Variant report

Variant	esv3457165
Chromosome Location	chr2:189118732-189122080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
2	chr2:189111332..189114158-chr2:189116062..189118762,3	K562	blood:
3	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
4	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:
5	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565600622	chr2:189118735-189118736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11902539	chr2:189118742-189118743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144709130	chr2:189118745-189118746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567764118	chr2:189118759-189118760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72903543	chr2:189118763-189118764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116398354	chr2:189118778-189118779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578143475	chr2:189118784-189118785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545573270	chr2:189118786-189118787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75326124	chr2:189118834-189118835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572728496	chr2:189118846-189118847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542663633	chr2:189119062-189119063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560830322	chr2:189119070-189119071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531317284	chr2:189119071-189119072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182657042	chr2:189119081-189119082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186584422	chr2:189119087-189119088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371269934	chr2:189119101-189119102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564985421	chr2:189119117-189119118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191468201	chr2:189119211-189119212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534195667	chr2:189119224-189119225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375974082	chr2:189119226-189119227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368051701	chr2:189119328-189119329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115408484	chr2:189119401-189119402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183205170	chr2:189119411-189119412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567581758	chr2:189119437-189119438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188904078	chr2:189119443-189119444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556421745	chr2:189119450-189119451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571673132	chr2:189119463-189119464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7577224	chr2:189119479-189119480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112146469	chr2:189119499-189119500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73039983	chr2:189119508-189119509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs80274392	chr2:189119510-189119511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200719836	chr2:189119543-189119544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543375187	chr2:189119556-189119557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374743248	chr2:189119560-189119561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147240738	chr2:189119562-189119563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369487560	chr2:189119581-189119582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543367586	chr2:189119618-189119619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141749539	chr2:189119621-189119622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564834437	chr2:189119632-189119633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201709493	chr2:189119636-189119637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576844008	chr2:189119650-189119651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540844335	chr2:189119656-189119657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559156809	chr2:189119658-189119659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529816660	chr2:189119668-189119669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548124342	chr2:189119740-189119741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562505571	chr2:189119756-189119757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368826514	chr2:189119799-189119800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531616889	chr2:189119823-189119824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550099315	chr2:189119824-189119825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185179022	chr2:189119899-189119900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189100400-189121200	Weak transcription	K562	blood
2	chr2:189116200-189118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart
4	chr2:189121200-189121800	Enhancers	K562	blood
5	chr2:189121400-189121600	Enhancers	Aorta	Aorta
6	chr2:189121600-189128600	Weak transcription	Aorta	Aorta
7	chr2:189121800-189147800	Weak transcription	K562	blood

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