Variant report

Variant	nsv521751
Chromosome Location	chr20:23324651-23325047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23028682..23030342-chr20:23324777..23326574,2	MCF-7	breast:
2	chr20:23301249..23304365-chr20:23324311..23328309,3	K562	blood:
3	chr20:23130043..23132232-chr20:23322579..23325341,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 58 )

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	rs2066451	chr20:23324651-23324652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555773237	chr20:23324675-23324676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78279601	chr20:23324678-23324679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143747714	chr20:23324679-23324680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569823202	chr20:23324729-23324730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188742059	chr20:23324732-23324733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548949153	chr20:23324782-23324783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192579776	chr20:23324810-23324811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7345891	chr20:23324814-23324815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185019636	chr20:23324851-23324852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544644252	chr20:23324868-23324869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557719832	chr20:23324875-23324876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571170768	chr20:23324900-23324901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537319677	chr20:23324908-23324909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562984897	chr20:23324909-23324910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372042391	chr20:23324925-23324926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148144117	chr20:23324959-23324960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73901808	chr20:23325001-23325002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141998832	chr20:23325012-23325013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6048740	chr20:23325047-23325048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:58)

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
Prostate cancer	18632612	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
small cell lung cancer	17426248	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23321800-23329400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr20:23324600-23325400	Enhancers	HepG2	liver
3	chr20:23324600-23326000	Enhancers	Fetal Heart	heart
4	chr20:23324800-23325600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:23324800-23326000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:23325000-23325200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:23325000-23326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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