Variant report

Variant	esv20912
Chromosome Location	chr10:54883289-54884635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113870301	chr10:54883306-54883307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79462980	chr10:54883340-54883341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397787403	chr10:54883343-54883344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1006677	chr10:54883360-54883361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190518907	chr10:54883362-54883363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149925377	chr10:54883418-54883419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111855236	chr10:54883420-54883421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12569789	chr10:54883442-54883443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534170925	chr10:54883449-54883450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11003395	chr10:54883459-54883460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551698433	chr10:54883460-54883461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386743796	chr10:54883469-54883470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11596325	chr10:54883480-54883481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557208121	chr10:54883507-54883508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567439034	chr10:54883514-54883515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536349430	chr10:54883524-54883525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11591937	chr10:54883560-54883561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11599201	chr10:54883571-54883572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11591938	chr10:54883577-54883578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558858133	chr10:54883578-54883579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145128537	chr10:54883585-54883586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544477434	chr10:54883591-54883592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561151678	chr10:54883601-54883602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs33981018	chr10:54883642-54883643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11599226	chr10:54883660-54883661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11598681	chr10:54883666-54883667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560376914	chr10:54883678-54883679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12771669	chr10:54883692-54883693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552587612	chr10:54883713-54883714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113500282	chr10:54883735-54883736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386371374	chr10:54883736-54883737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12769665	chr10:54883752-54883753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192710413	chr10:54883784-54883785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66765524	chr10:54883785-54883786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs67900879	chr10:54883808-54883809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs67709305	chr10:54883814-54883815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553061250	chr10:54883815-54883816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72802363	chr10:54883844-54883845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs67370411	chr10:54883847-54883848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558154327	chr10:54883857-54883858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11003396	chr10:54883866-54883867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs68148849	chr10:54883911-54883912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11003397	chr10:54883943-54883944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575021022	chr10:54883964-54883965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72802367	chr10:54883997-54883998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183947707	chr10:54884019-54884020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149102702	chr10:54884076-54884077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11003398	chr10:54884082-54884083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11003399	chr10:54884089-54884090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374235511	chr10:54884099-54884100	Enhancers 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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54881200-54884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:54883000-54884000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr10:54883600-54884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:54884000-54884400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:54884000-54884400	Enhancers	Primary monocytes fromperipheralblood	blood

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