Variant report

Variant	esv3418936
Chromosome Location	chr10:59393805-59394287
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	chr10:59383697..59386334-chr10:59392367..59395214,2	MCF-7	breast:
2	chr10:59394054..59396834-chr10:59398452..59401323,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561042901	chr10:59393852-59393853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189055672	chr10:59393863-59393864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193138387	chr10:59393966-59393967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567924619	chr10:59393969-59393970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546365928	chr10:59393980-59393981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565033007	chr10:59393981-59393982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72799969	chr10:59394018-59394019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10826094	chr10:59394044-59394045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566148251	chr10:59394051-59394052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371676504	chr10:59394052-59394053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527673603	chr10:59394129-59394130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7900524	chr10:59394152-59394153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185109446	chr10:59394216-59394217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376188327	chr10:59394271-59394272	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
Urothelial carcinoma	21177765	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59390600-59397000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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