Variant report

Variant	esv3342251
Chromosome Location	chr4:20472879-20475427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs576855069	chr4:20472889-20472890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200554966	chr4:20472894-20472895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148869663	chr4:20472896-20472897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79245501	chr4:20472900-20472901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111300883	chr4:20472901-20472902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369545055	chr4:20472916-20472917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567059241	chr4:20472939-20472940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75796983	chr4:20472944-20472945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376204211	chr4:20472951-20472952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574067467	chr4:20472982-20472983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370600025	chr4:20472985-20472986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539968391	chr4:20472986-20472987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541441229	chr4:20473021-20473022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201336944	chr4:20473029-20473030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527982695	chr4:20473098-20473099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142544149	chr4:20473101-20473102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564744833	chr4:20473117-20473118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150573628	chr4:20473140-20473141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151006558	chr4:20473174-20473175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182364140	chr4:20473188-20473189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187359194	chr4:20473194-20473195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11936122	chr4:20473278-20473279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547813796	chr4:20473313-20473314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139620718	chr4:20473354-20473355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535459517	chr4:20473355-20473356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564429253	chr4:20473381-20473382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149747655	chr4:20473444-20473445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78531498	chr4:20473462-20473463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189377463	chr4:20473474-20473475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552070834	chr4:20473512-20473513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116685648	chr4:20473555-20473556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144659257	chr4:20473569-20473570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76989817	chr4:20473618-20473619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180962266	chr4:20473685-20473686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574205373	chr4:20473689-20473690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535038492	chr4:20473749-20473750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186385938	chr4:20473756-20473757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190292378	chr4:20473785-20473786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1902845	chr4:20473799-20473800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182854241	chr4:20473806-20473807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537936867	chr4:20473831-20473832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374806884	chr4:20473832-20473833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368539573	chr4:20473847-20473848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74814683	chr4:20473851-20473852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543661475	chr4:20473852-20473853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564749204	chr4:20473866-20473867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546128488	chr4:20473869-20473870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578105037	chr4:20473870-20473871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200950985	chr4:20473875-20473876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202075683	chr4:20473877-20473878	Weak transcription	n/a	n/a	Overlapped CNVs	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
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20449600-20486000	Weak transcription	Fetal Lung	lung
2	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:20465000-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20466600-20481800	Weak transcription	NHDF-Ad	bronchial
5	chr4:20466600-20484800	Weak transcription	Osteobl	bone
6	chr4:20466800-20489200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:20466800-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:20473000-20473400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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