Variant report

Variant	nsv971912
Chromosome Location	chr10:55026583-55044019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
2	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
3	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:
4	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143849618	chr10:55026615-55026616	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566277541	chr10:55026622-55026623	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181731868	chr10:55026655-55026656	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75488688	chr10:55026660-55026661	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78265623	chr10:55026685-55026686	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186309552	chr10:55026688-55026689	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556568822	chr10:55026691-55026692	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189480388	chr10:55026712-55026713	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542723719	chr10:55026778-55026779	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74134510	chr10:55026784-55026785	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79711219	chr10:55026785-55026786	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377762155	chr10:55026820-55026821	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545271784	chr10:55026866-55026867	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565170056	chr10:55026877-55026878	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530858897	chr10:55026937-55026938	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550175276	chr10:55026950-55026951	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563720326	chr10:55026971-55026972	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545795644	chr10:55028061-55028062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4587643	chr10:55028080-55028081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545107836	chr10:55028112-55028113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34191308	chr10:55028115-55028116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10824964	chr10:55028117-55028118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200209005	chr10:55028124-55028125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80286268	chr10:55028134-55028135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550934833	chr10:55028150-55028151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567934237	chr10:55028157-55028158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559324801	chr10:55028201-55028202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73614452	chr10:55028220-55028221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187625917	chr10:55028288-55028289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546545212	chr10:55028299-55028300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566486523	chr10:55028312-55028313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572791029	chr10:55028332-55028333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192560994	chr10:55028336-55028337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184038432	chr10:55028350-55028351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569018498	chr10:55028352-55028353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117922234	chr10:55028360-55028361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541715118	chr10:55028382-55028383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187775552	chr10:55028384-55028385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192507915	chr10:55028403-55028404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540173437	chr10:55028421-55028422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184852447	chr10:55028589-55028590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373778324	chr10:55028608-55028609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189614297	chr10:55028675-55028676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140695793	chr10:55028686-55028687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530949250	chr10:55028747-55028748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544773280	chr10:55028754-55028755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145891466	chr10:55028773-55028774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530382080	chr10:55028785-55028786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571681524	chr10:55028855-55028856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546985980	chr10:55028930-55028931	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55025200-55026800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:55026000-55026600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:55026600-55026800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:55026800-55027000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:55028000-55031200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:55031200-55031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:55032000-55035400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:55032200-55032400	Enhancers	Stomach Mucosa	stomach

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