Variant report

Variant	esv2314547
Chromosome Location	chr20:24427741-24428191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77933734	chr20:24427748-24427749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6049698	chr20:24427813-24427814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375324125	chr20:24427833-24427834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184084781	chr20:24427840-24427841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187715825	chr20:24427845-24427846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6036798	chr20:24427873-24427874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536549135	chr20:24427931-24427932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549342367	chr20:24427987-24427988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536818844	chr20:24428001-24428002	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371596553	chr20:24428050-24428051	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375019786	chr20:24428082-24428083	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559549191	chr20:24428083-24428084	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143721863	chr20:24428084-24428085	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6036799	chr20:24428118-24428119	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570880527	chr20:24428126-24428127	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192690475	chr20:24428165-24428166	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74833569	chr20:24428167-24428168	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73099561	chr20:24428168-24428169	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75361285	chr20:24428186-24428187	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572664539	chr20:24428187-24428188	Bivalent Enhancer 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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24425400-24432200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:24425800-24429800	Enhancers	Fetal Thymus	thymus
3	chr20:24426400-24427800	Weak transcription	Thymus	Thymus
4	chr20:24426600-24427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:24426600-24435800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:24427200-24428000	Enhancers	Brain Substantia Nigra	brain
7	chr20:24427200-24428000	Weak transcription	Spleen	Spleen
8	chr20:24427200-24428400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:24427200-24432200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr20:24427400-24427800	Weak transcription	Brain Anterior Caudate	brain
11	chr20:24427400-24429400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:24427400-24436600	Weak transcription	Brain Hippocampus Middle	brain
13	chr20:24427600-24428000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:24427600-24429000	Enhancers	Dnd41	blood
15	chr20:24427800-24428000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr20:24427800-24428200	Enhancers	Brain Anterior Caudate	brain
17	chr20:24427800-24429600	Enhancers	Thymus	Thymus
18	chr20:24428000-24428200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr20:24428000-24428200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:24428000-24428200	Enhancers	Spleen	Spleen
21	chr20:24428000-24428400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr20:24428000-24428800	Weak transcription	Brain Substantia Nigra	brain

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