Variant report

Variant	esv3351449
Chromosome Location	chr20:23143814-23144120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:23144118-23144390	GM12878	blood:	n/a	chr20:23144135-23144143
2	POLR2A	chr20:23143780-23143815	MCF-7	breast:	n/a	n/a
3	RCOR1	chr20:23143782-23143858	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RNA5SP478	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148338314	chr20:23143824-23143825	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535795080	chr20:23143835-23143836	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549392273	chr20:23143847-23143848	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571480456	chr20:23143867-23143868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566098827	chr20:23143887-23143888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534722117	chr20:23143895-23143896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187887838	chr20:23143952-23143953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578144760	chr20:23143968-23143969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560240973	chr20:23143985-23143986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11697588	chr20:23144060-23144061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537501596	chr20:23144069-23144070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6083025	chr20:23144070-23144071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs6076033	chr20:23144098-23144099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116038290	chr20:23144102-23144103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr20:23133800-23144000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr20:23137600-23144800	Weak transcription	Ovary	ovary
4	chr20:23138400-23146400	Enhancers	Placenta	Placenta
5	chr20:23138600-23144000	Enhancers	Spleen	Spleen
6	chr20:23139400-23144000	Enhancers	Right Atrium	heart
7	chr20:23139400-23145200	Enhancers	Left Ventricle	heart
8	chr20:23139400-23146600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr20:23139800-23145200	Enhancers	Lung	lung
10	chr20:23139800-23146400	Enhancers	Fetal Muscle Leg	muscle
11	chr20:23139800-23146600	Enhancers	Stomach Mucosa	stomach
12	chr20:23140400-23146400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:23140400-23146600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr20:23140600-23146200	Enhancers	Colonic Mucosa	Colon
15	chr20:23141000-23144200	Enhancers	Adipose Nuclei	Adipose
16	chr20:23141000-23144400	Enhancers	Duodenum Mucosa	Duodenum
17	chr20:23141200-23144000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:23141200-23145400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:23141200-23146200	Enhancers	Fetal Muscle Trunk	muscle
20	chr20:23141400-23144000	Enhancers	K562	blood
21	chr20:23141400-23144800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr20:23141600-23144600	Weak transcription	Brain Hippocampus Middle	brain
23	chr20:23141600-23144800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr20:23142200-23146000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr20:23142200-23146400	Enhancers	Fetal Stomach	stomach
26	chr20:23142600-23144000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr20:23142800-23144000	Enhancers	Gastric	stomach
28	chr20:23142800-23144000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr20:23142800-23146800	Enhancers	Fetal Intestine Large	intestine
30	chr20:23142800-23148000	Weak transcription	NH-A	brain
31	chr20:23143000-23144800	Enhancers	Stomach Smooth Muscle	stomach
32	chr20:23143000-23148000	Weak transcription	NHDF-Ad	bronchial
33	chr20:23143200-23144400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr20:23143200-23144800	Weak transcription	Fetal Lung	lung
35	chr20:23143200-23147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:23143400-23145000	Weak transcription	Brain Germinal Matrix	brain
37	chr20:23143400-23146000	Weak transcription	Fetal Heart	heart
38	chr20:23143400-23146200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr20:23143400-23148000	Weak transcription	NHEK	skin
40	chr20:23143600-23144400	Weak transcription	Fetal Intestine Small	intestine
41	chr20:23143600-23145000	Enhancers	Small Intestine	intestine
42	chr20:23143800-23144000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr20:23143800-23144800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:23143800-23144800	Weak transcription	Right Ventricle	heart
45	chr20:23143800-23145000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr20:23143800-23145000	Weak transcription	Psoas Muscle	Psoas
47	chr20:23143800-23145600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr20:23143800-23146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr20:23143800-23146000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr20:23143800-23147400	Weak transcription	Esophagus	oesophagus

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