Variant report

Variant	esv3425371
Chromosome Location	chr20:11001202-11003250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74597879	chr20:11001202-11001203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536308664	chr20:11001314-11001315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559503656	chr20:11001315-11001316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140148249	chr20:11001324-11001325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553545763	chr20:11001407-11001408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547889948	chr20:11001419-11001420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201821222	chr20:11001424-11001425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11906096	chr20:11001441-11001442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190529923	chr20:11001447-11001448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6104692	chr20:11001454-11001455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6108805	chr20:11001484-11001485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2209724	chr20:11001502-11001503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374107331	chr20:11001517-11001518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182187591	chr20:11001536-11001537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570746702	chr20:11001541-11001542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539661125	chr20:11001544-11001545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553123391	chr20:11001563-11001564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559324839	chr20:11001596-11001597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186816491	chr20:11001615-11001616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367684549	chr20:11001638-11001639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555517506	chr20:11001669-11001670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575591233	chr20:11001706-11001707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543378521	chr20:11001729-11001730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191593037	chr20:11001761-11001762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577172034	chr20:11001764-11001765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546040155	chr20:11001822-11001823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34111247	chr20:11001826-11001827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6033011	chr20:11001875-11001876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55713654	chr20:11001953-11001954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544232835	chr20:11001974-11001975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57207967	chr20:11001977-11001978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560684779	chr20:11001986-11001987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200534427	chr20:11002037-11002038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530512491	chr20:11002041-11002042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6134105	chr20:11002043-11002044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554009905	chr20:11002055-11002056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57623124	chr20:11002056-11002057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57376308	chr20:11002063-11002064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149881366	chr20:11002065-11002066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200438722	chr20:11002070-11002071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60746536	chr20:11002080-11002081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58687224	chr20:11002088-11002089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60837205	chr20:11002093-11002094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59835051	chr20:11002100-11002101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60677897	chr20:11002108-11002109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56684389	chr20:11002113-11002114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558480398	chr20:11002116-11002117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57723581	chr20:11002118-11002119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570832118	chr20:11002133-11002134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533401165	chr20:11002153-11002154	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10988400-11015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:10996400-11007200	Weak transcription	Pancreas	Pancrea
3	chr20:11001000-11001400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:11001000-11004400	Weak transcription	Fetal Lung	lung
5	chr20:11001400-11001800	Enhancers	A549	lung
6	chr20:11002400-11003000	Enhancers	HMEC	breast
7	chr20:11002600-11003000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:11002600-11003000	Enhancers	NHEK	skin

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