Variant report

Variant	esv1004027
Chromosome Location	chr10:5903860-5903870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5903402..5905306-chr10:5930976..5933543,3	MCF-7	breast:
2	chr10:5853575..5857221-chr10:5900529..5905112,5	MCF-7	breast:
3	chr10:5853453..5856522-chr10:5901378..5904221,3	K562	blood:

Variant related genes	Relation type
ENSG00000134461	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000272764	chromatin interactions
ENSG00000057608	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201502478	chr10:5903860-5903861	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs71388490	chr10:5903861-5903862	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 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
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
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5888800-5904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:5894600-5908600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:5894600-5908600	Weak transcription	K562	blood
4	chr10:5894600-5916800	Weak transcription	Spleen	Spleen
5	chr10:5896200-5912200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:5896400-5918200	Weak transcription	Fetal Lung	lung
7	chr10:5899000-5904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:5899800-5904200	Weak transcription	Ovary	ovary
9	chr10:5899800-5905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:5900000-5904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:5900000-5916600	Weak transcription	Pancreas	Pancrea
12	chr10:5900400-5916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:5900600-5916200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:5900800-5910600	Weak transcription	Brain Germinal Matrix	brain
15	chr10:5901000-5904200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:5901000-5916600	Weak transcription	Gastric	stomach
17	chr10:5901200-5904200	Weak transcription	Brain Angular Gyrus	brain
18	chr10:5901200-5918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:5901400-5905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:5901400-5915200	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:5901600-5904200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:5901600-5912600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:5901600-5915600	Weak transcription	Brain Anterior Caudate	brain
24	chr10:5901800-5904200	Weak transcription	Fetal Intestine Small	intestine
25	chr10:5901800-5910800	Weak transcription	Fetal Brain Female	brain
26	chr10:5902000-5904000	Enhancers	GM12878-XiMat	blood
27	chr10:5902000-5904800	Enhancers	Placenta	Placenta
28	chr10:5902200-5904600	Enhancers	NHDF-Ad	bronchial
29	chr10:5902200-5905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:5902200-5912600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:5902400-5904400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:5902400-5905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr10:5902400-5908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:5902400-5918200	Weak transcription	Primary T cells from cord blood	blood
35	chr10:5902600-5904600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:5902600-5910200	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:5902800-5916200	Weak transcription	Fetal Intestine Large	intestine
38	chr10:5902800-5916600	Weak transcription	Brain Substantia Nigra	brain
39	chr10:5902800-5918000	Weak transcription	Lung	lung
40	chr10:5903000-5904400	Enhancers	HSMM	muscle
41	chr10:5903000-5904600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:5903000-5905200	Enhancers	HepG2	liver
43	chr10:5903000-5912400	Weak transcription	Fetal Heart	heart
44	chr10:5903000-5915400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:5903200-5904400	Enhancers	HUVEC	blood vessel
46	chr10:5903400-5904200	Weak transcription	Thymus	Thymus
47	chr10:5903400-5911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:5903400-5918200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:5903400-5925000	Weak transcription	Fetal Kidney	kidney
50	chr10:5903600-5904200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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