Variant report

Variant	esv3474320
Chromosome Location	chr11:58850876-58856074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:58850700-58850889	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:58852160-58852235	HepG2	liver:	n/a	n/a
3	SPI1	chr11:58855601-58856069	HL-60	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
4	SPI1	chr11:58855718-58855909	K562	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
5	SPI1	chr11:58855627-58856046	HL-60	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
6	SPI1	chr11:58855621-58855977	GM12878	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
7	SPI1	chr11:58855665-58855933	K562	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
8	SPI1	chr11:58855525-58856259	GM12878	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
9	SPI1	chr11:58855621-58855997	GM12891	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
10	SPI1	chr11:58855703-58855934	GM12878	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827
11	SPI1	chr11:58855565-58855978	GM12891	blood:	n/a	chr11:58855815-58855828 chr11:58855816-58855825 chr11:58855814-58855827

Variant related genes	Relation type
GLYATL1P3	TF binding region

Extended variants
information (count: 291 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143847457	chr11:58850885-58850886	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs666228	chr11:58850926-58850927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181999287	chr11:58850941-58850942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10896912	chr11:58850942-58850943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1938770	chr11:58850949-58850950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539390876	chr11:58850991-58850992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557626895	chr11:58851032-58851033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572533771	chr11:58851034-58851035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4127464	chr11:58851042-58851043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4127463	chr11:58851055-58851056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4127462	chr11:58851060-58851061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186533539	chr11:58851081-58851082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573624736	chr11:58851110-58851111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370045480	chr11:58851127-58851128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542410804	chr11:58851177-58851178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188162045	chr11:58851188-58851189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556751484	chr11:58851217-58851218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180955497	chr11:58851221-58851222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140941977	chr11:58851243-58851244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528513177	chr11:58851257-58851258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546652823	chr11:58851264-58851265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115489252	chr11:58851292-58851293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10128559	chr11:58851321-58851322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185526696	chr11:58851337-58851338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191226618	chr11:58851346-58851347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183431814	chr11:58851350-58851351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11822535	chr11:58851351-58851352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186747603	chr11:58851426-58851427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572797953	chr11:58851555-58851556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191993565	chr11:58851556-58851557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142050126	chr11:58851584-58851585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368771282	chr11:58851637-58851638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1938771	chr11:58851741-58851742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544015083	chr11:58851769-58851770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530587996	chr11:58851774-58851775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562564889	chr11:58851776-58851777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550272705	chr11:58851780-58851781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377714299	chr11:58851790-58851791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563590386	chr11:58851819-58851820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12277828	chr11:58851830-58851831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546386909	chr11:58851843-58851844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564795292	chr11:58851844-58851845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368920519	chr11:58851893-58851894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528735092	chr11:58851934-58851935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183114231	chr11:58851952-58851953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561983245	chr11:58851961-58851962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150379458	chr11:58851967-58851968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376895015	chr11:58852005-58852006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117069604	chr11:58852084-58852085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568994547	chr11:58852108-58852109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58849000-58854800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:58849200-58854400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:58850800-58851600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:58854400-58857000	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:58854400-58860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:58854800-58858000	Enhancers	Primary B cells from cord blood	blood

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