Variant report

Variant	esv2760116
Chromosome Location	chr10:58843656-58861802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58851859..58854706-chr10:58856434..58858287,2	K562	blood:
2	chr10:58851859..58854706-chr10:58856434..58858287,2	K562	blood:
3	chr10:58846604..58849406-chr10:58852158..58853695,2	MCF-7	breast:
4	chr10:58846604..58849406-chr10:58852158..58853695,2	MCF-7	breast:

Extended variants
information (count: 304 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535768728	chr10:58851434-58851435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187444019	chr10:58851476-58851477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12263769	chr10:58851535-58851536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139825854	chr10:58851599-58851600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578069098	chr10:58851608-58851609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565042098	chr10:58851636-58851637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149769187	chr10:58851641-58851642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192226908	chr10:58851657-58851658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184010028	chr10:58851674-58851675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34323969	chr10:58851792-58851793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529885876	chr10:58851797-58851798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117730251	chr10:58851825-58851826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188691032	chr10:58851838-58851839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530954645	chr10:58851895-58851896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552285616	chr10:58851904-58851905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557434444	chr10:58851962-58851963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193006949	chr10:58851963-58851964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528580873	chr10:58851967-58851968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548598380	chr10:58854020-58854021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544176612	chr10:58854029-58854030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61848446	chr10:58854091-58854092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578041303	chr10:58854127-58854128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545131188	chr10:58854142-58854143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112961737	chr10:58854170-58854171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183706776	chr10:58854206-58854207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562600169	chr10:58854237-58854238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187936245	chr10:58854274-58854275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543377505	chr10:58854296-58854297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553402842	chr10:58854300-58854301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372347434	chr10:58854307-58854308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531291392	chr10:58854316-58854317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561544040	chr10:58854461-58854462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563132921	chr10:58854509-58854510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11005632	chr10:58854530-58854531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73286532	chr10:58854555-58854556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568721437	chr10:58854570-58854571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191966646	chr10:58854579-58854580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201742468	chr10:58854582-58854583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533053045	chr10:58854587-58854588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551165447	chr10:58854589-58854590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183033100	chr10:58854594-58854595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533721342	chr10:58854641-58854642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555267995	chr10:58854660-58854661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7918830	chr10:58854661-58854662	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556529588	chr10:58854687-58854688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7919772	chr10:58854698-58854699	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545505774	chr10:58854724-58854725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368471428	chr10:58854750-58854751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187661987	chr10:58854774-58854775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113407336	chr10:58854794-58854795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58851400-58851800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:58851400-58851800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:58851400-58852000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr10:58851400-58852000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:58854000-58863600	Weak transcription	Right Atrium	heart
6	chr10:58854600-58855000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:58854800-58856200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:58854800-58856400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:58855800-58856200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr10:58856000-58856200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr10:58856200-58856400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr10:58856200-58856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:58856200-58863000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:58856400-58861400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:58856400-58862600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:58857200-58861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:58857800-58859000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:58858400-58858600	Enhancers	Fetal Lung	lung
19	chr10:58858600-58858800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:58858800-58859800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:58859800-58860000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:58860000-58861400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:58861000-58863400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:58861400-58861600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr10:58861400-58862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:58861400-58863200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:58861400-58863200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr10:58861400-58863400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr10:58861400-58863400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr10:58861400-58863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr10:58861400-58863600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:58861600-58862600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr10:58861600-58863400	Enhancers	HUES48 Cell Line	embryonic stem cell

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