Variant report

Variant	esv3432801
Chromosome Location	chr10:55338217-55338732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183111170	chr10:55338230-55338231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs439136	chr10:55338240-55338241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554342892	chr10:55338244-55338245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568177757	chr10:55338249-55338250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530549494	chr10:55338250-55338251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187083045	chr10:55338266-55338267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112370323	chr10:55338286-55338287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141049139	chr10:55338313-55338314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545645812	chr10:55338318-55338319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75251515	chr10:55338357-55338358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550678985	chr10:55338392-55338393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575515060	chr10:55338401-55338402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191933274	chr10:55338402-55338403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182906934	chr10:55338410-55338411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187756782	chr10:55338422-55338423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537849569	chr10:55338578-55338579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570499985	chr10:55338679-55338680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529220560	chr10:55338714-55338715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540818208	chr10:55338717-55338718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554672083	chr10:55338729-55338730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560711150	chr10:55338732-55338733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55337800-55338600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:55338000-55338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:55338000-55339800	Enhancers	Fetal Lung	lung
4	chr10:55338200-55338400	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:55338400-55339400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:55338600-55339000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:55338600-55339400	Enhancers	HUVEC	blood vessel

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