Variant report

Variant	nsv962093
Chromosome Location	chr2:188804522-188808829
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	chr2:188801309..188802880-chr2:188806154..188808461,2	K562	blood:
2	chr2:188806590..188808370-chr2:188808844..188811807,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16829392	chr2:188804531-188804532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575243453	chr2:188804537-188804538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6721415	chr2:188804632-188804633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573038144	chr2:188804657-188804658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115680938	chr2:188804658-188804659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17327157	chr2:188804659-188804660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540857839	chr2:188804712-188804713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562345643	chr2:188804737-188804738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574358259	chr2:188804747-188804748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544935257	chr2:188804763-188804764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574734654	chr2:188804781-188804782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6724400	chr2:188804789-188804790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549426418	chr2:188807256-188807257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186992081	chr2:188807265-188807266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368627461	chr2:188807272-188807273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376226040	chr2:188807283-188807284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538096958	chr2:188807300-188807301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149080347	chr2:188807307-188807308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371547320	chr2:188807308-188807309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192325070	chr2:188807315-188807316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571809416	chr2:188807399-188807400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538905252	chr2:188807404-188807405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4145365	chr2:188807418-188807419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183385128	chr2:188807543-188807544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76349339	chr2:188807600-188807601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554108195	chr2:188807617-188807618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149735128	chr2:188807631-188807632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537100604	chr2:188807639-188807640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542630681	chr2:188807683-188807684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558413430	chr2:188807759-188807760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576959077	chr2:188807775-188807776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376941475	chr2:188807812-188807813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75049632	chr2:188807819-188807820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553281408	chr2:188807821-188807822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563428673	chr2:188807831-188807832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574755862	chr2:188807845-188807846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77286183	chr2:188807857-188807858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572157777	chr2:188807886-188807887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187091895	chr2:188807945-188807946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543889701	chr2:188808054-188808055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78030608	chr2:188808059-188808060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77855231	chr2:188808061-188808062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547648991	chr2:188808112-188808113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202131280	chr2:188808121-188808122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554622708	chr2:188808130-188808131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565950953	chr2:188808151-188808152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530287597	chr2:188808176-188808177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548474233	chr2:188808195-188808196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77178111	chr2:188808229-188808230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190188711	chr2:188808255-188808256	Weak transcription Enhancers	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188803800-188804800	Enhancers	Ovary	ovary
2	chr2:188807200-188808200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:188807400-188808400	Enhancers	NHDF-Ad	bronchial
4	chr2:188807800-188812400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:188808200-188810800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links