Variant report

Variant	esv1823954
Chromosome Location	chr10:54879944-54884522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs2384130	chr10:54879944-54879945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533811453	chr10:54879946-54879947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373612070	chr10:54879962-54879963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147299434	chr10:54879981-54879982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374718992	chr10:54880008-54880009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570401468	chr10:54880053-54880054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539750144	chr10:54880117-54880118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115284356	chr10:54880138-54880139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576751789	chr10:54880254-54880255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139200287	chr10:54880353-54880354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371948723	chr10:54880356-54880357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143198117	chr10:54880371-54880372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568714425	chr10:54880375-54880376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16937220	chr10:54880387-54880388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185638397	chr10:54880396-54880397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144863205	chr10:54880421-54880422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188862914	chr10:54880423-54880424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577920112	chr10:54880434-54880435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74560894	chr10:54880452-54880453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148582532	chr10:54880456-54880457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536018239	chr10:54880570-54880571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181575738	chr10:54880585-54880586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555594803	chr10:54880654-54880655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531448694	chr10:54880657-54880658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547959428	chr10:54880743-54880744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80032526	chr10:54880770-54880771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11003394	chr10:54880775-54880776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562282157	chr10:54880793-54880794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186130307	chr10:54880811-54880812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569118060	chr10:54880888-54880889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557724801	chr10:54880941-54880942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539410018	chr10:54880951-54880952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550543905	chr10:54881006-54881007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs66694008	chr10:54881009-54881010	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377127475	chr10:54881013-54881014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374631942	chr10:54881060-54881061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191802057	chr10:54881096-54881097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556014426	chr10:54881110-54881111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566233972	chr10:54881141-54881142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73350647	chr10:54881156-54881157	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142815438	chr10:54881163-54881164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370310313	chr10:54881230-54881231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577988459	chr10:54881245-54881246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543796327	chr10:54881288-54881289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556066613	chr10:54881290-54881291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184151878	chr10:54881321-54881322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117732418	chr10:54881338-54881339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561548823	chr10:54881365-54881366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527441557	chr10:54881368-54881369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540809219	chr10:54881387-54881388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54877200-54881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:54879800-54880200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:54881000-54881200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:54881200-54884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:54881400-54881800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr10:54881400-54883000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:54881800-54882600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:54882600-54883200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:54883000-54884000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:54883600-54884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:54884000-54884400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:54884000-54884400	Enhancers	Primary monocytes fromperipheralblood	blood

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