Variant report

Variant	esv3386750
Chromosome Location	chr20:11125875-11126447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558675608	chr20:11125887-11125888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112134738	chr20:11125925-11125926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73255581	chr20:11125934-11125935	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541089912	chr20:11125951-11125952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138977546	chr20:11125956-11125957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561717452	chr20:11125980-11125981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530080422	chr20:11126036-11126037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116797126	chr20:11126053-11126054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12481309	chr20:11126060-11126061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559993986	chr20:11126155-11126156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376607710	chr20:11126182-11126183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531452279	chr20:11126183-11126184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76153089	chr20:11126229-11126230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79504062	chr20:11126231-11126232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187060307	chr20:11126258-11126259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571424395	chr20:11126261-11126262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527399129	chr20:11126308-11126309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547487906	chr20:11126369-11126370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564394903	chr20:11126382-11126383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149427605	chr20:11126383-11126384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374911972	chr20:11126384-11126385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73606428	chr20:11126409-11126410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374863427	chr20:11126428-11126429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11125200-11126800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:11125400-11126200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:11125400-11126200	Enhancers	NHDF-Ad	bronchial
4	chr20:11125400-11126800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:11125400-11134200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:11125600-11126200	Weak transcription	Fetal Muscle Leg	muscle
7	chr20:11125600-11126600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:11126200-11126400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links