Variant report

Variant	nsv822261
Chromosome Location	chr3:133138031-133140741
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:
2	chr3:133112630..133114708-chr3:133139610..133142045,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12489349	chr3:133138036-133138037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12489328	chr3:133138112-133138113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183746678	chr3:133138135-133138136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187837290	chr3:133138148-133138149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375215544	chr3:133138160-133138161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145484874	chr3:133138162-133138163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148821449	chr3:133138167-133138168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562048734	chr3:133138195-133138196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575675697	chr3:133138255-133138256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575643688	chr3:133138298-133138299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191606765	chr3:133138303-133138304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184090099	chr3:133138311-133138312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12492831	chr3:133138339-133138340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564441144	chr3:133138348-133138349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560763163	chr3:133138350-133138351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117540821	chr3:133138384-133138385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73863532	chr3:133138480-133138481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569213811	chr3:133138523-133138524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369783847	chr3:133138524-133138525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376035908	chr3:133138527-133138528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77641780	chr3:133138546-133138547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550568536	chr3:133138548-133138549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12489467	chr3:133138552-133138553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570439137	chr3:133138569-133138570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539548238	chr3:133138604-133138605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552888857	chr3:133138678-133138679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566713748	chr3:133138702-133138703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368941069	chr3:133138726-133138727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535655726	chr3:133138732-133138733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34673573	chr3:133138766-133138767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575630723	chr3:133138775-133138776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554891623	chr3:133138788-133138789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558165550	chr3:133138789-133138790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578016045	chr3:133138854-133138855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560225208	chr3:133138871-133138872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62280908	chr3:133138978-133138979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143516009	chr3:133138980-133138981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562810506	chr3:133138994-133138995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114818139	chr3:133139010-133139011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1197482	chr3:133139023-133139024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550285664	chr3:133139025-133139026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570474840	chr3:133139054-133139055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115002079	chr3:133139083-133139084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546634852	chr3:133139130-133139131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566574806	chr3:133139158-133139159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535616651	chr3:133139203-133139204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370777076	chr3:133139233-133139234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186636877	chr3:133139253-133139254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571933473	chr3:133139292-133139293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569155830	chr3:133139321-133139322	Weak transcription Enhancers	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:5 , 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	chr3:133138400-133140600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:133138600-133140600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:133139400-133139800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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