Variant report

Variant	esv3492679
Chromosome Location	chr11:5865425-5893434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:245)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
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	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
2	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
4	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
5	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
6	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
7	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
10	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
11	CUX1	chr11:5868005-5868222	K562	blood:	n/a	n/a
12	CUX1	chr11:5885690-5885712	GM12878	blood:	n/a	n/a
13	FAM48A	chr11:5892719-5892815	GM12878	blood:	n/a	n/a
14	FOS	chr11:5866203-5866313	MCF10A-Er-Src	breast:	n/a	chr11:5866270-5866279
15	GATA2	chr11:5867938-5868231	K562	blood:	n/a	n/a
16	GATA3	chr11:5866686-5866880	SH-SY5Y	brain:	n/a	chr11:5866736-5866746
17	NFYA	chr11:5871139-5871260	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:5882397-5882439	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:5875602-5875721	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:5891008-5891023	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:5881104-5881191	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5887368-5887448	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:5869992-5870192	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:5869476-5869551	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:5874795-5874859	GM12878	blood:	n/a	n/a
26	RCOR1	chr11:5870763-5870771	GM12878	blood:	n/a	n/a
27	SPI1	chr11:5890011-5890126	K562	blood:	n/a	n/a
28	SPI1	chr11:5875598-5875807	GM12891	blood:	n/a	n/a
29	SPI1	chr11:5875526-5875870	HL-60	blood:	n/a	n/a
30	SPI1	chr11:5875635-5875791	K562	blood:	n/a	n/a
31	SPI1	chr11:5875626-5875733	GM12878	blood:	n/a	n/a
32	STAT3	chr11:5885927-5886104	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT5A	chr11:5867854-5868317	K562	blood:	n/a	n/a
34	TAL1	chr11:5881484-5881548	K562	blood:	n/a	n/a
35	TAL1	chr11:5867928-5868278	K562	blood:	n/a	chr11:5867978-5867993
36	TAL1	chr11:5872417-5872457	K562	blood:	n/a	n/a
37	TCF7L2	chr11:5875863-5876193	HepG2	liver:	n/a	n/a
38	TEAD4	chr11:5867972-5868271	K562	blood:	n/a	chr11:5868142-5868151
39	TEAD4	chr11:5867811-5868342	K562	blood:	n/a	chr11:5868142-5868151
40	USF2	chr11:5882286-5882289	K562	blood:	n/a	n/a
41	ZNF384	chr11:5869084-5869257	K562	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5879799-5879849	CMK	blood:	n/a
2	chr11:5879799-5879849	CMK	blood:	n/a
3	chr11:5878958-5879008	HRCEpiC	kidney:	n/a
4	chr11:5878019-5878069	HIPEpiC	eye:	n/a
5	chr11:5878955-5879005	HCT-116	colon:	n/a
6	chr11:5879799-5879849	Hepatocyte	liver:	n/a
7	chr11:5878955-5879005	AoSMC	blood vessel:	n/a
8	chr11:5879799-5879849	HCF	heart:	n/a
9	chr11:5878019-5878069	ovcar-3	ovarian:	n/a
10	chr11:5878955-5879005	H1-hESC	embryonic stem cell:	embryo
11	chr11:5878958-5879008	BJ	skin:	n/a
12	chr11:5878955-5879005	K562	blood:	n/a
13	chr11:5878958-5879008	GM06990	blood:	n/a
14	chr11:5878955-5879005	AG09319	gingival:	n/a
15	chr11:5878019-5878069	HRCEpiC	kidney:	n/a
16	chr11:5878958-5879008	HCPEpiC	choroid plexus:	n/a
17	chr11:5879799-5879849	HRCEpiC	kidney:	n/a
18	chr11:5878958-5879008	GM12892	blood:	n/a
19	chr11:5878955-5879005	HEK293	kidney:	embryo
20	chr11:5878955-5879005	LNCaP	prostate:	n/a
21	chr11:5878019-5878069	T-47D	breast:	n/a
22	chr11:5878019-5878069	HCM	heart:	n/a
23	chr11:5879799-5879849	T-47D	breast:	n/a
24	chr11:5878958-5879008	BE2_C	brain:	n/a
25	chr11:5879799-5879849	ECC-1	luminal epithelium:	n/a
26	chr11:5878955-5879005	SK-N-MC	brain:	n/a
27	chr11:5878958-5879008	HCM	heart:	n/a
28	chr11:5878958-5879008	NB4	blood:	n/a
29	chr11:5878019-5878069	SK-N-MC	brain:	n/a
30	chr11:5878019-5878069	NHBE	bronchial:	n/a
31	chr11:5878958-5879008	HRE	kidney:	n/a
32	chr11:5878019-5878069	HRPEpiC	eye:	n/a
33	chr11:5878019-5878069	IMR90	lung:	fetal
34	chr11:5878019-5878069	LNCaP	prostate:	n/a
35	chr11:5878019-5878069	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:5878019-5878069	Hela-S3	cervix:	n/a
37	chr11:5878955-5879005	SAEC	small airway:	n/a
38	chr11:5879799-5879849	HEK293	kidney:	embryo
39	chr11:5878019-5878069	K562	blood:	n/a
40	chr11:5878958-5879008	IMR90	lung:	fetal
41	chr11:5878955-5879005	HRE	kidney:	n/a
42	chr11:5878955-5879005	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:5878019-5878069	HEEpiC	esophagus:	n/a
44	chr11:5878019-5878069	SAEC	small airway:	n/a
45	chr11:5878955-5879005	GM12878	blood:	n/a
46	chr11:5879799-5879849	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:5878958-5879008	GM19239	blood:	n/a
48	chr11:5879799-5879849	NH-A	brain:	n/a
49	chr11:5879799-5879849	HMEC	breast:	n/a
50	chr11:5879799-5879849	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
2	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
3	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:
4	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:

