Variant report

Variant	esv3364420
Chromosome Location	chr10:1438427-1440625
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	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs554739471	chr10:1438436-1438437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55764467	chr10:1438448-1438449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540008199	chr10:1438451-1438452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375029764	chr10:1438465-1438466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560306262	chr10:1438502-1438503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187553844	chr10:1438541-1438542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4322312	chr10:1438549-1438550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546102176	chr10:1438553-1438554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12779875	chr10:1438597-1438598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530851111	chr10:1438609-1438610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529756972	chr10:1438621-1438622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561090146	chr10:1438627-1438628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77304473	chr10:1438659-1438660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112640259	chr10:1438670-1438671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546835106	chr10:1438678-1438679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181175006	chr10:1438705-1438706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375880733	chr10:1438706-1438707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534906913	chr10:1438730-1438731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538934670	chr10:1438731-1438732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184409814	chr10:1438755-1438756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188225904	chr10:1438762-1438763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537881922	chr10:1438765-1438766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111441309	chr10:1438767-1438768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574409143	chr10:1438780-1438781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4322313	chr10:1438795-1438796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12779695	chr10:1438802-1438803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576998106	chr10:1438820-1438821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79575229	chr10:1438843-1438844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545765878	chr10:1438860-1438861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4306230	chr10:1438865-1438866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562486537	chr10:1438881-1438882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12778264	chr10:1438885-1438886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575233353	chr10:1438902-1438903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71491374	chr10:1438906-1438907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375464920	chr10:1438908-1438909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199877122	chr10:1438928-1438929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2820594	chr10:1438966-1438967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74793799	chr10:1438990-1438991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367850527	chr10:1439007-1439008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56205513	chr10:1439008-1439009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4880505	chr10:1439012-1439013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4880846	chr10:1439013-1439014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71379120	chr10:1439014-1439015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2820593	chr10:1439031-1439032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113355953	chr10:1439032-1439033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12218202	chr10:1439049-1439050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74210791	chr10:1439052-1439053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544150244	chr10:1439062-1439063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111516944	chr10:1439070-1439071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3001047	chr10:1439072-1439073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1437200-1439000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1437600-1442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:1438400-1438600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1439000-1442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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