Variant report

Variant	esv3318023
Chromosome Location	chr19:23740519-23741045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571920246	chr19:23740531-23740532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539030347	chr19:23740545-23740546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376883627	chr19:23740573-23740574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62123405	chr19:23740586-23740587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138507904	chr19:23740590-23740591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555175982	chr19:23740601-23740602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184582144	chr19:23740616-23740617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540973358	chr19:23740618-23740619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559770611	chr19:23740632-23740633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202157510	chr19:23740650-23740651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538874283	chr19:23740655-23740656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188249905	chr19:23740671-23740672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563110889	chr19:23740700-23740701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528824602	chr19:23740704-23740705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548791800	chr19:23740708-23740709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561509630	chr19:23740709-23740710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552237140	chr19:23740730-23740731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1088414	chr19:23740743-23740744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538934554	chr19:23740761-23740762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62123406	chr19:23740802-23740803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550979237	chr19:23740826-23740827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569140665	chr19:23740836-23740837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1088413	chr19:23740842-23740843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536793537	chr19:23740849-23740850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554639970	chr19:23740857-23740858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565875441	chr19:23740882-23740883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534519498	chr19:23740888-23740889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552716486	chr19:23740889-23740890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577891534	chr19:23740927-23740928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34509422	chr19:23740933-23740934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200246930	chr19:23740944-23740945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539160701	chr19:23740945-23740946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563332885	chr19:23740946-23740947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139297140	chr19:23740949-23740950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201438507	chr19:23740953-23740954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201326328	chr19:23740955-23740956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117406576	chr19:23740984-23740985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531022308	chr19:23740997-23740998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575123980	chr19:23740998-23740999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199510084	chr19:23741023-23741024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376221783	chr19:23741024-23741025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542756803	chr19:23741031-23741032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560971353	chr19:23741036-23741037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551107728	chr19:23741042-23741043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23737800-23740800	Enhancers	Placenta	Placenta
2	chr19:23738400-23752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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