Variant report

Variant	esv2475066
Chromosome Location	chr10:461913-461913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:460256..464183-chr10:464558..467613,6	MCF-7	breast:
2	chr10:461634..462240-chr10:481924..482823,2	MCF-7	breast:
3	chr10:461824..462560-chr10:834643..835579,2	MCF-7	breast:
4	chr10:414936..417865-chr10:461204..463108,2	MCF-7	breast:
5	chr10:461779..462665-chr10:840464..841138,2	MCF-7	breast:
6	chr10:461373..464644-chr10:474177..477326,3	MCF-7	breast:
7	chr10:460205..463295-chr10:478508..482551,4	MCF-7	breast:
8	chr10:461858..462407-chr10:481646..482609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239822	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 54 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66682704	chr10:461913-461914	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
2	chr10:423600-480200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr10:436600-480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:436600-521200	Weak transcription	HepG2	liver
5	chr10:436800-468000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:436800-469000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:441600-466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
9	chr10:444200-466000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:448200-462200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:449600-469200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr10:450600-469800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:450600-469800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:452000-466200	Strong transcription	Osteobl	bone
16	chr10:453200-462200	Strong transcription	Liver	Liver
17	chr10:453400-485600	Weak transcription	Fetal Kidney	kidney
18	chr10:453600-468200	Weak transcription	Spleen	Spleen
19	chr10:453600-468400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:453600-469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:454200-462800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:454200-469800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:454800-465800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:455000-471800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:455000-480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr10:455800-465200	Weak transcription	Pancreas	Pancrea
27	chr10:455800-468000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:456000-496600	Weak transcription	Fetal Heart	heart
29	chr10:456200-483200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:456600-469800	Strong transcription	Fetal Stomach	stomach
31	chr10:457600-466600	Strong transcription	Ovary	ovary
32	chr10:458000-469800	Strong transcription	Adipose Nuclei	Adipose
33	chr10:458200-464400	Weak transcription	NHDF-Ad	bronchial
34	chr10:458400-462400	Strong transcription	Right Ventricle	heart
35	chr10:458400-468800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:458800-463400	Strong transcription	Brain Germinal Matrix	brain
37	chr10:458800-464400	Weak transcription	Fetal Brain Male	brain
38	chr10:458800-469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:458800-470800	Weak transcription	HSMM	muscle
40	chr10:458800-471200	Weak transcription	NH-A	brain
41	chr10:459000-462200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:459000-462400	Strong transcription	Fetal Lung	lung
43	chr10:459000-463600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr10:459200-462000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:459200-470000	Weak transcription	Small Intestine	intestine
46	chr10:459600-462200	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr10:459600-465200	Strong transcription	Brain Hippocampus Middle	brain
48	chr10:459600-466800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:459800-462000	Strong transcription	HSMMtube	muscle
50	chr10:459800-466800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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