Variant report

Variant	nsv519231
Chromosome Location	chr2:188491863-188500930
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	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1356868	chr2:188491863-188491864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548964826	chr2:188491885-188491886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545864376	chr2:188491927-188491928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376442516	chr2:188491939-188491940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183064531	chr2:188492028-188492029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143449908	chr2:188492059-188492060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547319157	chr2:188492063-188492064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13402156	chr2:188492069-188492070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565811759	chr2:188492094-188492095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560903643	chr2:188492153-188492154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115155746	chr2:188492194-188492195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186260442	chr2:188495400-188495401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571318717	chr2:188495502-188495503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115776497	chr2:188495504-188495505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190476919	chr2:188495516-188495517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs6725095	chr2:188495540-188495541	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576519943	chr2:188495567-188495568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183588402	chr2:188495575-188495576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574644881	chr2:188495578-188495579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565332289	chr2:188495598-188495599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543353806	chr2:188495671-188495672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113798796	chr2:188495710-188495711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186445577	chr2:188495718-188495719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191293737	chr2:188495721-188495722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549202931	chr2:188495727-188495728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560937935	chr2:188495789-188495790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531490108	chr2:188495815-188495816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549483554	chr2:188495882-188495883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77248350	chr2:188495895-188495896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570973815	chr2:188495925-188495926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538279674	chr2:188495947-188495948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35838485	chr2:188495948-188495949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4319901	chr2:188495966-188495967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542440401	chr2:188500241-188500242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111653714	chr2:188500342-188500343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148101501	chr2:188500352-188500353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114354371	chr2:188500373-188500374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141903381	chr2:188500379-188500380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375292505	chr2:188500401-188500402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114771503	chr2:188500402-188500403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115326896	chr2:188500416-188500417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528000446	chr2:188500421-188500422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7371612	chr2:188500596-188500597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545118122	chr2:188500667-188500668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560348134	chr2:188500691-188500692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527716799	chr2:188500692-188500693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549083620	chr2:188500737-188500738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150184365	chr2:188500740-188500741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200843515	chr2:188500773-188500774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113789764	chr2:188500781-188500782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188490600-188492200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:188491000-188492000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:188492000-188492200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:188495400-188495600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr2:188495600-188496000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:188500200-188519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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