Variant report

Variant	esv3445389
Chromosome Location	chr11:55761132-55782594
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	CTCF	chr11:55768300-55768450	HFF-Myc	foreskin:	n/a	n/a
2	CTCF	chr11:55764276-55764363	Lung_OC	lung:	n/a	n/a
3	CTCF	chr11:55768480-55768630	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr11:55771900-55772050	GM06990	blood:	n/a	n/a
5	CUX1	chr11:55781307-55781462	GM12878	blood:	n/a	n/a
6	E2F4	chr11:55780435-55780593	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr11:55771813-55772216	GM12878	blood:	n/a	n/a
8	EBF1	chr11:55781369-55781629	GM12878	blood:	n/a	n/a
9	EP300	chr11:55781306-55781795	GM12878	blood:	n/a	n/a
10	EP300	chr11:55781302-55781784	GM12878	blood:	n/a	n/a
11	JUN	chr11:55764558-55764677	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr11:55781337-55781444	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:55771762-55771912	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:55776149-55776172	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:55761998-55762134	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:55771433-55771508	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:55780115-55780150	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:55770539-55770552	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT1	chr11:55772221-55772381	GM12878	blood:	n/a	n/a
20	STAT3	chr11:55764378-55764578	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OR5F1	TF binding region

Extended variants
information (count: 207 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149961467	chr11:55761208-55761209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371025064	chr11:55761218-55761219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2449134	chr11:55761221-55761222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571978450	chr11:55761230-55761231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs66470326	chr11:55761251-55761252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77110658	chr11:55761256-55761257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201874701	chr11:55761259-55761260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11825964	chr11:55761270-55761271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148858000	chr11:55761276-55761277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80272096	chr11:55761281-55761282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375364958	chr11:55761282-55761283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368044547	chr11:55761292-55761293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115038777	chr11:55761298-55761299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141507953	chr11:55761310-55761311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200882120	chr11:55761332-55761333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58625186	chr11:55761338-55761339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370696479	chr11:55761352-55761353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371962080	chr11:55761355-55761356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377087548	chr11:55761365-55761366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540902518	chr11:55761382-55761383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs267602986	chr11:55761386-55761387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561974760	chr11:55761392-55761393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138514211	chr11:55761408-55761409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369455612	chr11:55761410-55761411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144082157	chr11:55761412-55761413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367584917	chr11:55761434-55761435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530485082	chr11:55761441-55761442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147257465	chr11:55761442-55761443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373538766	chr11:55761455-55761456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139679637	chr11:55761463-55761464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376723028	chr11:55761468-55761469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201345840	chr11:55761479-55761480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373022460	chr11:55761489-55761490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149807324	chr11:55761493-55761494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376057556	chr11:55761508-55761509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35607186	chr11:55761528-55761529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148461158	chr11:55761566-55761567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202190872	chr11:55761567-55761568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144072291	chr11:55761579-55761580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370503254	chr11:55761585-55761586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146483599	chr11:55761593-55761594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145426776	chr11:55761605-55761606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372684113	chr11:55761654-55761655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143461910	chr11:55761661-55761662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201523946	chr11:55761685-55761686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376239660	chr11:55761690-55761691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374750748	chr11:55761698-55761699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368793724	chr11:55761715-55761716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190524347	chr11:55761719-55761720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146676493	chr11:55761727-55761728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55761200-55761400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:55761400-55762600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:55762600-55763600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:55762800-55764200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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