Variant report

Variant	esv1441533
Chromosome Location	chr10:5591321-5591329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5590163..5594025-chr10:5603486..5606859,3	K562	blood:
2	chr10:5590969..5593951-chr10:5606368..5608078,2	K562	blood:
3	chr10:5585944..5594625-chr10:5661457..5667151,17	MCF-7	breast:
4	chr10:5591215..5593719-chr10:5599624..5602404,2	K562	blood:
5	chr10:5587548..5591449-chr10:5726365..5728236,4	MCF-7	breast:
6	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
7	chr10:5583637..5601494-chr10:5650599..5672411,88	MCF-7	breast:
8	chr10:5509879..5512674-chr10:5590526..5592365,2	K562	blood:
9	chr10:5585544..5594047-chr10:5703661..5709987,18	MCF-7	breast:
10	chr10:5586583..5591953-chr10:5698330..5703488,13	MCF-7	breast:
11	chr10:5586562..5592727-chr10:5636153..5640876,13	MCF-7	breast:
12	chr10:5580025..5582244-chr10:5589635..5591706,2	K562	blood:
13	chr10:5520027..5522501-chr10:5590798..5592556,2	K562	blood:
14	chr10:5485039..5496687-chr10:5584772..5598184,85	MCF-7	breast:
15	chr10:5585149..5591741-chr10:5652577..5661008,17	MCF-7	breast:
16	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
17	chr10:5589713..5592191-chr10:5816215..5819023,2	MCF-7	breast:
18	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:
19	chr10:5520840..5523317-chr10:5589308..5592399,3	K562	blood:
20	chr10:5589141..5591832-chr10:5607489..5609696,2	MCF-7	breast:
21	chr10:5580109..5581869-chr10:5591078..5593322,2	K562	blood:
22	chr10:5527035..5528745-chr10:5588674..5591554,2	K562	blood:
23	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
24	chr10:5589894..5591628-chr10:5645906..5647922,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270427	chromatin interactions
ENSG00000228951	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000228685	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000242147	chromatin interactions
ENSG00000173848	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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	rs71388444	chr10:5591322-5591323	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
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
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
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
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5586200-5591400	Enhancers	Pancreas	Pancrea
2	chr10:5586200-5591400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr10:5586200-5596600	Enhancers	Placenta	Placenta
4	chr10:5586200-5597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:5586400-5591800	Enhancers	NHLF	lung
6	chr10:5586400-5592600	Enhancers	Fetal Lung	lung
7	chr10:5586400-5597800	Enhancers	Esophagus	oesophagus
8	chr10:5587000-5591800	Enhancers	Lung	lung
9	chr10:5587000-5592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:5587000-5597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:5587200-5591400	Flanking Active TSS	Hela-S3	cervix
12	chr10:5587200-5591800	Enhancers	NHDF-Ad	bronchial
13	chr10:5587200-5594200	Enhancers	Fetal Muscle Leg	muscle
14	chr10:5587400-5591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:5587400-5593200	Weak transcription	Thymus	Thymus
16	chr10:5587600-5596800	Enhancers	Fetal Thymus	thymus
17	chr10:5587800-5594400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:5588600-5592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:5588800-5591400	Flanking Active TSS	HepG2	liver
21	chr10:5589400-5597000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr10:5589600-5591400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:5589600-5591800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr10:5589600-5591800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr10:5589600-5593600	Enhancers	NHEK	skin
26	chr10:5589800-5593800	Enhancers	Primary T cells from cord blood	blood
27	chr10:5590000-5591400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr10:5590000-5591400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:5590000-5591600	Enhancers	Fetal Heart	heart
30	chr10:5590200-5591400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:5590200-5591400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr10:5590200-5591400	Enhancers	Right Atrium	heart
33	chr10:5590200-5591400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr10:5590200-5591400	Enhancers	HSMMtube	muscle
35	chr10:5590200-5591400	Flanking Active TSS	K562	blood
36	chr10:5590200-5591600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr10:5590200-5591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:5590200-5591800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:5590200-5591800	Enhancers	HUVEC	blood vessel
40	chr10:5590200-5591800	Enhancers	Osteobl	bone
41	chr10:5590200-5592000	Enhancers	Duodenum Mucosa	Duodenum
42	chr10:5590200-5592000	Enhancers	HSMM	muscle
43	chr10:5590200-5596800	Enhancers	HMEC	breast
44	chr10:5590200-5597200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr10:5590200-5599400	Enhancers	Fetal Intestine Small	intestine
46	chr10:5590200-5599800	Enhancers	Fetal Intestine Large	intestine
47	chr10:5590400-5591400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:5590400-5591800	Enhancers	Gastric	stomach
49	chr10:5590400-5594000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:5590400-5596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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