Variant report

Variant	esv1846912
Chromosome Location	chr11:5957046-5961340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:610)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:5959067-5959439	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:5959190-5959403	K562	blood:	n/a	n/a
3	CTCF	chr11:5958318-5958371	GM12878	blood:	n/a	n/a
4	CTCF	chr11:5958240-5958390	A549	lung:	n/a	n/a
5	CTCF	chr11:5958260-5958410	HEK293	kidney:	n/a	n/a
6	CTCF	chr11:5958290-5958451	K562	blood:	n/a	n/a
7	CTCF	chr11:5958432-5958492	GM13977	blood:	n/a	n/a
8	CTCF	chr11:5958281-5958366	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr11:5959170-5959349	K562	blood:	n/a	n/a
10	FOXA1	chr11:5959701-5960017	T-47D	breast:	n/a	n/a
11	FOXA1	chr11:5959729-5959964	T-47D	breast:	n/a	n/a
12	HEY1	chr11:5956561-5957248	K562	blood:	n/a	n/a
13	HEY1	chr11:5959346-5959586	K562	blood:	n/a	n/a
14	HEY1	chr11:5957732-5958750	K562	blood:	n/a	n/a
15	HEY1	chr11:5958323-5958568	K562	blood:	n/a	n/a
16	MAFF	chr11:5959172-5959490	K562	blood:	n/a	chr11:5959331-5959349
17	MAFF	chr11:5959125-5959511	HepG2	liver:	n/a	chr11:5959331-5959349
18	MAFK	chr11:5959181-5959405	Hela-S3	cervix:	n/a	chr11:5959332-5959347
19	MAFK	chr11:5959093-5959511	HepG2	liver:	n/a	chr11:5959332-5959347
20	MAFK	chr11:5959079-5959433	H1-hESC	embryonic stem cell:	n/a	chr11:5959332-5959347
21	MAFK	chr11:5959173-5959487	K562	blood:	n/a	chr11:5959332-5959347
22	MAFK	chr11:5959164-5959505	IMR90	lung:	n/a	chr11:5959332-5959347
23	MAFK	chr11:5959155-5959502	HepG2	liver:	n/a	chr11:5959332-5959347
24	MYC	chr11:5958040-5958084	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr11:5959314-5959427	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr11:5957243-5957300	K562	blood:	n/a	n/a
27	POLR2A	chr11:5958232-5958588	K562	blood:	n/a	n/a
28	POLR2A	chr11:5957769-5957902	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:5959462-5959480	MCF-7	breast:	n/a	n/a
30	POLR2A	chr11:5957581-5957750	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:5958433-5958457	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:5958326-5958467	K562	blood:	n/a	n/a
33	POLR2A	chr11:5958273-5958654	K562	blood:	n/a	n/a
34	POLR2A	chr11:5958281-5958481	K562	blood:	n/a	n/a
35	RAD21	chr11:5958236-5958397	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr11:5958206-5958436	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr11:5958246-5958367	K562	blood:	n/a	n/a
38	YY1	chr11:5959078-5959371	K562	blood:	n/a	chr11:5959189-5959201
39	YY1	chr11:5959028-5959389	K562	blood:	n/a	chr11:5959189-5959201
40	YY1	chr11:5959065-5959347	H1-hESC	embryonic stem cell:	n/a	chr11:5959189-5959201
41	YY1	chr11:5959015-5959270	ECC-1	luminal epithelium:	n/a	chr11:5959189-5959201

