Variant report

Variant	esv3693074
Chromosome Location	chr11:25126060-25304892
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	BHLHE40	chr11:25158684-25158720	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:25159359-25159440	K562	blood:	n/a	chr11:25159402-25159413
3	CEBPB	chr11:25264968-25265055	A549	lung:	n/a	chr11:25265038-25265049
4	CEBPB	chr11:25172819-25173060	A549	lung:	n/a	n/a
5	CEBPB	chr11:25141454-25142097	IMR90	lung:	n/a	chr11:25141910-25141921
6	CEBPB	chr11:25260375-25260618	H1-hESC	embryonic stem cell:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
7	CEBPB	chr11:25260319-25260646	A549	lung:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
8	CEBPB	chr11:25260341-25260634	IMR90	lung:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
9	CEBPB	chr11:25268863-25269216	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:25188854-25189090	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:25249177-25249441	Hela-S3	cervix:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
12	CEBPB	chr11:25201759-25202090	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:25177140-25177395	A549	lung:	n/a	chr11:25177249-25177260
14	CEBPB	chr11:25249153-25249491	HepG2	liver:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
15	CEBPB	chr11:25177141-25177337	HepG2	liver:	n/a	chr11:25177249-25177260
16	CEBPB	chr11:25260309-25260634	HepG2	liver:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
17	CEBPB	chr11:25177091-25177445	IMR90	lung:	n/a	chr11:25177249-25177260
18	CEBPB	chr11:25282831-25283170	HepG2	liver:	n/a	chr11:25282993-25283004
19	CEBPB	chr11:25233440-25233847	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr11:25249166-25249456	IMR90	lung:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
21	CEBPB	chr11:25233534-25233873	MCF-7	breast:	n/a	n/a
22	CEBPB	chr11:25172862-25173040	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:25177148-25177437	K562	blood:	n/a	chr11:25177249-25177260
24	CEBPB	chr11:25282883-25283144	A549	lung:	n/a	chr11:25282993-25283004
25	CEBPB	chr11:25249191-25249468	A549	lung:	n/a	chr11:25249291-25249302 chr11:25249341-25249352
26	CEBPB	chr11:25260335-25260619	K562	blood:	n/a	chr11:25260469-25260480 chr11:25260513-25260524
27	CEBPB	chr11:25141777-25142021	A549	lung:	n/a	chr11:25141910-25141921
28	CEBPB	chr11:25177118-25177349	Hela-S3	cervix:	n/a	chr11:25177249-25177260
29	CEBPB	chr11:25141487-25142080	Hela-S3	cervix:	n/a	chr11:25141910-25141921
30	CEBPB	chr11:25141770-25142081	HepG2	liver:	n/a	chr11:25141910-25141921
31	CHD2	chr11:25233320-25233685	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:25201960-25202110	NHEK	skin:	n/a	n/a
33	CTCF	chr11:25132267-25132303	GM13976	blood:	n/a	n/a
34	CTCF	chr11:25232640-25232790	Caco-2	colon:	n/a	n/a
35	CTCF	chr11:25152720-25152870	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr11:25202420-25202570	AG04450	lung:	n/a	n/a
37	CTCF	chr11:25181020-25181170	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr11:25228863-25228945	GM13976	blood:	n/a	n/a
39	CTCF	chr11:25202345-25202410	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:25152746-25152799	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr11:25150541-25150617	GM20000	blood:	n/a	n/a
42	CTCF	chr11:25152725-25152848	NHEK	skin:	n/a	n/a
43	CTCF	chr11:25202220-25202370	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr11:25202240-25202390	NHEK	skin:	n/a	n/a
45	CTCF	chr11:25194956-25194978	GM10266	blood:	n/a	n/a
46	CTCF	chr11:25294040-25294190	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr11:25202260-25202410	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr11:25152740-25152890	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr11:25202320-25202470	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr11:25262860-25263010	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:25259471..25260471-chr3:74708453..74709453,2	MCF-7	breast:
2	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
3	chr11:25196548..25198799-chr11:25203562..25205354,2	MCF-7	breast:
4	chr11:25196548..25198799-chr11:25203562..25205354,2	MCF-7	breast:
5	chr11:25258471..25259991-chr8:43093202..43096075,2	MCF-7	breast:
6	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
7	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
8	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
9	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
10	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
11	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
12	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
13	chr11:25183407..25185037-chr11:25191634..25194000,2	K562	blood:
14	chr11:25183407..25185037-chr11:25191634..25194000,2	K562	blood:
15	chr11:25259471..25259991-chr8:43092431..43093431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255368	TF binding region

Extended variants
information (count: 367 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142665486	chr11:25176002-25176003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576658271	chr11:25176027-25176028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150587757	chr11:25176035-25176036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28432963	chr11:25176047-25176048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556474925	chr11:25176075-25176076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576646992	chr11:25176084-25176085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61668023	chr11:25176112-25176113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562268842	chr11:25176124-25176125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543788077	chr11:25176128-25176129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572538241	chr11:25176159-25176160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376543177	chr11:25176196-25176197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139483213	chr11:25176237-25176238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533398365	chr11:25176250-25176251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550163000	chr11:25176258-25176259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563597870	chr11:25176261-25176262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117567443	chr11:25176270-25176271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548916840	chr11:25176271-25176272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34464609	chr11:25176288-25176289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541648572	chr11:25176289-25176290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534514996	chr11:25176320-25176321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371739367	chr11:25176325-25176326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551090437	chr11:25176353-25176354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1596840	chr11:25176361-25176362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533482802	chr11:25176392-25176393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139765023	chr11:25222623-25222624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146862193	chr11:25222635-25222636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59828364	chr11:25222671-25222672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540061219	chr11:25222683-25222684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539480214	chr11:25222717-25222718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60566927	chr11:25222741-25222742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77265489	chr11:25222742-25222743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538174846	chr11:25222753-25222754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555339057	chr11:25222773-25222774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543433545	chr11:25222805-25222806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59688980	chr11:25222828-25222829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540877802	chr11:25222832-25222833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144463049	chr11:25222844-25222845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577267933	chr11:25222848-25222849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146060792	chr11:25222883-25222884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180939223	chr11:25223024-25223025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140022196	chr11:25223068-25223069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187048927	chr11:25223079-25223080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561692366	chr11:25223086-25223087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149808978	chr11:25223106-25223107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1425810	chr11:25223135-25223136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75114573	chr11:25223204-25223205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145753763	chr11:25223212-25223213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373998776	chr11:25223225-25223226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192379601	chr11:25223269-25223270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560859455	chr11:25223292-25223293	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25176000-25176400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:25222600-25223400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:25222600-25223400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:25222600-25223400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:25222800-25223400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:25222800-25223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:25222800-25223600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:25228400-25229000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:25233000-25233800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:25233000-25234000	Enhancers	Hela-S3	cervix
11	chr11:25233000-25234000	Enhancers	NHEK	skin
12	chr11:25233200-25233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:25233200-25233600	Active TSS	Gastric	stomach
14	chr11:25233200-25233600	Enhancers	HMEC	breast
15	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:25233200-25233800	Enhancers	Esophagus	oesophagus
18	chr11:25233400-25233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:25239200-25240600	Enhancers	Fetal Heart	heart
20	chr11:25252400-25252600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr11:25252600-25253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:25264400-25265200	Enhancers	NHEK	skin
23	chr11:25264600-25265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:25264800-25265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:25286600-25287000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:25286600-25287000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr11:25302400-25303000	Active TSS	HUES6 Cell Line	embryonic stem cell

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