Variant report

Variant	esv3367802
Chromosome Location	chr20:22813369-22813851
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	chr20:22813063..22815062-chr20:22900022..22902722,2	MCF-7	breast:
2	chr20:22808583..22810222-chr20:22813273..22814828,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541291831	chr20:22813419-22813420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545088614	chr20:22813434-22813435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375048643	chr20:22813479-22813480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563487022	chr20:22813492-22813493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568077348	chr20:22813537-22813538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369420948	chr20:22813538-22813539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6137763	chr20:22813563-22813564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61567760	chr20:22813574-22813575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571081982	chr20:22813609-22813610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185029880	chr20:22813618-22813619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556592112	chr20:22813636-22813637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148281432	chr20:22813661-22813662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56000393	chr20:22813686-22813687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560034994	chr20:22813710-22813711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142931839	chr20:22813713-22813714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58793559	chr20:22813715-22813716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555865437	chr20:22813722-22813723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572473182	chr20:22813740-22813741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540377102	chr20:22813741-22813742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560100163	chr20:22813814-22813815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56998281	chr20:22813832-22813833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141524512	chr20:22813835-22813836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22806200-22814000	Weak transcription	A549	lung
2	chr20:22808800-22814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr20:22809000-22813400	Weak transcription	K562	blood
4	chr20:22809000-22816000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:22809400-22816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:22809600-22814400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr20:22809600-22816200	Weak transcription	NHEK	skin
8	chr20:22810200-22816000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:22813200-22815400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:22813400-22814200	Enhancers	K562	blood

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