Variant report

Variant	esv2757390
Chromosome Location	chr10:58567723-58644512
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	chr10:58621047..58621938-chr15:50576510..50577380,2	MCF-7	breast:
2	chr10:58599935..58600523-chr14:31323462..31324054,2	MCF-7	breast:

Extended variants
information (count: 1179 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1179 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11005541	chr10:58567723-58567724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150684513	chr10:58567761-58567762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567062597	chr10:58567791-58567792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528028539	chr10:58567856-58567857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549678599	chr10:58567874-58567875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568087081	chr10:58567900-58567901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535397771	chr10:58567964-58567965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79182645	chr10:58567978-58567979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568885667	chr10:58568061-58568062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188978940	chr10:58568129-58568130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557571348	chr10:58568145-58568146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143932627	chr10:58568192-58568193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201293636	chr10:58568257-58568258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555212910	chr10:58568290-58568291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573960392	chr10:58568307-58568308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562590511	chr10:58568323-58568324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146360728	chr10:58568339-58568340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562738155	chr10:58568362-58568363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543485430	chr10:58568404-58568405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533509098	chr10:58568415-58568416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139730370	chr10:58568452-58568453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144243591	chr10:58568469-58568470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527862748	chr10:58568475-58568476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549717184	chr10:58568476-58568477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4145022	chr10:58568504-58568505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528882730	chr10:58568591-58568592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368467491	chr10:58569839-58569840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs68179458	chr10:58569840-58569841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554307841	chr10:58569847-58569848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369857461	chr10:58569854-58569855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371718061	chr10:58569880-58569881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572617192	chr10:58569954-58569955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147020986	chr10:58569957-58569958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10763421	chr10:58569961-58569962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1980777	chr10:58569967-58569968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181529856	chr10:58569973-58569974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565404546	chr10:58569983-58569984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186539476	chr10:58570015-58570016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1980778	chr10:58570037-58570038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs199654841	chr10:58570103-58570104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527419502	chr10:58570104-58570105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371325484	chr10:58570115-58570116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs118126412	chr10:58570119-58570120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531373006	chr10:58570159-58570160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147614822	chr10:58570176-58570177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540888389	chr10:58580864-58580865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188461014	chr10:58580865-58580866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558844624	chr10:58580870-58580871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540737128	chr10:58580873-58580874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561999966	chr10:58580895-58580896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58567200-58568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:58567600-58568200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:58568000-58568400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr10:58568400-58568600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:58569800-58570200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:58580800-58583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:58582000-58582400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:58583600-58583800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:58597400-58598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:58604600-58605800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:58604800-58606200	Enhancers	Adipose Nuclei	Adipose
12	chr10:58618600-58636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:58621800-58622200	Enhancers	Fetal Lung	lung
14	chr10:58626800-58627400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:58636000-58636200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:58636200-58639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:58636400-58637000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:58639400-58640200	Enhancers	Fetal Lung	lung
19	chr10:58640200-58640800	Flanking Active TSS	Fetal Lung	lung
20	chr10:58640400-58640800	Enhancers	Adipose Nuclei	Adipose
21	chr10:58640400-58641200	Enhancers	Ovary	ovary
22	chr10:58640600-58641200	Enhancers	Fetal Stomach	stomach
23	chr10:58640800-58642000	Enhancers	Fetal Lung	lung
24	chr10:58641000-58641600	Enhancers	Fetal Kidney	kidney

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