Variant report

Variant	esv3508246
Chromosome Location	chr10:1659217-1659788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113676624	chr10:1659219-1659220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113060557	chr10:1659228-1659229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111370360	chr10:1659245-1659246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55765214	chr10:1659249-1659250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545824338	chr10:1659252-1659253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112323549	chr10:1659258-1659259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562554474	chr10:1659264-1659265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12411889	chr10:1659266-1659267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531568263	chr10:1659270-1659271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143224980	chr10:1659287-1659288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201317700	chr10:1659294-1659295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548277365	chr10:1659299-1659300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562034559	chr10:1659309-1659310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112672993	chr10:1659320-1659321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111255334	chr10:1659323-1659324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112401680	chr10:1659328-1659329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547657390	chr10:1659346-1659347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111282783	chr10:1659364-1659365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113582899	chr10:1659367-1659368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112627848	chr10:1659370-1659371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369562126	chr10:1659379-1659380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571159147	chr10:1659389-1659390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113193550	chr10:1659400-1659401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111554205	chr10:1659401-1659402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112218754	chr10:1659416-1659417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12773004	chr10:1659420-1659421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112539092	chr10:1659421-1659422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540152648	chr10:1659423-1659424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111834788	chr10:1659424-1659425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12779053	chr10:1659430-1659431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370325905	chr10:1659459-1659460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78380991	chr10:1659462-1659463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377582791	chr10:1659471-1659472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12416363	chr10:1659473-1659474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10903513	chr10:1659487-1659488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377415798	chr10:1659493-1659494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12414717	chr10:1659504-1659505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77312764	chr10:1659508-1659509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374556687	chr10:1659512-1659513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75831470	chr10:1659513-1659514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76676742	chr10:1659522-1659523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12414719	chr10:1659541-1659542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12569896	chr10:1659542-1659543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78437949	chr10:1659543-1659544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77517002	chr10:1659554-1659555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77170382	chr10:1659556-1659557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12414720	chr10:1659565-1659566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572042363	chr10:1659566-1659567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77933897	chr10:1659579-1659580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77498501	chr10:1659584-1659585	Enhancers 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1651800-1671200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:1654600-1659600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:1655400-1659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:1655400-1660000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:1658000-1667600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1659000-1660200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:1659000-1660400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr10:1659000-1660400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:1659200-1659400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:1659200-1671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:1659600-1660000	Enhancers	HUES6 Cell Line	embryonic stem cell

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