Variant report

Variant	esv2753387
Chromosome Location	chr10:58434394-58510694
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	chr10:58458032..58460416-chr10:58460857..58463853,2	K562	blood:
2	chr10:58458032..58460416-chr10:58460857..58463853,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs183241553	chr10:58437221-58437222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533987821	chr10:58437268-58437269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534027949	chr10:58437293-58437294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34915333	chr10:58437311-58437312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372892377	chr10:58437328-58437329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567516646	chr10:58437343-58437344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4935147	chr10:58437390-58437391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4935148	chr10:58437395-58437396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187565111	chr10:58437399-58437400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190769086	chr10:58437423-58437424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557697241	chr10:58437433-58437434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572919643	chr10:58437441-58437442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370037986	chr10:58437480-58437481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540329890	chr10:58437508-58437509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561797042	chr10:58437532-58437533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4935655	chr10:58437543-58437544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576528678	chr10:58437566-58437567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562561384	chr10:58437586-58437587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533205843	chr10:58437589-58437590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142488625	chr10:58437593-58437594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77622142	chr10:58437603-58437604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371201354	chr10:58437622-58437623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182319916	chr10:58437625-58437626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527726437	chr10:58437640-58437641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570901182	chr10:58437696-58437697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538362825	chr10:58437705-58437706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150513440	chr10:58437708-58437709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537971606	chr10:58437749-58437750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116374949	chr10:58437789-58437790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186586992	chr10:58437845-58437846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539308253	chr10:58437884-58437885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554212288	chr10:58437916-58437917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572852240	chr10:58437997-58437998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533808117	chr10:58438027-58438028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555420640	chr10:58438065-58438066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573752528	chr10:58438069-58438070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543976544	chr10:58438070-58438071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562663647	chr10:58438086-58438087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577802826	chr10:58438094-58438095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10763385	chr10:58438117-58438118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144041240	chr10:58438157-58438158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572683974	chr10:58438193-58438194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527596708	chr10:58438230-58438231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548937962	chr10:58438246-58438247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10740677	chr10:58438266-58438267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531652358	chr10:58438286-58438287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371442500	chr10:58438294-58438295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550046261	chr10:58438297-58438298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564548422	chr10:58438303-58438304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571807221	chr10:58438374-58438375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58437200-58439600	Weak transcription	Fetal Heart	heart
2	chr10:58458600-58459400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:58482600-58483200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr10:58482800-58483200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:58505000-58505600	Enhancers	HMEC	breast
6	chr10:58505400-58505800	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links