Variant report

Variant	nsv1053651
Chromosome Location	chr10:56478151-56545395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:56415458..56418401-chr10:56492218..56494776,2	K562	blood:
2	chr10:56526299..56528028-chr10:56531368..56533054,2	K562	blood:
3	chr10:56524841..56527754-chr10:56535899..56538801,2	K562	blood:
4	chr10:56526299..56528028-chr10:56531368..56533054,2	K562	blood:
5	chr10:56524841..56527754-chr10:56535899..56538801,2	K562	blood:

Extended variants
information (count: 715 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150077741	chr10:56503257-56503258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190063265	chr10:56503292-56503293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528934567	chr10:56503295-56503296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7073425	chr10:56503303-56503304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558887543	chr10:56503326-56503327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528391799	chr10:56503330-56503331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117715094	chr10:56503390-56503391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145536811	chr10:56503391-56503392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564356970	chr10:56503408-56503409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563461479	chr10:56503439-56503440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570056741	chr10:56503453-56503454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531530150	chr10:56503459-56503460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74136256	chr10:56503468-56503469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2050545	chr10:56503477-56503478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183000449	chr10:56503480-56503481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535368009	chr10:56503485-56503486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559891692	chr10:56503495-56503496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558474052	chr10:56503521-56503522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7091341	chr10:56503554-56503555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376491855	chr10:56503577-56503578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370110904	chr10:56503578-56503579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397791591	chr10:56503587-56503588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs207470946	chr10:56503660-56503661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562274204	chr10:56503689-56503690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547527145	chr10:56503707-56503708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368097263	chr10:56503721-56503722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143358640	chr10:56503728-56503729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542287324	chr10:56503775-56503776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11004534	chr10:56503833-56503834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532974446	chr10:56503873-56503874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544940929	chr10:56503875-56503876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565029319	chr10:56503925-56503926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530787644	chr10:56504007-56504008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550514333	chr10:56504015-56504016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187293036	chr10:56504024-56504025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373685902	chr10:56504077-56504078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529431468	chr10:56504104-56504105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12412639	chr10:56504137-56504138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570299210	chr10:56504163-56504164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12416350	chr10:56504214-56504215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535008784	chr10:56504235-56504236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61424293	chr10:56504265-56504266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143181640	chr10:56504285-56504286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73266148	chr10:56504288-56504289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373149419	chr10:56504330-56504331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565845660	chr10:56504355-56504356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573873541	chr10:56504369-56504370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1832185	chr10:56504373-56504374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552638686	chr10:56504378-56504379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572548527	chr10:56504408-56504409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56503200-56504200	Enhancers	Fetal Lung	lung
2	chr10:56503800-56504000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:56504000-56504400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:56504000-56505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:56504200-56505200	Weak transcription	Fetal Lung	lung
6	chr10:56504400-56505200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:56504600-56505400	Enhancers	HUVEC	blood vessel
8	chr10:56505000-56505200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:56505200-56505400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:56505200-56505400	Enhancers	Fetal Lung	lung
11	chr10:56505200-56505600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:56505200-56507000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:56505400-56505800	Weak transcription	Fetal Lung	lung
14	chr10:56505400-56506800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:56505600-56506800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:56505800-56506000	Enhancers	Fetal Lung	lung
17	chr10:56506000-56508600	Weak transcription	Fetal Lung	lung
18	chr10:56506800-56508200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:56508200-56508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:56508600-56509000	Enhancers	Fetal Lung	lung
21	chr10:56518400-56519000	Enhancers	HUVEC	blood vessel
22	chr10:56527400-56531000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:56528400-56528600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:56528400-56529600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:56528400-56529600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:56528600-56529200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:56528600-56533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:56529200-56529600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:56529600-56532600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:56532600-56533000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:56533000-56537800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:56533600-56534000	Enhancers	Liver	Liver
33	chr10:56537200-56539000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:56537800-56539000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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