Variant report

Variant	esv3352661
Chromosome Location	chr10:6603858-6604054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534048124	chr10:6603898-6603899	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549525795	chr10:6603907-6603908	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10796268	chr10:6603917-6603918	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs369936642	chr10:6604001-6604002	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186437282	chr10:6604016-6604017	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs75378631	chr10:6604044-6604045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553522903	chr10:6604050-6604051	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6587800-6604200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:6595400-6605000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr10:6598000-6604000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:6598000-6605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:6598000-6605200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:6598000-6605200	Weak transcription	Lung	lung
7	chr10:6598000-6605800	Weak transcription	Spleen	Spleen
8	chr10:6598000-6608000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:6598000-6612000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:6598600-6606800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:6601000-6604200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:6601000-6605200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr10:6601200-6604800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr10:6601400-6604000	Weak transcription	Thymus	Thymus
15	chr10:6601400-6605000	Weak transcription	Psoas Muscle	Psoas
16	chr10:6602000-6604400	Genic enhancers	Fetal Thymus	thymus
17	chr10:6602200-6604000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:6602400-6604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:6602400-6604200	Weak transcription	Dnd41	blood
20	chr10:6602400-6604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:6602400-6605200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:6602400-6605200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:6602600-6604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:6602600-6605000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:6603200-6604600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:6603200-6605000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr10:6603200-6610200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:6603400-6604800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr10:6603400-6605600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:6603600-6604000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:6603600-6604600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr10:6603600-6605000	Enhancers	Primary hematopoietic stem cells	blood
33	chr10:6603600-6605000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:6603600-6605000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr10:6603600-6605200	Enhancers	Primary T cells from cord blood	blood
36	chr10:6603600-6608400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr10:6603600-6608800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:6603800-6604200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:6603800-6605400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:6603800-6606600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr10:6604000-6604400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:6604000-6604600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:6604000-6604800	Enhancers	K562	blood
44	chr10:6604000-6605000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr10:6604000-6605600	Weak transcription	Fetal Intestine Small	intestine
46	chr10:6604000-6606600	Enhancers	Duodenum Mucosa	Duodenum
47	chr10:6604000-6607800	Enhancers	Thymus	Thymus
48	chr10:6604000-6608600	Enhancers	Primary neutrophils fromperipheralblood	blood

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