Variant report

Variant	nsv591819
Chromosome Location	chr3:133134034-133137284
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	chr3:133130542..133132514-chr3:133135726..133138397,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12636179	chr3:133134034-133134035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28595648	chr3:133134073-133134074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566163019	chr3:133134081-133134082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111162459	chr3:133134104-133134105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569102753	chr3:133134105-133134106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386666047	chr3:133134109-133134110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115870015	chr3:133134134-133134135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188266342	chr3:133134154-133134155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200209693	chr3:133134158-133134159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114019916	chr3:133134165-133134166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538124642	chr3:133134181-133134182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558052017	chr3:133134182-133134183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577893329	chr3:133134185-133134186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111161458	chr3:133134192-133134193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111161459	chr3:133134195-133134196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375805065	chr3:133134207-133134208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201077352	chr3:133134275-133134276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111162461	chr3:133134281-133134282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115804109	chr3:133134326-133134327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373216817	chr3:133134339-133134340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542739491	chr3:133134372-133134373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375354023	chr3:133134379-133134380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367905819	chr3:133134382-133134383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371453497	chr3:133134386-133134387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571145122	chr3:133134394-133134395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116291837	chr3:133134416-133134417	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115483161	chr3:133134417-133134418	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140682761	chr3:133134433-133134434	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143239357	chr3:133134436-133134437	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146523098	chr3:133134440-133134441	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545218245	chr3:133134461-133134462	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201538353	chr3:133134521-133134522	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs377633817	chr3:133134538-133134539	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376368804	chr3:133134540-133134541	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79939575	chr3:133134546-133134547	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144638441	chr3:133134548-133134549	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75285052	chr3:133134551-133134552	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192202664	chr3:133134555-133134556	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs80134846	chr3:133134569-133134570	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79094702	chr3:133134571-133134572	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77278442	chr3:133134574-133134575	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs80328789	chr3:133134577-133134578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74332586	chr3:133134578-133134579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79855501	chr3:133134600-133134601	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs77608379	chr3:133134603-133134604	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77649588	chr3:133134622-133134623	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75238736	chr3:133134623-133134624	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74852183	chr3:133134626-133134627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76693247	chr3:133134631-133134632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2699875	chr3:133134633-133134634	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133124600-133138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:133133000-133140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:133134400-133135200	Active TSS	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links