Variant report

Variant	esv2516525
Chromosome Location	chr3:94153994-94155338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181720085	chr3:94154008-94154009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551719301	chr3:94154163-94154164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368389664	chr3:94154223-94154224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571579525	chr3:94154324-94154325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372630564	chr3:94154338-94154339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184944464	chr3:94154406-94154407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77299464	chr3:94154426-94154427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537733592	chr3:94154436-94154437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188541481	chr3:94154446-94154447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551751923	chr3:94154516-94154517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77325772	chr3:94154596-94154597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549047254	chr3:94154623-94154624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35747236	chr3:94154680-94154681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181045421	chr3:94154681-94154682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58390249	chr3:94154708-94154709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371475580	chr3:94154709-94154710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375492823	chr3:94154735-94154736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368850086	chr3:94154747-94154748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145582714	chr3:94154764-94154765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572134765	chr3:94154858-94154859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62265508	chr3:94154863-94154864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34529017	chr3:94154921-94154922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557715756	chr3:94154957-94154958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577604100	chr3:94154963-94154964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543693867	chr3:94154966-94154967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563291859	chr3:94154988-94154989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374792239	chr3:94155000-94155001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546638972	chr3:94155110-94155111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542375172	chr3:94155115-94155116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559138263	chr3:94155132-94155133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185126881	chr3:94155138-94155139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148870694	chr3:94155181-94155182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565271318	chr3:94155207-94155208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144174666	chr3:94155225-94155226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146514531	chr3:94155226-94155227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568183218	chr3:94155229-94155230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140812697	chr3:94155275-94155276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536958656	chr3:94155289-94155290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189581925	chr3:94155290-94155291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94153400-94158800	Weak transcription	HUVEC	blood vessel

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