Variant report

Variant	esv3342064
Chromosome Location	chr10:59387874-59388195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 61 )

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	rs4281416	chr10:59387880-59387881	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547349470	chr10:59387887-59387888	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375642500	chr10:59387894-59387895	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115391832	chr10:59387913-59387914	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12771957	chr10:59387933-59387934	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114591375	chr10:59387949-59387950	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542631968	chr10:59387962-59387963	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560676960	chr10:59387979-59387980	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531645462	chr10:59387981-59387982	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12772137	chr10:59387994-59387995	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571563395	chr10:59388032-59388033	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532377131	chr10:59388076-59388077	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374442987	chr10:59388092-59388093	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4501916	chr10:59388098-59388099	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186459978	chr10:59388108-59388109	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375662595	chr10:59388121-59388122	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191307403	chr10:59388134-59388135	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs180818509	chr10:59388162-59388163	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143479435	chr10:59388186-59388187	Active TSS Enhancers Flanking Active TSS	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59386000-59388000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:59386000-59388000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr10:59386200-59388000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:59386800-59388600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:59387000-59388000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr10:59387000-59389000	Enhancers	Brain Germinal Matrix	brain
7	chr10:59387400-59388400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr10:59387400-59388400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:59387400-59389000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:59387400-59389000	Enhancers	Liver	Liver
11	chr10:59387400-59389400	Enhancers	Fetal Intestine Large	intestine
12	chr10:59387600-59388000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:59387600-59388200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:59387600-59388400	Enhancers	Fetal Kidney	kidney
15	chr10:59387600-59388800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:59387600-59388800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:59387600-59388800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr10:59387600-59389000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr10:59387600-59389200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr10:59387800-59388400	Enhancers	HepG2	liver
21	chr10:59387800-59388600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:59387800-59388600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr10:59387800-59389000	Enhancers	Fetal Intestine Small	intestine
24	chr10:59388000-59388200	Enhancers	A549	lung
25	chr10:59388000-59388600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr10:59388000-59388600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr10:59388000-59388600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr10:59388000-59388800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr10:59388000-59388800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:59388000-59389000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr10:59388000-59389000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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