Variant report

Variant	esv3520132
Chromosome Location	chr20:22654499-22657229
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	chr20:22290558..22292252-chr20:22657024..22659416,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-4	chr20:22656710-22658895	ENSG00000230400
2	lnc-FOXA2-4	chr20:22656710-22658895	XLOC_013686

Variant related genes	Relation type
SLC25A23	miRNA target sites

Extended variants
information (count: 140 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73304707	chr20:22654559-22654560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567312595	chr20:22654571-22654572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372606980	chr20:22654580-22654581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149984700	chr20:22654677-22654678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537838974	chr20:22654680-22654681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567562370	chr20:22654712-22654713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530419405	chr20:22654713-22654714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556322654	chr20:22654747-22654748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547006775	chr20:22654777-22654778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566844889	chr20:22654801-22654802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569751823	chr20:22654835-22654836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559069132	chr20:22654921-22654922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145247014	chr20:22654954-22654955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538379588	chr20:22655038-22655039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142478498	chr20:22655042-22655043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573907329	chr20:22655064-22655065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146733441	chr20:22655145-22655146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184553247	chr20:22655165-22655166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6048244	chr20:22655185-22655186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6048245	chr20:22655197-22655198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190402822	chr20:22655248-22655249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544682336	chr20:22655281-22655282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181872283	chr20:22655318-22655319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530512949	chr20:22655345-22655346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186909813	chr20:22655347-22655348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538843158	chr20:22655348-22655349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561125160	chr20:22655359-22655360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553656822	chr20:22655388-22655389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141774692	chr20:22655390-22655391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375349387	chr20:22655435-22655436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567075775	chr20:22655443-22655444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532494007	chr20:22655444-22655445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531652485	chr20:22655446-22655447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551450934	chr20:22655499-22655500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569317506	chr20:22655570-22655571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202061454	chr20:22655653-22655654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538318095	chr20:22655662-22655663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577612958	chr20:22655678-22655679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6082779	chr20:22655695-22655696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143799604	chr20:22655733-22655734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536077922	chr20:22655734-22655735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189752939	chr20:22655760-22655761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573063485	chr20:22655809-22655810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200257980	chr20:22655863-22655864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148169450	chr20:22655867-22655868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181162267	chr20:22655881-22655882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554431528	chr20:22655895-22655896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532789921	chr20:22655918-22655919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6132537	chr20:22655923-22655924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185760723	chr20:22655953-22655954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22645600-22664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22652200-22659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22654000-22654600	Enhancers	Stomach Mucosa	stomach
4	chr20:22654200-22654800	Enhancers	Gastric	stomach
5	chr20:22654200-22654800	Enhancers	Pancreas	Pancrea
6	chr20:22656000-22656200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:22656000-22657200	Enhancers	Primary B cells from peripheral blood	blood
8	chr20:22656200-22656400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr20:22656400-22658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:22656400-22662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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