Variant report

Variant	esv3412027
Chromosome Location	chr20:24087324-24087558
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	chr20:24087517..24089373-chr20:24093201..24095054,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537959669	chr20:24087330-24087331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6138210	chr20:24087364-24087365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538427738	chr20:24087373-24087374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558694242	chr20:24087384-24087385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531015985	chr20:24087431-24087432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190530661	chr20:24087468-24087469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183017222	chr20:24087504-24087505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6036650	chr20:24087507-24087508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188643491	chr20:24087513-24087514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543053938	chr20:24087531-24087532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559556737	chr20:24087533-24087534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24082600-24088000	Enhancers	HUVEC	blood vessel
2	chr20:24083400-24096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24085200-24087400	Weak transcription	Liver	Liver
4	chr20:24085800-24087400	Enhancers	NHEK	skin
5	chr20:24086000-24087400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:24086000-24087400	Enhancers	NH-A	brain
7	chr20:24086000-24087400	Enhancers	Osteobl	bone
8	chr20:24086200-24087400	Enhancers	HMEC	breast
9	chr20:24086200-24087600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:24086200-24088000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:24086600-24087400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:24087000-24088000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:24087400-24088000	Enhancers	Liver	Liver
14	chr20:24087400-24089200	Weak transcription	Osteobl	bone
15	chr20:24087400-24089400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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