Variant report

Variant	nsv523631
Chromosome Location	chr10:5164836-5170495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5169411..5171944-chr10:5173509..5175691,2	K562	blood:
2	chr10:5166174..5167900-chr10:5189108..5191670,2	MCF-7	breast:
3	chr10:5163399..5166048-chr10:5166871..5170286,3	K562	blood:
4	chr10:5157749..5160543-chr10:5164093..5166584,2	MCF-7	breast:
5	chr10:5159415..5162131-chr10:5167591..5169595,2	MCF-7	breast:
6	chr10:5163399..5166048-chr10:5166871..5170286,3	K562	blood:

Extended variants
information (count: 248 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10795250	chr10:5164836-5164837	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115568861	chr10:5164846-5164847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587691507	chr10:5164884-5164885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587751166	chr10:5164893-5164894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587651021	chr10:5164894-5164895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150280649	chr10:5164895-5164896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587606572	chr10:5164906-5164907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35833511	chr10:5164928-5164929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188944508	chr10:5164944-5164945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587716668	chr10:5164957-5164958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138934409	chr10:5165017-5165018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372532571	chr10:5165064-5165065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587742265	chr10:5165099-5165100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181990399	chr10:5165186-5165187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184734870	chr10:5165207-5165208	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188323319	chr10:5165210-5165211	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114296689	chr10:5165270-5165271	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7089684	chr10:5165271-5165272	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180823013	chr10:5165277-5165278	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11252976	chr10:5165279-5165280	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142171108	chr10:5165285-5165286	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374157540	chr10:5165295-5165296	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12781690	chr10:5165299-5165300	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587755504	chr10:5165321-5165322	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587649093	chr10:5165346-5165347	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587683896	chr10:5165363-5165364	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587694582	chr10:5165370-5165371	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587762117	chr10:5165388-5165389	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11252977	chr10:5165395-5165396	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs587709615	chr10:5165399-5165400	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587610814	chr10:5165426-5165427	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111457827	chr10:5165443-5165444	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146199954	chr10:5165458-5165459	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11252978	chr10:5165469-5165470	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs587617448	chr10:5165494-5165495	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11252979	chr10:5165524-5165525	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1937903	chr10:5165525-5165526	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs587625571	chr10:5165538-5165539	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587662968	chr10:5165540-5165541	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587736132	chr10:5165544-5165545	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587617526	chr10:5165552-5165553	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587663996	chr10:5165565-5165566	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186751531	chr10:5165580-5165581	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112838471	chr10:5165590-5165591	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587624579	chr10:5165630-5165631	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587683503	chr10:5165662-5165663	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587761758	chr10:5165664-5165665	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10904429	chr10:5165687-5165688	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113654167	chr10:5165728-5165729	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs137941573	chr10:5165770-5165771	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5151000-5178000	Weak transcription	Adipose Nuclei	Adipose
2	chr10:5163400-5165200	Strong transcription	Liver	Liver
3	chr10:5164600-5165400	Enhancers	HepG2	liver
4	chr10:5165200-5165800	Genic enhancers	Liver	Liver
5	chr10:5165400-5165600	Enhancers	Esophagus	oesophagus
6	chr10:5165800-5169200	Enhancers	Liver	Liver
7	chr10:5167600-5168000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:5167600-5168200	Enhancers	Hela-S3	cervix
9	chr10:5167600-5168200	Enhancers	HMEC	breast
10	chr10:5169200-5170000	Weak transcription	Liver	Liver
11	chr10:5170000-5170200	Genic enhancers	Liver	Liver
12	chr10:5170200-5170800	ZNF genes & repeats	Liver	Liver

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