Variant report

Variant	esv2449058
Chromosome Location	chr5:89422277-89423829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89421664..89423679-chr5:89426174..89427694,2	K562	blood:
2	chr5:89420852..89423654-chr5:89435260..89437049,2	K562	blood:
3	chr5:89415426..89417815-chr5:89422872..89425153,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576868820	chr5:89422281-89422282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543174658	chr5:89422377-89422378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539748395	chr5:89422428-89422429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377711284	chr5:89422431-89422432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553280016	chr5:89422439-89422440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7723377	chr5:89422453-89422454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542045573	chr5:89422495-89422496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9686154	chr5:89422496-89422497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2950026	chr5:89422501-89422502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs559801962	chr5:89422513-89422514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563905166	chr5:89422523-89422524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532978092	chr5:89422540-89422541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189189762	chr5:89422597-89422598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533107397	chr5:89422629-89422630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182424290	chr5:89422637-89422638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562841205	chr5:89422688-89422689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535366605	chr5:89422705-89422706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560877875	chr5:89422711-89422712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145568933	chr5:89422721-89422722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549581135	chr5:89422752-89422753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569324222	chr5:89422760-89422761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74414463	chr5:89422821-89422822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373347229	chr5:89422868-89422869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115749758	chr5:89422871-89422872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73182859	chr5:89423030-89423031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116378455	chr5:89423061-89423062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7708560	chr5:89423107-89423108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552678290	chr5:89423149-89423150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2950027	chr5:89423229-89423230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2950028	chr5:89423274-89423275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555554800	chr5:89423283-89423284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56043613	chr5:89423288-89423289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186545382	chr5:89423303-89423304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138183193	chr5:89423347-89423348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142794003	chr5:89423369-89423370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534012061	chr5:89423371-89423372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377415844	chr5:89423465-89423466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540654258	chr5:89423603-89423604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560265058	chr5:89423659-89423660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190226599	chr5:89423700-89423701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73772608	chr5:89423713-89423714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113086788	chr5:89423742-89423743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563101915	chr5:89423776-89423777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531991641	chr5:89423782-89423783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146087600	chr5:89423794-89423795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89414000-89427200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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