Variant report

Variant	nsv963969
Chromosome Location	chr2:188490802-188498531
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: 61 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559113342	chr2:188490826-188490827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529856092	chr2:188490857-188490858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541564720	chr2:188490877-188490878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563371595	chr2:188490976-188490977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143397575	chr2:188490986-188490987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75586948	chr2:188490989-188490990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181036128	chr2:188491003-188491004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552188931	chr2:188491010-188491011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544293422	chr2:188491043-188491044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571191833	chr2:188491045-188491046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528789849	chr2:188491099-188491100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111698919	chr2:188491247-188491248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187336495	chr2:188491274-188491275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13399056	chr2:188491341-188491342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557196264	chr2:188491407-188491408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77596063	chr2:188491430-188491431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13398991	chr2:188491460-188491461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557708281	chr2:188491464-188491465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563585944	chr2:188491549-188491550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191009705	chr2:188491602-188491603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13427040	chr2:188491636-188491637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552803689	chr2:188491653-188491654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183367280	chr2:188491710-188491711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185736527	chr2:188491758-188491759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538679517	chr2:188491786-188491787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367916381	chr2:188491788-188491789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190530523	chr2:188491800-188491801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558683655	chr2:188491833-188491834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1356868	chr2:188491863-188491864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs548964826	chr2:188491885-188491886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545864376	chr2:188491927-188491928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376442516	chr2:188491939-188491940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183064531	chr2:188492028-188492029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143449908	chr2:188492059-188492060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547319157	chr2:188492063-188492064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13402156	chr2:188492069-188492070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565811759	chr2:188492094-188492095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560903643	chr2:188492153-188492154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115155746	chr2:188492194-188492195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186260442	chr2:188495400-188495401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571318717	chr2:188495502-188495503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115776497	chr2:188495504-188495505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190476919	chr2:188495516-188495517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs6725095	chr2:188495540-188495541	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576519943	chr2:188495567-188495568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183588402	chr2:188495575-188495576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574644881	chr2:188495578-188495579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565332289	chr2:188495598-188495599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543353806	chr2:188495671-188495672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113798796	chr2:188495710-188495711	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188489800-188491200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:188490400-188491200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:188490600-188491000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:188490600-188491000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:188490600-188491000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:188490600-188491400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:188490600-188491400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:188490600-188492200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:188490800-188491000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:188490800-188491200	Enhancers	Adipose Nuclei	Adipose
11	chr2:188491000-188492000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:188492000-188492200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:188495400-188495600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr2:188495600-188496000	Weak transcription	H9 Cell Line	embryonic stem cell

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