Variant report

Variant	esv2381324
Chromosome Location	chr20:10907671-10907672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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	rs76847187	chr20:10907671-10907672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10900600-10908000	Weak transcription	Right Atrium	heart
2	chr20:10901000-10907800	Weak transcription	Ovary	ovary
3	chr20:10901000-10920200	Weak transcription	Aorta	Aorta
4	chr20:10904000-10909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:10904200-10909000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr20:10904200-10909000	Weak transcription	Adipose Nuclei	Adipose
7	chr20:10904200-10909200	Weak transcription	Fetal Muscle Leg	muscle
8	chr20:10904200-10909400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr20:10905000-10908600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:10905000-10909800	Weak transcription	Psoas Muscle	Psoas
11	chr20:10905800-10908200	Weak transcription	HSMM	muscle
12	chr20:10906000-10907800	Weak transcription	Fetal Lung	lung
13	chr20:10906000-10907800	Weak transcription	Pancreas	Pancrea
14	chr20:10906000-10908400	Weak transcription	NH-A	brain
15	chr20:10906000-10908800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:10906200-10907800	Weak transcription	HSMMtube	muscle
17	chr20:10906200-10909000	Weak transcription	Fetal Stomach	stomach
18	chr20:10906200-10909200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:10906400-10909000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:10906400-10909000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:10906800-10908000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:10906800-10908000	Weak transcription	Spleen	Spleen
23	chr20:10906800-10908000	Weak transcription	Osteobl	bone
24	chr20:10906800-10908200	Weak transcription	HMEC	breast
25	chr20:10906800-10908600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr20:10906800-10908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:10906800-10909000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:10906800-10909000	Weak transcription	NHLF	lung
29	chr20:10906800-10914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:10907000-10908600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:10907400-10908000	Weak transcription	HUVEC	blood vessel
32	chr20:10907400-10908200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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