Variant report

Variant	esv3370061
Chromosome Location	chr11:55761874-55782716
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	chr11:55768480-55768630	HFF-Myc	foreskin:	n/a	n/a
2	CTCF	chr11:55771900-55772050	GM06990	blood:	n/a	n/a
3	CTCF	chr11:55768300-55768450	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr11:55764276-55764363	Lung_OC	lung:	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	chr11:55780115-55780150	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:55761998-55762134	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:55771433-55771508	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:55770539-55770552	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:55776149-55776172	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:55771762-55771912	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: 135 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146899581	chr11:55761880-55761881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148302675	chr11:55761887-55761888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545503086	chr11:55761892-55761893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200805868	chr11:55761906-55761907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375949971	chr11:55761914-55761915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141399198	chr11:55761918-55761919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs267602987	chr11:55761919-55761920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564311131	chr11:55761939-55761940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187827793	chr11:55761941-55761942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376515069	chr11:55761962-55761963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372205796	chr11:55761975-55761976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201185164	chr11:55762038-55762039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368825299	chr11:55762042-55762043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71490418	chr11:55762060-55762061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534436960	chr11:55762065-55762066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139328258	chr11:55762066-55762067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528898934	chr11:55762077-55762078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191192898	chr11:55762116-55762117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371530898	chr11:55762144-55762145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539183878	chr11:55762146-55762147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75772178	chr11:55762152-55762153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77381440	chr11:55762165-55762166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369681609	chr11:55762166-55762167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372911108	chr11:55762167-55762168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71055561	chr11:55762168-55762169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397848718	chr11:55762169-55762170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398016094	chr11:55762181-55762182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368299497	chr11:55762183-55762184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551053519	chr11:55762194-55762195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566770628	chr11:55762195-55762196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61888468	chr11:55762215-55762216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556426259	chr11:55762220-55762221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539077675	chr11:55762316-55762317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555796581	chr11:55762331-55762332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77049100	chr11:55762348-55762349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74836693	chr11:55762376-55762377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61888469	chr11:55762382-55762383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377594038	chr11:55762388-55762389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538133542	chr11:55762421-55762422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556628391	chr11:55762441-55762442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578062042	chr11:55762442-55762443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61888470	chr11:55762444-55762445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375124427	chr11:55762467-55762468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141774478	chr11:55762494-55762495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369639783	chr11:55762535-55762536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567492083	chr11:55762556-55762557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141040241	chr11:55762610-55762611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572960545	chr11:55762642-55762643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540391407	chr11:55762668-55762669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183027316	chr11:55762735-55762736	Enhancers	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:3 , 50 per page) page: 1

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

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