Variant report

Variant	esv3344832
Chromosome Location	chr5:54112445-54114943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62355007	chr5:54112491-54112492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552682899	chr5:54112508-54112509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565123538	chr5:54112512-54112513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187678200	chr5:54112525-54112526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148759030	chr5:54112546-54112547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142424165	chr5:54112554-54112555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565845061	chr5:54112582-54112583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527895725	chr5:54112600-54112601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151325232	chr5:54112619-54112620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192391741	chr5:54112622-54112623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536782396	chr5:54112637-54112638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558383320	chr5:54112642-54112643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373497343	chr5:54112649-54112650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534910858	chr5:54112650-54112651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570940061	chr5:54112724-54112725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183223032	chr5:54112725-54112726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187136514	chr5:54112734-54112735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557420191	chr5:54112765-54112766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575694272	chr5:54112779-54112780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546186421	chr5:54112794-54112795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76967010	chr5:54112797-54112798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528545044	chr5:54112802-54112803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540909177	chr5:54112813-54112814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139022390	chr5:54112858-54112859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529963973	chr5:54113036-54113037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548062452	chr5:54113043-54113044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531888232	chr5:54113107-54113108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187804601	chr5:54113109-54113110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569578022	chr5:54113134-54113135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530447647	chr5:54113196-54113197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111369460	chr5:54113211-54113212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552106798	chr5:54113215-54113216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111338352	chr5:54113221-54113222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570465524	chr5:54113223-54113224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567513925	chr5:54113337-54113338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534710134	chr5:54113344-54113345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553338203	chr5:54113349-54113350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568648462	chr5:54113378-54113379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370804175	chr5:54113430-54113431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536189300	chr5:54113456-54113457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375235071	chr5:54113504-54113505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557703848	chr5:54113583-54113584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575961305	chr5:54113606-54113607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545886369	chr5:54113618-54113619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558122862	chr5:54113619-54113620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573302849	chr5:54113632-54113633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10805468	chr5:54113655-54113656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559154496	chr5:54113685-54113686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147658164	chr5:54113693-54113694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529852805	chr5:54113713-54113714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54109400-54117800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:54114400-54114600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr5:54114600-54115000	Weak transcription	H9 Cell Line	embryonic stem cell

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