Variant report

Variant	esv3391608
Chromosome Location	chr10:55086393-55087015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566905415	chr10:55086401-55086402	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189564038	chr10:55086417-55086418	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537066748	chr10:55086431-55086432	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182015856	chr10:55086435-55086436	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575531336	chr10:55086442-55086443	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185261616	chr10:55086482-55086483	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577070440	chr10:55086517-55086518	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373539056	chr10:55086550-55086551	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56198800	chr10:55086553-55086554	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112882809	chr10:55086652-55086653	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs55849044	chr10:55086671-55086672	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113728906	chr10:55086682-55086683	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546109296	chr10:55086704-55086705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142969790	chr10:55086726-55086727	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539901102	chr10:55086768-55086769	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61859779	chr10:55086879-55086880	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576902291	chr10:55086880-55086881	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs55643280	chr10:55086886-55086887	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546015776	chr10:55086903-55086904	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562698047	chr10:55086924-55086925	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531623099	chr10:55086938-55086939	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139680295	chr10:55086952-55086953	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190013062	chr10:55086964-55086965	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112279927	chr10:55086974-55086975	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181344495	chr10:55086977-55086978	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546739072	chr10:55087008-55087009	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144754040	chr10:55087009-55087010	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Dysmorphic features	21948486	CNVD
Epilepsy	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55077600-55094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:55085000-55092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55086000-55086800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:55086000-55087000	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr10:55086200-55087000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:55086800-55087200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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