Variant report

Variant	esv2763292
Chromosome Location	chr3:111120319-111131539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs2646991	chr3:111120319-111120320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571581563	chr3:111120320-111120321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112707411	chr3:111120327-111120328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547616751	chr3:111120345-111120346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2646992	chr3:111120382-111120383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4682263	chr3:111120453-111120454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533050754	chr3:111120471-111120472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189721582	chr3:111120484-111120485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146528408	chr3:111120606-111120607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76427648	chr3:111120654-111120655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182178445	chr3:111120681-111120682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558520723	chr3:111120692-111120693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371774778	chr3:111120763-111120764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571985451	chr3:111120782-111120783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377253793	chr3:111120808-111120809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369209133	chr3:111120864-111120865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568961478	chr3:111120881-111120882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78167770	chr3:111120939-111120940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139445192	chr3:111120959-111120960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574254792	chr3:111120982-111120983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149672541	chr3:111120987-111120988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563111357	chr3:111120993-111120994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532023404	chr3:111121026-111121027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187706817	chr3:111121050-111121051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564805810	chr3:111121051-111121052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76585431	chr3:111121086-111121087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543954773	chr3:111121089-111121090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527695760	chr3:111121125-111121126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547823543	chr3:111121172-111121173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193241164	chr3:111121291-111121292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533779796	chr3:111121302-111121303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3082196	chr3:111121303-111121304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386397618	chr3:111121305-111121306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567443726	chr3:111121347-111121348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536007541	chr3:111121356-111121357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549542453	chr3:111121360-111121361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185730935	chr3:111121361-111121362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188473452	chr3:111121379-111121380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148852845	chr3:111121386-111121387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146967622	chr3:111121389-111121390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192921702	chr3:111121399-111121400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374885366	chr3:111121547-111121548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200514811	chr3:111121565-111121566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575588515	chr3:111121566-111121567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9838097	chr3:111121572-111121573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62274005	chr3:111121651-111121652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183853395	chr3:111121745-111121746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188628194	chr3:111121755-111121756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557103325	chr3:111121757-111121758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146899378	chr3:111121792-111121793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111119200-111124000	Weak transcription	Aorta	Aorta
2	chr3:111120600-111121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:111124000-111124800	ZNF genes & repeats	Aorta	Aorta

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