Variant report

Variant	nsv435908
Chromosome Location	chr10:5285140-5293646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:
2	chr10:5285721..5288092-chr10:5296102..5298963,2	K562	blood:
3	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:

Extended variants
information (count: 209 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs141819067	chr10:5285183-5285184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186457625	chr10:5285205-5285206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551053940	chr10:5285234-5285235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569414846	chr10:5285237-5285238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190129104	chr10:5285247-5285248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530353878	chr10:5285257-5285258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552112083	chr10:5285269-5285270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182487519	chr10:5285274-5285275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534577887	chr10:5285293-5285294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56095117	chr10:5285307-5285308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567680377	chr10:5285341-5285342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200261527	chr10:5285396-5285397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35079839	chr10:5285397-5285398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61854576	chr10:5285406-5285407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61854577	chr10:5285408-5285409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535123000	chr10:5285418-5285419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188835576	chr10:5285456-5285457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575275852	chr10:5285464-5285465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546363175	chr10:5285476-5285477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146276719	chr10:5285482-5285483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563343958	chr10:5285552-5285553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192864172	chr10:5285585-5285586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1931676	chr10:5285597-5285598	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375006943	chr10:5285620-5285621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529294118	chr10:5285640-5285641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139217273	chr10:5285678-5285679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1931677	chr10:5285696-5285697	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149930834	chr10:5285703-5285704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79924114	chr10:5285746-5285747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551867393	chr10:5285752-5285753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144083364	chr10:5285756-5285757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565544689	chr10:5285765-5285766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528300285	chr10:5285791-5285792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546482134	chr10:5285833-5285834	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541586218	chr10:5285839-5285840	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568061329	chr10:5285856-5285857	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114922649	chr10:5285869-5285870	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377061725	chr10:5285876-5285877	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556576903	chr10:5285889-5285890	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534915898	chr10:5285890-5285891	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56107516	chr10:5285892-5285893	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185829945	chr10:5285893-5285894	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530909651	chr10:5285945-5285946	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117725200	chr10:5286007-5286008	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573314782	chr10:5286019-5286020	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540867397	chr10:5286025-5286026	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12777723	chr10:5286076-5286077	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1931678	chr10:5286098-5286099	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556749941	chr10:5286105-5286106	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528505653	chr10:5286148-5286149	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5284200-5287200	Enhancers	HepG2	liver
2	chr10:5284600-5286200	Weak transcription	A549	lung
3	chr10:5285000-5285200	Weak transcription	Liver	Liver
4	chr10:5285200-5285600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:5285200-5285800	Enhancers	Liver	Liver
6	chr10:5285800-5286400	Flanking Active TSS	Liver	Liver
7	chr10:5286200-5286600	Strong transcription	A549	lung
8	chr10:5286200-5287000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:5286400-5287200	Active TSS	Liver	Liver
10	chr10:5286600-5293800	Weak transcription	A549	lung
11	chr10:5287000-5287200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:5287000-5287400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr10:5287200-5287400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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