Variant report

Variant	esv3421387
Chromosome Location	chr20:904085-904308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:897191..899627-chr20:903602..905719,2	MCF-7	breast:
2	chr20:836809..839072-chr20:903298..905274,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59839174	chr20:904132-904133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373149648	chr20:904147-904148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113380688	chr20:904152-904153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59328012	chr20:904180-904181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562947039	chr20:904187-904188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531885988	chr20:904236-904237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542237948	chr20:904242-904243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6055880	chr20:904259-904260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527690346	chr20:904272-904273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6133588	chr20:904285-904286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146062640	chr20:904286-904287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188280563	chr20:904288-904289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148714324	chr20:904296-904297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
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
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
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897000-905000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr20:897400-954200	Weak transcription	Right Atrium	heart
3	chr20:903200-904400	Enhancers	Ovary	ovary
4	chr20:903200-906400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:903600-904800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:903800-904800	Weak transcription	Adipose Nuclei	Adipose
7	chr20:903800-905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:903800-905000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr20:904000-904400	Weak transcription	Monocytes-CD14+_RO01746	blood

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