Variant report

Variant	esv1145428
Chromosome Location	chr20:52405843-52405845
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52404639..52407466-chr20:55822538..55824308,2	MCF-7	breast:
2	chr17:59474142..59479097-chr20:52403146..52407414,5	MCF-7	breast:
3	chr17:58754040..58755910-chr20:52405124..52406880,2	MCF-7	breast:
4	chr17:56703908..56706201-chr20:52403227..52406128,2	MCF-7	breast:
5	chr1:243512538..243513041-chr20:52405648..52406496,2	MCF-7	breast:
6	chr20:52404288..52406884-chr20:52421776..52423435,2	K562	blood:
7	chr20:52405785..52406558-chr20:52486542..52487158,2	MCF-7	breast:
8	chr15:52262547..52265504-chr20:52405082..52406713,2	MCF-7	breast:
9	chr20:52403779..52405878-chr20:52738578..52741634,3	MCF-7	breast:
10	chr20:46352698..46355620-chr20:52405700..52407569,2	MCF-7	breast:
11	chr20:52404657..52409301-chr20:55839674..55843108,6	MCF-7	breast:
12	chr20:52403941..52405869-chr8:146051670..146054549,2	MCF-7	breast:
13	chr20:52404454..52406653-chr20:60640164..60641703,2	MCF-7	breast:
14	chr2:39345656..39348295-chr20:52403967..52406506,2	MCF-7	breast:
15	chr1:114471357..114473665-chr20:52405177..52406948,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115904	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000166477	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000147789	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000141376	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 81 )

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	rs35818503	chr20:52405844-52405845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs58548841	chr20:52405845-52405846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52402000-52407600	Enhancers	Placenta	Placenta
2	chr20:52402200-52409400	Weak transcription	Esophagus	oesophagus
3	chr20:52403000-52406200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:52403400-52406000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr20:52403400-52406200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr20:52403400-52407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:52403400-52407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:52403600-52406000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:52403600-52406200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr20:52403600-52406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:52403600-52407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:52403800-52406000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:52403800-52406000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr20:52403800-52406000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr20:52403800-52406000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:52403800-52406200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr20:52403800-52406200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:52403800-52406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:52403800-52406200	Weak transcription	Fetal Lung	lung
20	chr20:52403800-52406200	Weak transcription	K562	blood
21	chr20:52403800-52406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:52403800-52407400	Weak transcription	Stomach Mucosa	stomach
23	chr20:52403800-52409400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:52403800-52409600	Weak transcription	Pancreas	Pancrea
25	chr20:52404000-52406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr20:52404000-52406600	Enhancers	HepG2	liver
27	chr20:52404200-52406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:52404200-52406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:52404200-52407400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr20:52404200-52414400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr20:52404200-52415600	Weak transcription	Fetal Intestine Large	intestine
32	chr20:52404400-52406000	Weak transcription	HUVEC	blood vessel
33	chr20:52404400-52406200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:52404400-52407400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr20:52404400-52407400	Weak transcription	Fetal Stomach	stomach
36	chr20:52404600-52406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52405000-52407400	Weak transcription	Fetal Intestine Small	intestine
38	chr20:52405800-52406400	Enhancers	GM12878-XiMat	blood
39	chr20:52405800-52406600	Flanking Active TSS	A549	lung
40	chr20:52405800-52407400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:52405800-52407400	Enhancers	NHEK	skin
42	chr20:52405800-52407800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr20:52405800-52407800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr20:52405800-52407800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:52405800-52408000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr20:52405800-52408000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr20:52405800-52408000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr20:52405800-52408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:52405800-52408000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr20:52405800-52408000	Enhancers	HMEC	breast

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