Variant report

Variant	esv3337317
Chromosome Location	chr10:380426-380708
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	chr10:378453..381890-chr10:383620..386364,3	MCF-7	breast:
2	chr10:372012..377385-chr10:378663..387362,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147395311	chr10:380471-380472	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536244521	chr10:380494-380495	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553067596	chr10:380538-380539	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370839029	chr10:380558-380559	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144007350	chr10:380565-380566	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113340594	chr10:380593-380594	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4506561	chr10:380594-380595	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143862610	chr10:380596-380597	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567512644	chr10:380649-380650	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559357038	chr10:380683-380684	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561233975	chr10:380694-380695	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:355400-382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:363800-382800	Weak transcription	Fetal Brain Male	brain
3	chr10:364600-382400	Weak transcription	Fetal Kidney	kidney
4	chr10:364600-383200	Weak transcription	Fetal Heart	heart
5	chr10:366200-380800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:370400-418200	Weak transcription	Small Intestine	intestine
7	chr10:370800-382600	Weak transcription	Spleen	Spleen
8	chr10:372800-386800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:373000-382800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:373200-381800	Weak transcription	Placenta	Placenta
11	chr10:373200-382600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:373200-382600	Weak transcription	Gastric	stomach
13	chr10:373600-381400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:374200-382600	Weak transcription	Aorta	Aorta
15	chr10:375600-386600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:375800-380800	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:375800-381000	Weak transcription	Brain Germinal Matrix	brain
18	chr10:375800-381200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:375800-381200	Weak transcription	Left Ventricle	heart
20	chr10:375800-381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:375800-381400	Weak transcription	Adipose Nuclei	Adipose
22	chr10:375800-381400	Weak transcription	Esophagus	oesophagus
23	chr10:375800-381400	Weak transcription	Fetal Intestine Small	intestine
24	chr10:375800-381400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:375800-381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:375800-381600	Weak transcription	Fetal Lung	lung
27	chr10:375800-382000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:375800-382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:375800-382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:375800-382800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:375800-382800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:375800-382800	Weak transcription	Lung	lung
33	chr10:375800-383000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:375800-383000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:375800-383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:375800-383000	Weak transcription	Right Ventricle	heart
37	chr10:375800-383200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:375800-383200	Weak transcription	Ovary	ovary
39	chr10:375800-384600	Weak transcription	Colonic Mucosa	Colon
40	chr10:375800-402200	Weak transcription	Psoas Muscle	Psoas
41	chr10:375800-418800	Weak transcription	Right Atrium	heart
42	chr10:375800-419800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:376000-380800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:376000-381200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:376000-381200	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:376000-382000	Weak transcription	Fetal Intestine Large	intestine
47	chr10:376000-382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:376000-382200	Weak transcription	HSMMtube	muscle
49	chr10:376000-382600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:376000-382600	Weak transcription	Liver	Liver

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