Variant report

Variant	nsv963754
Chromosome Location	chr2:186816602-186821759
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	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
2	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427

Extended variants
information (count: 192 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577736952	chr2:186816603-186816604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10804000	chr2:186816607-186816608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528761556	chr2:186816662-186816663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76950942	chr2:186816672-186816673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184942912	chr2:186816716-186816717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531080795	chr2:186816725-186816726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78332863	chr2:186816751-186816752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563946592	chr2:186816754-186816755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35692188	chr2:186816764-186816765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546573210	chr2:186816770-186816771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562050610	chr2:186816784-186816785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143072783	chr2:186816785-186816786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528863954	chr2:186816801-186816802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189835572	chr2:186816826-186816827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34713864	chr2:186816853-186816854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539548566	chr2:186816862-186816863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574489078	chr2:186816890-186816891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146639008	chr2:186816903-186816904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114550627	chr2:186816950-186816951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567068767	chr2:186816969-186816970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534446239	chr2:186817018-186817019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151177451	chr2:186817020-186817021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202144244	chr2:186817041-186817042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142234533	chr2:186817043-186817044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1872833	chr2:186817046-186817047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537822370	chr2:186817131-186817132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1872832	chr2:186817136-186817137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1872831	chr2:186817171-186817172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374887666	chr2:186817230-186817231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2370509	chr2:186817244-186817245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2887772	chr2:186817246-186817247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2887773	chr2:186817247-186817248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2887774	chr2:186817248-186817249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2887775	chr2:186817249-186817250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2887776	chr2:186817250-186817251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2887777	chr2:186817251-186817252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2887778	chr2:186817252-186817253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2887779	chr2:186817253-186817254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3058619	chr2:186817274-186817275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368932736	chr2:186817275-186817276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140381981	chr2:186817276-186817277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397775826	chr2:186817286-186817287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151225095	chr2:186817287-186817288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs68102157	chr2:186817288-186817289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4438448	chr2:186817321-186817322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575800962	chr2:186817342-186817343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373349317	chr2:186817347-186817348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184363512	chr2:186817350-186817351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188804381	chr2:186817351-186817352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3058622	chr2:186817356-186817357	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
Intellectual disability	22102821	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
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186809800-186816800	Weak transcription	Fetal Intestine Large	intestine
2	chr2:186810200-186828000	Weak transcription	Ovary	ovary
3	chr2:186815000-186827800	Weak transcription	Aorta	Aorta
4	chr2:186815600-186833800	Weak transcription	Left Ventricle	heart
5	chr2:186816600-186817000	Enhancers	Hela-S3	cervix
6	chr2:186821000-186821800	Enhancers	Fetal Brain Male	brain

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