Variant report

Variant	esv19479
Chromosome Location	chr4:21137385-21138371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28755915	chr4:21137423-21137424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141666434	chr4:21137452-21137453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28713553	chr4:21137479-21137480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575645842	chr4:21137523-21137524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553988370	chr4:21137538-21137539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10025289	chr4:21137566-21137567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72361064	chr4:21137589-21137590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs57283500	chr4:21137590-21137591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188408559	chr4:21137595-21137596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150536193	chr4:21137606-21137607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1433487	chr4:21137611-21137612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562874715	chr4:21137659-21137660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140461509	chr4:21137660-21137661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144453820	chr4:21137700-21137701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551716356	chr4:21137729-21137730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545417532	chr4:21137747-21137748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73245255	chr4:21137750-21137751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147430015	chr4:21137766-21137767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16870438	chr4:21137774-21137775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1433486	chr4:21137783-21137784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75113015	chr4:21137786-21137787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190705604	chr4:21137804-21137805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139795646	chr4:21137836-21137837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149979296	chr4:21137855-21137856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1433485	chr4:21137881-21137882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183363136	chr4:21137904-21137905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6841886	chr4:21137923-21137924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74478742	chr4:21137925-21137926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1433484	chr4:21137957-21137958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549028952	chr4:21137986-21137987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573610101	chr4:21138005-21138006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556500822	chr4:21138011-21138012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569168071	chr4:21138028-21138029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538946444	chr4:21138029-21138030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541131477	chr4:21138044-21138045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559248729	chr4:21138050-21138051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533174259	chr4:21138065-21138066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6448022	chr4:21138093-21138094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186546520	chr4:21138095-21138096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563561034	chr4:21138103-21138104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6448023	chr4:21138108-21138109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs16870439	chr4:21138156-21138157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56052027	chr4:21138192-21138193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191221060	chr4:21138193-21138194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547882402	chr4:21138219-21138220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183726874	chr4:21138264-21138265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188262187	chr4:21138286-21138287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370224667	chr4:21138299-21138300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34878637	chr4:21138305-21138306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1433483	chr4:21138339-21138340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21137000-21138800	Enhancers	HUVEC	blood vessel

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