Variant report

Variant	esv3513464
Chromosome Location	chr20:16240128-16240502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548545860	chr20:16240144-16240145	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567145639	chr20:16240193-16240194	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111627588	chr20:16240227-16240228	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111449831	chr20:16240248-16240249	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558867702	chr20:16240259-16240260	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115674959	chr20:16240264-16240265	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201723104	chr20:16240271-16240272	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs116067883	chr20:16240281-16240282	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75175113	chr20:16240286-16240287	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146056803	chr20:16240291-16240292	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139670285	chr20:16240294-16240295	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554506520	chr20:16240303-16240304	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115602786	chr20:16240321-16240322	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376634260	chr20:16240325-16240326	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112803152	chr20:16240331-16240332	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149799718	chr20:16240337-16240338	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs67813422	chr20:16240344-16240345	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2486220	chr20:16240345-16240346	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112738775	chr20:16240347-16240348	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs367970693	chr20:16240357-16240358	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs386812846	chr20:16240369-16240370	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148459716	chr20:16240372-16240373	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145219419	chr20:16240374-16240375	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562567189	chr20:16240384-16240385	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs13039457	chr20:16240391-16240392	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529793434	chr20:16240392-16240393	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs13039459	chr20:16240397-16240398	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2474639	chr20:16240404-16240405	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13038336	chr20:16240405-16240406	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548723597	chr20:16240406-16240407	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71331812	chr20:16240407-16240408	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113551518	chr20:16240409-16240410	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2486221	chr20:16240412-16240413	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13038470	chr20:16240414-16240415	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137973118	chr20:16240417-16240418	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2486222	chr20:16240427-16240428	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs377397459	chr20:16240442-16240443	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552470561	chr20:16240446-16240447	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71331813	chr20:16240454-16240455	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537824027	chr20:16240455-16240456	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556182923	chr20:16240462-16240463	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71203997	chr20:16240463-16240464	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs71331814	chr20:16240478-16240479	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145792904	chr20:16240494-16240495	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111277149	chr20:16240502-16240503	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
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
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16238400-16240200	Weak transcription	Gastric	stomach
2	chr20:16239800-16240200	Weak transcription	Spleen	Spleen
3	chr20:16240000-16240400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:16240000-16240400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:16240200-16240400	Enhancers	Spleen	Spleen
6	chr20:16240200-16240600	ZNF genes & repeats	Gastric	stomach
7	chr20:16240200-16242800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:16240400-16243400	Weak transcription	Spleen	Spleen

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