Variant report

Variant	esv3446795
Chromosome Location	chr10:1450477-1453325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1448874..1450654-chr10:1453842..1455839,2	K562	blood:
2	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:
3	chr10:1449013..1451560-chr10:1498248..1499822,2	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188611832	chr10:1450486-1450487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74807180	chr10:1450599-1450600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138955068	chr10:1450607-1450608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200501534	chr10:1450688-1450689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577585489	chr10:1450691-1450692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546212149	chr10:1450738-1450739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181096400	chr10:1450756-1450757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531254915	chr10:1450769-1450770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527248052	chr10:1450798-1450799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185187466	chr10:1450807-1450808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373010076	chr10:1450814-1450815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527399592	chr10:1450827-1450828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142678544	chr10:1450830-1450831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570339664	chr10:1450864-1450865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539706220	chr10:1450873-1450874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147348249	chr10:1451005-1451006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569231703	chr10:1451012-1451013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187809019	chr10:1451085-1451086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10903442	chr10:1451102-1451103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568535773	chr10:1451167-1451168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534312675	chr10:1451178-1451179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377253599	chr10:1451205-1451206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554387289	chr10:1451293-1451294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114229621	chr10:1451296-1451297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374694558	chr10:1451318-1451319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546471430	chr10:1451327-1451328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536367616	chr10:1451346-1451347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576680770	chr10:1451358-1451359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147099073	chr10:1451384-1451385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541390193	chr10:1451386-1451387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561367676	chr10:1451387-1451388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386739836	chr10:1451398-1451399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191906580	chr10:1451401-1451402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34342834	chr10:1451414-1451415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540762700	chr10:1451416-1451417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563930521	chr10:1451420-1451421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533026276	chr10:1451424-1451425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139481834	chr10:1451436-1451437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2820669	chr10:1451438-1451439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569813447	chr10:1451452-1451453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537983057	chr10:1451453-1451454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529206327	chr10:1451472-1451473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548241191	chr10:1451475-1451476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548576873	chr10:1451476-1451477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190969601	chr10:1451533-1451534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541884623	chr10:1451589-1451590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376038985	chr10:1451592-1451593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58381255	chr10:1451594-1451595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554352572	chr10:1451609-1451610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570925751	chr10:1451610-1451611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1443600-1456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1450000-1453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1451000-1451200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1451000-1451400	Enhancers	Pancreas	Pancrea
5	chr10:1451200-1455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:1451400-1451600	Weak transcription	Gastric	stomach
7	chr10:1451600-1451800	Enhancers	Gastric	stomach
8	chr10:1451600-1455400	Enhancers	Dnd41	blood
9	chr10:1451800-1461600	Weak transcription	Gastric	stomach
10	chr10:1453000-1453600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:1453200-1453600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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