Variant report

Variant	esv3437124
Chromosome Location	chr20:11378202-11379450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566349478	chr20:11378202-11378203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529116540	chr20:11378239-11378240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62191867	chr20:11378251-11378252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568315834	chr20:11378253-11378254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62191868	chr20:11378264-11378265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192566819	chr20:11378272-11378273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570992044	chr20:11378273-11378274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78047218	chr20:11378277-11378278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75960731	chr20:11378278-11378279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540017983	chr20:11378289-11378290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557320403	chr20:11378350-11378351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553577444	chr20:11378351-11378352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183290468	chr20:11378396-11378397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367784446	chr20:11378456-11378457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57924918	chr20:11378457-11378458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565648026	chr20:11378482-11378483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71186142	chr20:11378486-11378487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370341234	chr20:11378633-11378634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573494576	chr20:11378639-11378640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542120134	chr20:11378648-11378649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374680868	chr20:11378685-11378686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556030035	chr20:11378753-11378754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575130196	chr20:11378767-11378768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544238971	chr20:11378815-11378816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564001346	chr20:11378881-11378882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368892031	chr20:11378884-11378885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532832595	chr20:11378925-11378926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141417444	chr20:11379021-11379022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559873879	chr20:11379086-11379087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146303709	chr20:11379111-11379112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553273479	chr20:11379112-11379113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35114972	chr20:11379124-11379125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530239033	chr20:11379183-11379184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529056451	chr20:11379214-11379215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535680743	chr20:11379216-11379217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569172367	chr20:11379323-11379324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530796615	chr20:11379372-11379373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550981185	chr20:11379377-11379378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74325310	chr20:11379437-11379438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539907957	chr20:11379447-11379448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11376200-11380200	Weak transcription	NHEK	skin
2	chr20:11376200-11383800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr20:11376600-11383600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:11376800-11379000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:11376800-11379200	Weak transcription	Osteobl	bone
6	chr20:11376800-11382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:11377000-11379600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:11379000-11379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:11379200-11379600	Enhancers	Osteobl	bone
10	chr20:11379400-11383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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