Variant report

Variant	esv5814
Chromosome Location	chr10:5958566-5958729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5958435-5958958	K562	blood:	n/a	n/a
2	POLR2A	chr10:5958482-5958678	K562	blood:	n/a	n/a
3	POLR2A	chr10:5958375-5959001	K562	blood:	n/a	n/a
4	POLR2A	chr10:5958536-5958823	K562	blood:	n/a	n/a
5	SPI1	chr10:5958450-5958646	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5957299..5960172-chr10:5961811..5965784,4	K562	blood:
2	chr10:5958041..5960183-chr10:5985968..5987908,2	K562	blood:
3	chr10:5953307..5956205-chr10:5958444..5961748,5	K562	blood:
4	chr10:5957022..5959868-chr10:5961811..5965784,4	K562	blood:
5	chr10:5930440..5932910-chr10:5957697..5960803,4	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO18	TF binding region
ENSG00000232807	chromatin interactions
ENSG00000134461	chromatin interactions
ENSG00000134452	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11591625	chr10:5958569-5958570	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs567819804	chr10:5958570-5958571	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs2761267	chr10:5958575-5958576	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs528821422	chr10:5958580-5958581	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs665364	chr10:5958616-5958617	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs28750073	chr10:5958632-5958633	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs112535177	chr10:5958634-5958635	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs665320	chr10:5958645-5958646	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs642219	chr10:5958652-5958653	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs141435811	chr10:5958666-5958667	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs56267828	chr10:5958667-5958668	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs7896276	chr10:5958695-5958696	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs550568830	chr10:5958716-5958717	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Gastrointestinal stromal cancer	20818650	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5933200-5977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:5935600-5962000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:5944000-5981600	Strong transcription	Fetal Intestine Small	intestine
4	chr10:5944600-5981200	Strong transcription	Fetal Thymus	thymus
5	chr10:5945800-5980800	Strong transcription	Thymus	Thymus
6	chr10:5947000-5980800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr10:5947000-5981600	Strong transcription	Placenta	Placenta
8	chr10:5947200-5981000	Strong transcription	Fetal Intestine Large	intestine
9	chr10:5947400-5970800	Strong transcription	Liver	Liver
10	chr10:5947400-5974400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:5947400-5981200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:5947600-5968400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:5947600-5968600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:5947600-5968600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:5947600-5975000	Strong transcription	Primary T cells from cord blood	blood
16	chr10:5947600-5981000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:5947600-5981000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:5947600-5981000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:5947600-5981000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:5947600-5981200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr10:5947800-5961000	Strong transcription	Fetal Brain Female	brain
22	chr10:5947800-5974000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:5947800-5974400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr10:5947800-5974600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:5948000-5960200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:5948000-5974600	Strong transcription	Fetal Lung	lung
27	chr10:5948000-5974800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:5948000-5975000	Strong transcription	Primary B cells from cord blood	blood
29	chr10:5948000-5975800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:5948200-5974000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:5948200-5974800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr10:5948400-5981000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:5948400-5981000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr10:5948600-5981000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr10:5948800-5974200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr10:5948800-5981000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:5948800-5981000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr10:5948800-5981600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:5949400-5970200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:5949600-5960600	Strong transcription	NHLF	lung
41	chr10:5949600-5975600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr10:5949800-5960800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:5949800-5967200	Strong transcription	Adipose Nuclei	Adipose
44	chr10:5949800-5973400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr10:5949800-5975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr10:5950000-5976400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:5950000-5980400	Strong transcription	Dnd41	blood
48	chr10:5950200-5975800	Strong transcription	Brain Germinal Matrix	brain
49	chr10:5950200-5981000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:5950600-5959800	Strong transcription	NHEK	skin

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