Variant report

Variant	esv1950394
Chromosome Location	chr20:25540403-25540404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78523201	chr20:25540403-25540404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	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
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25517800-25554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:25521600-25565000	Weak transcription	Aorta	Aorta
3	chr20:25524400-25565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:25526400-25543600	Weak transcription	Fetal Brain Female	brain
5	chr20:25530600-25542800	Weak transcription	HSMM	muscle
6	chr20:25531000-25554000	Weak transcription	Osteobl	bone
7	chr20:25531200-25544400	Weak transcription	Fetal Brain Male	brain
8	chr20:25531200-25559600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:25532600-25551600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr20:25532600-25559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:25532600-25565000	Weak transcription	HSMMtube	muscle
12	chr20:25532800-25544400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:25533000-25543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr20:25533400-25544200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:25533400-25546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr20:25533400-25549600	Weak transcription	Fetal Intestine Small	intestine
17	chr20:25534800-25544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:25534800-25550000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:25534800-25551800	Weak transcription	HUVEC	blood vessel
20	chr20:25534800-25557600	Weak transcription	Pancreas	Pancrea
21	chr20:25534800-25561400	Weak transcription	Right Atrium	heart
22	chr20:25535000-25543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr20:25535000-25543400	Weak transcription	Fetal Muscle Leg	muscle
24	chr20:25535000-25543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:25535000-25543600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr20:25535000-25543800	Weak transcription	Fetal Lung	lung
27	chr20:25535000-25545400	Weak transcription	Thymus	Thymus
28	chr20:25535000-25546400	Weak transcription	Ovary	ovary
29	chr20:25535000-25550000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:25535000-25550200	Weak transcription	Gastric	stomach
31	chr20:25535000-25554400	Weak transcription	Brain Anterior Caudate	brain
32	chr20:25535000-25560000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:25535000-25561400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr20:25535200-25542000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr20:25535200-25546000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr20:25535600-25543600	Weak transcription	Brain Germinal Matrix	brain
37	chr20:25535800-25541400	Strong transcription	Fetal Stomach	stomach
38	chr20:25535800-25565000	Weak transcription	Fetal Kidney	kidney
39	chr20:25536200-25541400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:25536800-25541800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr20:25537200-25540800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:25537400-25541600	Strong transcription	A549	lung
43	chr20:25538000-25543800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr20:25539200-25540800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr20:25539200-25540800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr20:25539200-25541200	Strong transcription	Dnd41	blood
47	chr20:25539400-25540800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr20:25539600-25543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr20:25539800-25541000	Strong transcription	HepG2	liver
50	chr20:25539800-25543000	Weak transcription	H1 Cell Line	embryonic stem cell

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