Variant report

Variant	esv3315230
Chromosome Location	chr10:57383754-57384253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187613508	chr10:57383758-57383759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530115031	chr10:57383763-57383764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111385032	chr10:57383799-57383800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2463944	chr10:57383801-57383802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192579432	chr10:57383813-57383814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552334555	chr10:57383844-57383845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184859287	chr10:57383879-57383880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537781646	chr10:57383896-57383897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554782456	chr10:57383933-57383934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376407687	chr10:57383948-57383949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568283835	chr10:57383973-57383974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369741376	chr10:57383995-57383996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533837385	chr10:57384005-57384006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386744058	chr10:57384013-57384014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2461903	chr10:57384014-57384015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545781701	chr10:57384022-57384023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544988990	chr10:57384061-57384062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565060706	chr10:57384116-57384117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112045447	chr10:57384125-57384126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112779047	chr10:57384151-57384152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115298961	chr10:57384171-57384172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34849218	chr10:57384230-57384231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386508292	chr10:57384252-57384253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57374000-57386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr10:57380000-57387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:57381400-57385400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:57381400-57387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:57384200-57387000	Weak transcription	H9 Cell Line	embryonic stem cell

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