Variant report

Variant	esv3338281
Chromosome Location	chr5:103589403-103590601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528542019	chr5:103589410-103589411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181054127	chr5:103589450-103589451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571579415	chr5:103589470-103589471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565568958	chr5:103589475-103589476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567848576	chr5:103589481-103589482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537042794	chr5:103589537-103589538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62363918	chr5:103589554-103589555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567578447	chr5:103589566-103589567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536452220	chr5:103589576-103589577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553123249	chr5:103589584-103589585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76808375	chr5:103589593-103589594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2121110	chr5:103589615-103589616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557815052	chr5:103589634-103589635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577614506	chr5:103589678-103589679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575309063	chr5:103589686-103589687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185090088	chr5:103589700-103589701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190917622	chr5:103589727-103589728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370400370	chr5:103589813-103589814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375196997	chr5:103589818-103589819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374590408	chr5:103589820-103589821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72256789	chr5:103589821-103589822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150788207	chr5:103589822-103589823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs70990460	chr5:103589824-103589825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13164312	chr5:103589825-103589826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573952663	chr5:103589832-103589833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542855881	chr5:103589834-103589835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559316955	chr5:103589835-103589836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528265643	chr5:103589837-103589838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551629410	chr5:103589840-103589841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565368787	chr5:103589841-103589842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530823110	chr5:103589842-103589843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550514030	chr5:103589844-103589845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567641226	chr5:103589845-103589846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368219436	chr5:103589857-103589858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371183561	chr5:103589867-103589868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374624486	chr5:103589870-103589871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67242844	chr5:103589979-103589980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183943198	chr5:103590066-103590067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566981721	chr5:103590092-103590093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539221195	chr5:103590112-103590113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557610690	chr5:103590150-103590151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187284845	chr5:103590179-103590180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191773958	chr5:103590181-103590182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537063470	chr5:103590195-103590196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558068060	chr5:103590212-103590213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556959333	chr5:103590247-103590248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573662303	chr5:103590289-103590290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542969976	chr5:103590304-103590305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75627296	chr5:103590333-103590334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559594848	chr5:103590357-103590358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103577200-103603200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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