Variant report

Variant	esv3409946
Chromosome Location	chr15:54430660-54434958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571803666	chr15:54432208-54432209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370247057	chr15:54432213-54432214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564906273	chr15:54432215-54432216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576547062	chr15:54432246-54432247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184598144	chr15:54432290-54432291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187816476	chr15:54432314-54432315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547553782	chr15:54432388-54432389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12594204	chr15:54432421-54432422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4550400	chr15:54432447-54432448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs193284994	chr15:54432453-54432454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113391788	chr15:54432594-54432595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185072498	chr15:54432607-54432608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537402111	chr15:54432674-54432675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190416622	chr15:54432690-54432691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577978525	chr15:54432700-54432701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142194636	chr15:54432708-54432709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542988246	chr15:54432718-54432719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554038207	chr15:54432738-54432739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573878156	chr15:54432762-54432763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78488056	chr15:54432767-54432768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145993499	chr15:54432769-54432770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8032249	chr15:54432792-54432793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545049272	chr15:54432832-54432833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192671617	chr15:54432844-54432845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184216537	chr15:54432847-54432848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547659333	chr15:54432857-54432858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138802445	chr15:54432884-54432885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530221052	chr15:54432921-54432922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549070194	chr15:54432925-54432926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142754966	chr15:54432931-54432932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8032180	chr15:54432964-54432965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532661614	chr15:54432984-54432985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10599424	chr15:54433024-54433025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397830078	chr15:54433027-54433028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534128412	chr15:54433039-54433040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554099478	chr15:54433041-54433042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573890951	chr15:54433056-54433057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2414268	chr15:54433084-54433085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532602842	chr15:54433119-54433120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150734883	chr15:54433127-54433128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576427531	chr15:54433148-54433149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17634494	chr15:54433175-54433176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564964484	chr15:54433189-54433190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572102515	chr15:54433268-54433269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541363595	chr15:54433279-54433280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137951466	chr15:54433285-54433286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530317373	chr15:54433316-54433317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550078947	chr15:54433340-54433341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs754177	chr15:54433380-54433381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562618409	chr15:54433440-54433441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54432200-54451200	Weak transcription	Fetal Lung	lung

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