Variant report

Variant	esv3427422
Chromosome Location	chr10:1882052-1886250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1886106..1888077-chr10:1890790..1892501,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187586570	chr10:1883600-1883601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191444319	chr10:1883601-1883602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567064989	chr10:1883668-1883669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539273312	chr10:1883692-1883693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542142590	chr10:1883696-1883697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568939572	chr10:1883738-1883739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183899769	chr10:1883740-1883741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554566927	chr10:1883743-1883744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574131617	chr10:1883768-1883769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73598618	chr10:1883771-1883772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74732768	chr10:1883787-1883788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576618602	chr10:1883840-1883841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368774828	chr10:1883864-1883865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545989517	chr10:1883868-1883869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562004938	chr10:1883887-1883888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188631983	chr10:1883920-1883921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544412236	chr10:1883972-1883973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561244422	chr10:1883978-1883979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191939263	chr10:1883990-1883991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373434424	chr10:1883996-1883997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374855498	chr10:1884007-1884008	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115654935	chr10:1884031-1884032	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149081208	chr10:1884048-1884049	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117689573	chr10:1884062-1884063	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531876252	chr10:1884091-1884092	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60010128	chr10:1884093-1884094	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568826797	chr10:1884099-1884100	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537931950	chr10:1884100-1884101	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548008697	chr10:1884102-1884103	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151201160	chr10:1884103-1884104	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140365731	chr10:1884109-1884110	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539619267	chr10:1884111-1884112	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147010965	chr10:1884117-1884118	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9633667	chr10:1884156-1884157	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185204958	chr10:1884164-1884165	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539224392	chr10:1884169-1884170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190439422	chr10:1884172-1884173	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557209368	chr10:1884179-1884180	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372382214	chr10:1884188-1884189	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544687264	chr10:1884191-1884192	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139031696	chr10:1884194-1884195	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182086600	chr10:1884203-1884204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116947316	chr10:1884208-1884209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536421402	chr10:1884209-1884210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560741800	chr10:1884215-1884216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201169717	chr10:1884220-1884221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534258258	chr10:1884245-1884246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143045778	chr10:1884252-1884253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370476926	chr10:1884253-1884254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532857538	chr10:1884256-1884257	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1883600-1884000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:1884000-1884200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:1884000-1884400	Enhancers	Pancreas	Pancrea

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