Variant report

Variant	esv3381137
Chromosome Location	chr11:58171790-58182343
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	CBX3	chr11:58177572-58177720	K562	blood:	n/a	n/a
2	POLR2A	chr11:58179224-58179260	Gliobla	brain:	n/a	n/a
3	POLR2A	chr11:58178399-58178535	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr11:58181720-58181885	GM12891	blood:	n/a	n/a
5	SPI1	chr11:58181682-58181878	GM12878	blood:	n/a	n/a
6	SPI1	chr11:58181705-58181830	GM12878	blood:	n/a	n/a
7	SPI1	chr11:58181689-58181873	K562	blood:	n/a	n/a
8	SPI1	chr11:58181679-58181880	K562	blood:	n/a	n/a

Variant related genes	Relation type
OR5B3	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148830240	chr11:58174404-58174405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187633994	chr11:58174507-58174508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574573445	chr11:58174559-58174560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372652165	chr11:58174619-58174620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190871737	chr11:58174635-58174636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530289588	chr11:58174646-58174647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548777097	chr11:58174647-58174648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12797488	chr11:58174653-58174654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537628489	chr11:58174682-58174683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12802819	chr11:58174747-58174748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183100485	chr11:58174751-58174752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12802960	chr11:58174775-58174776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552960629	chr11:58174867-58174868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12286421	chr11:58174898-58174899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535354115	chr11:58174905-58174906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529431274	chr11:58174908-58174909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116012111	chr11:58174933-58174934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575378691	chr11:58174944-58174945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549425615	chr11:58174955-58174956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370935671	chr11:58174971-58174972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565083151	chr11:58174977-58174978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545819849	chr11:58174982-58174983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35532037	chr11:58175006-58175007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72207535	chr11:58175007-58175008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199512592	chr11:58175008-58175009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12289198	chr11:58175057-58175058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs55933868	chr11:58175058-58175059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533983392	chr11:58175131-58175132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530442911	chr11:58175133-58175134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150967442	chr11:58175178-58175179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563991489	chr11:58175179-58175180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368800218	chr11:58175213-58175214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79605824	chr11:58175254-58175255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115757107	chr11:58175396-58175397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142058414	chr11:58175399-58175400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371409591	chr11:58175413-58175414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367677535	chr11:58175492-58175493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542057056	chr11:58175513-58175514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568036659	chr11:58175530-58175531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535411002	chr11:58175546-58175547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12294062	chr11:58175603-58175604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541701183	chr11:58175633-58175634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11229423	chr11:58175634-58175635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539257787	chr11:58175678-58175679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7104047	chr11:58175687-58175688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142787767	chr11:58175691-58175692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370752701	chr11:58175709-58175710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576937787	chr11:58175731-58175732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138835722	chr11:58175739-58175740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535980098	chr11:58175769-58175770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58174400-58178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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