Variant report

Variant	esv2142352
Chromosome Location	chr10:4706977-4706978
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
2	chr10:4705429..4707304-chr10:4750266..4753221,2	MCF-7	breast:
3	chr10:4704028..4707695-chr10:4796284..4798657,3	MCF-7	breast:
4	chr10:4704812..4707104-chr10:4757845..4760690,2	MCF-7	breast:
5	chr10:4703699..4707665-chr10:4763385..4769263,9	MCF-7	breast:
6	chr10:4694173..4696454-chr10:4704960..4707093,2	K562	blood:
7	chr10:4702078..4707095-chr10:4773802..4779822,17	MCF-7	breast:
8	chr10:4704371..4707713-chr10:4716720..4722125,6	MCF-7	breast:
9	chr10:4701367..4707262-chr10:4764196..4772300,19	MCF-7	breast:
10	chr10:4703565..4707087-chr10:4805209..4809008,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231298	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 54 )

No data

Variant related diseases (count:54)

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
Breast cancer	21611746	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4702600-4708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:4703600-4707000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:4703600-4707000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr10:4703600-4708200	Enhancers	NHDF-Ad	bronchial
5	chr10:4703600-4708400	Enhancers	Fetal Intestine Small	intestine
6	chr10:4703800-4707000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr10:4703800-4707000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr10:4703800-4707200	Enhancers	Fetal Intestine Large	intestine
9	chr10:4703800-4708000	Enhancers	Dnd41	blood
10	chr10:4704000-4707000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:4704000-4707600	Enhancers	HMEC	breast
12	chr10:4704200-4707800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:4704200-4708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:4704200-4708600	Enhancers	Stomach Mucosa	stomach
15	chr10:4705000-4707800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:4705200-4708600	Enhancers	HUVEC	blood vessel
17	chr10:4705800-4707000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:4705800-4707800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:4705800-4708400	Enhancers	Fetal Heart	heart
20	chr10:4706000-4707200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:4706000-4707600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:4706200-4708000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:4706200-4708000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:4706200-4708000	Enhancers	HSMM	muscle
25	chr10:4706200-4708400	Enhancers	NHEK	skin
26	chr10:4706400-4707400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr10:4706400-4707400	Enhancers	A549	lung
28	chr10:4706600-4707600	Weak transcription	Adipose Nuclei	Adipose
29	chr10:4706800-4707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:4706800-4707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:4706800-4707000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:4706800-4707000	Enhancers	Aorta	Aorta
33	chr10:4706800-4707000	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:4706800-4707000	Enhancers	Fetal Muscle Leg	muscle
35	chr10:4706800-4707000	Enhancers	Left Ventricle	heart
36	chr10:4706800-4707000	Enhancers	Ovary	ovary
37	chr10:4706800-4707200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:4706800-4707200	Enhancers	Psoas Muscle	Psoas
39	chr10:4706800-4707200	Weak transcription	Osteobl	bone

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