Variant report

Variant	nsv819780
Chromosome Location	chr10:1553740-1555458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74121028	chr10:1553768-1553769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2676774	chr10:1553772-1553773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs566663975	chr10:1553775-1553776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538418705	chr10:1553788-1553789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192375727	chr10:1553838-1553839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150992271	chr10:1553884-1553885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57969332	chr10:1553887-1553888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182976694	chr10:1553888-1553889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573944641	chr10:1553913-1553914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543118597	chr10:1553914-1553915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559538010	chr10:1553924-1553925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528703503	chr10:1553945-1553946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376456047	chr10:1553948-1553949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142273357	chr10:1553969-1553970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565461630	chr10:1553999-1554000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531258278	chr10:1554004-1554005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551291786	chr10:1554005-1554006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567294680	chr10:1554007-1554008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529618049	chr10:1554008-1554009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534257495	chr10:1554013-1554014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546698213	chr10:1554021-1554022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566411188	chr10:1554023-1554024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2813444	chr10:1554026-1554027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558359024	chr10:1554037-1554038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80293877	chr10:1554038-1554039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2813445	chr10:1554073-1554074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554530790	chr10:1554129-1554130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114666141	chr10:1554246-1554247	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542624464	chr10:1554259-1554260	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553445463	chr10:1554264-1554265	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs573407327	chr10:1554266-1554267	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545494932	chr10:1554275-1554276	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565524362	chr10:1554337-1554338	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531116485	chr10:1554338-1554339	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1972309	chr10:1554372-1554373	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11250574	chr10:1554410-1554411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529708684	chr10:1554440-1554441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115250729	chr10:1554448-1554449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376907759	chr10:1554455-1554456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532123857	chr10:1554595-1554596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369186520	chr10:1554606-1554607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61831921	chr10:1554648-1554649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576275390	chr10:1554672-1554673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568723142	chr10:1554673-1554674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537604758	chr10:1554677-1554678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142351633	chr10:1554735-1554736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2813446	chr10:1554742-1554743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76110140	chr10:1554743-1554744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138784710	chr10:1554761-1554762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373630866	chr10:1554774-1554775	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1547200-1564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1549400-1558200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1551200-1553800	Enhancers	Brain Germinal Matrix	brain
4	chr10:1551600-1566800	Weak transcription	Fetal Brain Male	brain
5	chr10:1554200-1554400	Bivalent/Poised TSS	Brain Substantia Nigra	brain

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