Variant report

Variant	esv1295697
Chromosome Location	chr20:25438231-25438232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 56 )

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	rs11478040	chr20:25438231-25438232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397756962	chr20:25438232-25438233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25402800-25445200	Weak transcription	NHDF-Ad	bronchial
2	chr20:25412600-25440200	Weak transcription	Placenta	Placenta
3	chr20:25418200-25445200	Weak transcription	HSMM	muscle
4	chr20:25418800-25439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:25425600-25453200	Weak transcription	Small Intestine	intestine
6	chr20:25426400-25450200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:25427200-25488200	Weak transcription	Stomach Mucosa	stomach
8	chr20:25427400-25442400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr20:25427600-25442200	Weak transcription	GM12878-XiMat	blood
10	chr20:25427600-25446200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr20:25428600-25438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:25429400-25463200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:25429600-25441000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr20:25429800-25458800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:25430200-25484400	Strong transcription	Fetal Stomach	stomach
16	chr20:25430400-25442000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr20:25431200-25447400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:25431800-25442000	Weak transcription	Brain Angular Gyrus	brain
19	chr20:25431800-25484200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr20:25432400-25440600	Weak transcription	Colonic Mucosa	Colon
21	chr20:25432400-25450400	Strong transcription	Thymus	Thymus
22	chr20:25432600-25452400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr20:25433200-25444200	Weak transcription	Fetal Brain Male	brain
24	chr20:25433200-25445200	Weak transcription	Right Atrium	heart
25	chr20:25434000-25447800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr20:25434200-25447400	Weak transcription	HUVEC	blood vessel
27	chr20:25434400-25439000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:25434400-25460800	Weak transcription	Fetal Heart	heart
29	chr20:25435400-25438600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr20:25435600-25438400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr20:25435600-25459000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr20:25435800-25450200	Weak transcription	Fetal Kidney	kidney
33	chr20:25435800-25465600	Weak transcription	NH-A	brain
34	chr20:25436000-25438600	Weak transcription	Pancreas	Pancrea
35	chr20:25436000-25439600	Weak transcription	Right Ventricle	heart
36	chr20:25436000-25445200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr20:25436000-25448200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr20:25436200-25439000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:25436200-25441200	Weak transcription	Brain Anterior Caudate	brain
40	chr20:25436200-25441400	Weak transcription	Esophagus	oesophagus
41	chr20:25436200-25441600	Weak transcription	Lung	lung
42	chr20:25436200-25441600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr20:25436200-25446000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr20:25436200-25447600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr20:25436200-25465200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr20:25436400-25438400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr20:25436400-25438400	Weak transcription	Ovary	ovary
48	chr20:25436400-25438600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:25436400-25438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:25436400-25438600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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