Variant report

Variant	esv3376643
Chromosome Location	chr10:56933114-56933399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552610587	chr10:56933120-56933121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369147293	chr10:56933125-56933126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371490699	chr10:56933140-56933141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529065466	chr10:56933153-56933154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72801679	chr10:56933173-56933174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568407429	chr10:56933177-56933178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534065332	chr10:56933186-56933187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565611125	chr10:56933197-56933198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553832028	chr10:56933249-56933250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372128400	chr10:56933262-56933263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12572873	chr10:56933271-56933272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183625551	chr10:56933319-56933320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556181701	chr10:56933324-56933325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575751664	chr10:56933339-56933340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376986202	chr10:56933343-56933344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561137052	chr10:56933357-56933358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144088113	chr10:56933360-56933361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544778936	chr10:56933374-56933375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188562982	chr10:56933379-56933380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56932200-56933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:56932800-56934000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr10:56933000-56934000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:56933000-56934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:56933000-56934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:56933000-56934400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:56933200-56933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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