Variant report

Variant	esv3345229
Chromosome Location	chr20:14556952-14560750
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	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564215527	chr20:14556976-14556977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531343581	chr20:14556984-14556985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183471383	chr20:14557025-14557026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568193588	chr20:14557029-14557030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529190284	chr20:14557085-14557086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547731745	chr20:14557090-14557091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374474858	chr20:14557107-14557108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189372067	chr20:14557116-14557117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539846442	chr20:14557138-14557139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551779465	chr20:14557149-14557150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149148521	chr20:14557156-14557157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570126734	chr20:14557157-14557158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528920748	chr20:14557158-14557159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537195076	chr20:14557216-14557217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555913155	chr20:14557224-14557225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371270792	chr20:14557225-14557226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537249836	chr20:14557238-14557239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62202890	chr20:14557281-14557282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553253956	chr20:14557333-14557334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2423831	chr20:14557337-14557338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11907915	chr20:14557342-14557343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563968922	chr20:14557358-14557359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201189743	chr20:14557370-14557371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202090525	chr20:14557371-14557372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200259363	chr20:14557372-14557373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398088308	chr20:14557376-14557377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531411333	chr20:14557393-14557394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543190295	chr20:14557473-14557474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561833401	chr20:14557474-14557475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529125417	chr20:14557475-14557476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547666972	chr20:14557502-14557503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141182220	chr20:14557522-14557523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565990223	chr20:14557542-14557543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533117145	chr20:14557572-14557573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551750151	chr20:14557579-14557580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569984207	chr20:14557629-14557630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537518647	chr20:14557639-14557640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143235322	chr20:14557667-14557668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567473527	chr20:14557792-14557793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534896254	chr20:14557820-14557821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572947164	chr20:14557851-14557852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553190441	chr20:14557863-14557864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57439471	chr20:14557870-14557871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6105296	chr20:14557880-14557881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148331850	chr20:14557941-14557942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35096567	chr20:14557943-14557944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371818358	chr20:14557953-14557954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575966592	chr20:14557977-14557978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17227111	chr20:14557984-14557985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114839639	chr20:14558004-14558005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14556600-14557800	Enhancers	Liver	Liver
2	chr20:14556800-14557200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr20:14556800-14557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:14556800-14557400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:14557000-14557400	Enhancers	Fetal Intestine Large	intestine
6	chr20:14557200-14563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr20:14557400-14561200	Weak transcription	Fetal Intestine Large	intestine
8	chr20:14557800-14561200	Weak transcription	Liver	Liver
9	chr20:14560600-14561000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:14560600-14561600	Enhancers	Fetal Brain Female	brain

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