Variant report

Variant	esv1829325
Chromosome Location	chr10:56442061-56514009
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	chr10:56415458..56418401-chr10:56492218..56494776,2	K562	blood:
2	chr10:53779538..53781883-chr10:56470843..56472932,2	MCF-7	breast:

Extended variants
information (count: 742 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:742 , 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	rs538050999	chr10:56442115-56442116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367873405	chr10:56442118-56442119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554420577	chr10:56442124-56442125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188463105	chr10:56442133-56442134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192687074	chr10:56442172-56442173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199586033	chr10:56442210-56442211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142044817	chr10:56442235-56442236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572899846	chr10:56442240-56442241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545418410	chr10:56442271-56442272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556987794	chr10:56442282-56442283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565582022	chr10:56442337-56442338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371147521	chr10:56442399-56442400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550093423	chr10:56442428-56442429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567326891	chr10:56442461-56442462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115465839	chr10:56442499-56442500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534756658	chr10:56442604-56442605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529851352	chr10:56442729-56442730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546695124	chr10:56442779-56442780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553092722	chr10:56442803-56442804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532122031	chr10:56442846-56442847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551844679	chr10:56442850-56442851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184464441	chr10:56442890-56442891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537720897	chr10:56442895-56442896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570114500	chr10:56442940-56442941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112162973	chr10:56442952-56442953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554357792	chr10:56443016-56443017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1336200	chr10:56443025-56443026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150745528	chr10:56443029-56443030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370777035	chr10:56443036-56443037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188861242	chr10:56443063-56443064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34001428	chr10:56443072-56443073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181956298	chr10:56443107-56443108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558654281	chr10:56443156-56443157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367762957	chr10:56443165-56443166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575912337	chr10:56443184-56443185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113193968	chr10:56443204-56443205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557929734	chr10:56443218-56443219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544564137	chr10:56443226-56443227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561496103	chr10:56443258-56443259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372473169	chr10:56443262-56443263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117741188	chr10:56443269-56443270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560296513	chr10:56443279-56443280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184579795	chr10:56443282-56443283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552172136	chr10:56443324-56443325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375654769	chr10:56443329-56443330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571467476	chr10:56443353-56443354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562310506	chr10:56443355-56443356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139946609	chr10:56448606-56448607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181341434	chr10:56448653-56448654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139823516	chr10:56448728-56448729	Enhancers	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56441400-56442800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:56441800-56442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:56442400-56442600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:56442600-56443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:56443000-56443400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:56448600-56449000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:56449000-56451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:56450200-56452800	Enhancers	Fetal Lung	lung
9	chr10:56450800-56451600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:56451000-56451600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:56451200-56451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:56458000-56459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
14	chr10:56466600-56469000	Enhancers	Fetal Brain Male	brain
15	chr10:56467600-56468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:56468600-56469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:56470600-56471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:56471000-56472000	Weak transcription	Fetal Lung	lung
20	chr10:56472200-56472400	Enhancers	Fetal Lung	lung
21	chr10:56503200-56504200	Enhancers	Fetal Lung	lung
22	chr10:56503800-56504000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:56504000-56504400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:56504000-56505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:56504200-56505200	Weak transcription	Fetal Lung	lung
26	chr10:56504400-56505200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:56504600-56505400	Enhancers	HUVEC	blood vessel
28	chr10:56505000-56505200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:56505200-56505400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:56505200-56505400	Enhancers	Fetal Lung	lung
31	chr10:56505200-56505600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:56505200-56507000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:56505400-56505800	Weak transcription	Fetal Lung	lung
34	chr10:56505400-56506800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:56505600-56506800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:56505800-56506000	Enhancers	Fetal Lung	lung
37	chr10:56506000-56508600	Weak transcription	Fetal Lung	lung
38	chr10:56506800-56508200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:56508200-56508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:56508600-56509000	Enhancers	Fetal Lung	lung

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