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