No data

Variant related genes	Relation type
OR52E7P	TF binding region
OR52E6	TF binding region
OR52E8	TF binding region
OR52E7P	CpG island
OR52E6	CpG island
OR52E8	CpG island
ENSG00000183269	chromatin interactions
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000121236	chromatin interactions

Extended variants
information (count: 525 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201772946	chr11:5865425-5865426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368749797	chr11:5865433-5865434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186291563	chr11:5865438-5865439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375157788	chr11:5865445-5865446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56293312	chr11:5865446-5865447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368445596	chr11:5865448-5865449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372738875	chr11:5865452-5865453	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372349819	chr11:5865455-5865456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375631710	chr11:5865461-5865462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367642292	chr11:5865462-5865463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371838938	chr11:5865463-5865464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376733158	chr11:5865470-5865471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7927325	chr11:5865477-5865478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377265795	chr11:5865483-5865484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71056710	chr11:5865488-5865489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7930389	chr11:5865489-5865490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7927330	chr11:5865490-5865491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369202835	chr11:5865508-5865509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191096024	chr11:5865512-5865513	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs9300057	chr11:5865517-5865518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7927341	chr11:5865518-5865519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9300058	chr11:5865525-5865526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7930402	chr11:5865526-5865527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7930498	chr11:5865527-5865528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11393501	chr11:5865528-5865529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9300059	chr11:5865533-5865534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9300060	chr11:5865543-5865544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76363635	chr11:5865544-5865545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79403795	chr11:5865545-5865546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7927464	chr11:5865556-5865557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71468072	chr11:5865577-5865578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10671112	chr11:5865578-5865579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs202177787	chr11:5865580-5865581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397949410	chr11:5865586-5865587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12224536	chr11:5865653-5865654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143370511	chr11:5865675-5865676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188768926	chr11:5865719-5865720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528832900	chr11:5865736-5865737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34428509	chr11:5865811-5865812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547211727	chr11:5865829-5865830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6578691	chr11:5865841-5865842	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529389428	chr11:5865912-5865913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77884538	chr11:5865958-5865959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544727353	chr11:5865982-5865983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569205921	chr11:5865998-5865999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539453850	chr11:5866004-5866005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564889224	chr11:5866028-5866029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557991712	chr11:5866040-5866041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143884287	chr11:5866069-5866070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373561114	chr11:5866101-5866102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Esophageal adenocarcinoma	18519675	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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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