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5960213-5960263	HCF	heart:	n/a
2	chr11:5958221-5958271	HRE	kidney:	n/a
3	chr11:5959658-5959708	BJ	skin:	n/a
4	chr11:5960213-5960263	MCF10A-Er-Src	breast:	n/a
5	chr11:5959945-5959995	AG09309	skin:	n/a
6	chr11:5960015-5960065	ovcar-3	ovarian:	n/a
7	chr11:5959658-5959708	GM12892	blood:	n/a
8	chr11:5960213-5960263	RPTEC	kidney:	n/a
9	chr11:5956998-5957048	HCF	heart:	n/a
10	chr11:5960081-5960131	NT2-D1	testis:	n/a
11	chr11:5959239-5959289	HEK293	kidney:	embryo
12	chr11:5959239-5959289	SK-N-SH_RA	brain:	n/a
13	chr11:5957864-5957914	GM19239	blood:	n/a
14	chr11:5959923-5959973	ProgFib	skin:	n/a
15	chr11:5959239-5959289	GM19239	blood:	n/a
16	chr11:5960015-5960065	HEK293	kidney:	embryo
17	chr11:5959945-5959995	HRPEpiC	eye:	n/a
18	chr11:5960081-5960131	PANC-1	pancreas:	n/a
19	chr11:5960081-5960131	AG04450	lung:	fetal
20	chr11:5959945-5959995	ProgFib	skin:	n/a
21	chr11:5960015-5960065	NH-A	brain:	n/a
22	chr11:5960081-5960131	GM12891	blood:	n/a
23	chr11:5960015-5960065	AG09319	gingival:	n/a
24	chr11:5959945-5959995	HUVEC	blood vessel:	n/a
25	chr11:5959945-5959995	NHBE	bronchial:	n/a
26	chr11:5959239-5959289	HEEpiC	esophagus:	n/a
27	chr11:5959239-5959289	HCT-116	colon:	n/a
28	chr11:5959658-5959708	PANC-1	pancreas:	n/a
29	chr11:5959658-5959708	NHBE	bronchial:	n/a
30	chr11:5960213-5960263	CMK	blood:	n/a
31	chr11:5956998-5957048	NHBE	bronchial:	n/a
32	chr11:5959923-5959973	HCF	heart:	n/a
33	chr11:5959923-5959973	T-47D	breast:	n/a
34	chr11:5959945-5959995	HRE	kidney:	n/a
35	chr11:5960015-5960065	ECC-1	luminal epithelium:	n/a
36	chr11:5960213-5960263	Jurkat	blood:	n/a
37	chr11:5959658-5959708	AG04449	skin:	fetal
38	chr11:5960081-5960131	HEK293	kidney:	embryo
39	chr11:5960213-5960263	GM06990	blood:	n/a
40	chr11:5959923-5959973	GM12878	blood:	n/a
41	chr11:5958221-5958271	HIPEpiC	eye:	n/a
42	chr11:5960015-5960065	MCF10A-Er-Src	breast:	n/a
43	chr11:5960081-5960131	IMR90	lung:	fetal
44	chr11:5957864-5957914	LNCaP	prostate:	n/a
45	chr11:5958221-5958271	LNCaP	prostate:	n/a
46	chr11:5956998-5957048	ovcar-3	ovarian:	n/a
47	chr11:5957864-5957914	AG09309	skin:	n/a
48	chr11:5960015-5960065	GM06990	blood:	n/a
49	chr11:5958221-5958271	Caco-2	colon:	n/a
50	chr11:5958221-5958271	BE2_C	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR56A3-1	chr11:5959981-5960217	ENSG00000255257

No data

Variant related genes	Relation type
TRIM5	TF binding region
ENSG00000255257	TF binding region
TRIM5	CpG island
ENSG00000255257	CpG island

Extended variants
information (count: 196 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543999298	chr11:5957059-5957060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546835543	chr11:5957080-5957081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555432599	chr11:5957086-5957087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532680250	chr11:5957088-5957089	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541424376	chr11:5957104-5957105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201645278	chr11:5957105-5957106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530140979	chr11:5957114-5957115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs72886979	chr11:5957123-5957124	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147229781	chr11:5957140-5957141	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530571677	chr11:5957153-5957154	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544349526	chr11:5957169-5957170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs34277799	chr11:5957231-5957232	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533024351	chr11:5957241-5957242	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369477230	chr11:5957253-5957254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373926665	chr11:5957278-5957279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570442845	chr11:5957288-5957289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187082392	chr11:5957308-5957309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376016715	chr11:5957378-5957379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191892511	chr11:5957393-5957394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372674447	chr11:5957410-5957411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182264989	chr11:5957420-5957421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545815568	chr11:5957450-5957451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554797129	chr11:5957540-5957541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576721628	chr11:5957541-5957542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537239679	chr11:5957566-5957567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559141332	chr11:5957597-5957598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs142177750	chr11:5957605-5957606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547992312	chr11:5957630-5957631	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs541512057	chr11:5957657-5957658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559903722	chr11:5957662-5957663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs11039740	chr11:5957663-5957664	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186976429	chr11:5957680-5957681	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs192720785	chr11:5957690-5957691	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528476533	chr11:5957763-5957764	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs151159987	chr11:5957855-5957856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs61876227	chr11:5957864-5957865	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs113258999	chr11:5957869-5957870	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs115330673	chr11:5957884-5957885	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs185409967	chr11:5957935-5957936	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs567819524	chr11:5957957-5957958	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs551158339	chr11:5957964-5957965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574246609	chr11:5957968-5957969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535081134	chr11:5957978-5957979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs550202622	chr11:5957983-5957984	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs190706229	chr11:5957986-5957987	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537780217	chr11:5957987-5957988	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs192853358	chr11:5957990-5957991	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs577335810	chr11:5958013-5958014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs535242923	chr11:5958045-5958046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs553454852	chr11:5958064-5958065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:5959000-5959400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:5959000-5960600	ZNF genes & repeats	Placenta	Placenta
4	chr11:5959400-5962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:5960600-5961000	Enhancers	Placenta	Placenta

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