Variant report

Variant	nsv553854
Chromosome Location	chr11:25086509-25175198
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	chr11:25141487-25142080	Hela-S3	cervix:	n/a	chr11:25141910-25141921
3	CEBPB	chr11:25172862-25173040	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:25159359-25159440	K562	blood:	n/a	chr11:25159402-25159413
5	CEBPB	chr11:25115693-25115948	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:25141454-25142097	IMR90	lung:	n/a	chr11:25141910-25141921
7	CEBPB	chr11:25115739-25115908	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:25141770-25142081	HepG2	liver:	n/a	chr11:25141910-25141921
9	CEBPB	chr11:25087024-25087563	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr11:25141777-25142021	A549	lung:	n/a	chr11:25141910-25141921
11	CEBPB	chr11:25086865-25087560	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:25172819-25173060	A549	lung:	n/a	n/a
13	CTCF	chr11:25152725-25152848	NHEK	skin:	n/a	n/a
14	CTCF	chr11:25086730-25086802	GM10248	blood:	n/a	n/a
15	CTCF	chr11:25152740-25152890	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr11:25152720-25152870	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr11:25150541-25150617	GM20000	blood:	n/a	n/a
18	CTCF	chr11:25152746-25152799	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr11:25132267-25132303	GM13976	blood:	n/a	n/a
20	CTCF	chr11:25126821-25126900	GM10248	blood:	n/a	n/a
21	E2F4	chr11:25087027-25087420	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr11:25121106-25121305	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr11:25087327-25087423	GM12878	blood:	n/a	n/a
24	EP300	chr11:25087181-25087560	Hela-S3	cervix:	n/a	chr11:25087448-25087455
25	FAM48A	chr11:25119491-25119534	GM12878	blood:	n/a	n/a
26	FOS	chr11:25089951-25090447	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:25133275-25133475	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr11:25087146-25087610	HUVEC	blood vessel:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
29	FOS	chr11:25089964-25090338	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr11:25116602-25116607	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr11:25089929-25090500	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr11:25086817-25087747	MCF10A-Er-Src	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
33	FOS	chr11:25087052-25087651	MCF10A-Er-Src	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
34	FOS	chr11:25087201-25087573	Hela-S3	cervix:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
35	FOS	chr11:25117043-25117216	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:25087079-25087650	MCF10A-Er-Src	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
37	FOS	chr11:25089954-25090430	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:25086891-25087668	MCF10A-Er-Src	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
39	FOSL2	chr11:25087225-25087538	A549	lung:	n/a	chr11:25087349-25087361 chr11:25087351-25087359
40	FOSL2	chr11:25087181-25087620	SK-N-SH	brain:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219
41	FOSL2	chr11:25087160-25087570	MCF-7	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219
42	FOSL2	chr11:25087099-25087604	MCF-7	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219
43	FOSL2	chr11:25087131-25087660	A549	lung:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219
44	FOXA1	chr11:25115661-25115991	HepG2	liver:	n/a	n/a
45	GATA3	chr11:25087033-25087740	A549	lung:	n/a	chr11:25087178-25087188 chr11:25087349-25087358
46	GATA3	chr11:25087109-25087728	SK-N-SH	brain:	n/a	chr11:25087178-25087188 chr11:25087349-25087358
47	GATA3	chr11:25111593-25111833	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr11:25087221-25087673	SK-N-SH	brain:	n/a	chr11:25087349-25087358
49	GATA3	chr11:25141679-25141875	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr11:25087027-25087637	MCF-7	breast:	n/a	chr11:25087178-25087188 chr11:25087349-25087358

No.	Distal block	Cell Line	Cell type
1	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
2	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
3	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
4	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255368	TF binding region

Extended variants
information (count: 246 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs139835341	chr11:25086621-25086622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192273627	chr11:25086625-25086626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1446163	chr11:25086653-25086654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564759099	chr11:25086661-25086662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1446162	chr11:25086664-25086665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116912762	chr11:25086677-25086678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372098129	chr11:25086680-25086681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563902861	chr11:25086684-25086685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529393500	chr11:25086753-25086754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549539629	chr11:25086762-25086763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1446161	chr11:25086768-25086769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183251792	chr11:25086810-25086811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551494901	chr11:25086811-25086812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571488802	chr11:25086815-25086816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562076736	chr11:25086828-25086829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556721260	chr11:25086832-25086833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577475182	chr11:25086864-25086865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371427325	chr11:25086870-25086871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187832832	chr11:25086902-25086903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552983659	chr11:25086917-25086918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538398660	chr11:25086918-25086919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544952935	chr11:25086919-25086920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558291969	chr11:25086941-25086942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7122480	chr11:25087004-25087005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544164023	chr11:25087017-25087018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145458676	chr11:25087030-25087031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144262639	chr11:25087042-25087043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148468156	chr11:25087050-25087051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77238145	chr11:25087060-25087061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142612814	chr11:25087064-25087065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1992732	chr11:25087092-25087093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527481868	chr11:25087096-25087097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530705648	chr11:25087110-25087111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373447506	chr11:25087140-25087141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76666474	chr11:25087207-25087208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1992731	chr11:25087232-25087233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376787254	chr11:25087239-25087240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567224205	chr11:25087250-25087251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535999573	chr11:25087256-25087257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143457538	chr11:25087264-25087265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546045927	chr11:25087269-25087270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374245733	chr11:25087276-25087277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566535519	chr11:25087277-25087278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538386286	chr11:25087285-25087286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564810345	chr11:25087350-25087351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112265617	chr11:25087381-25087382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575355125	chr11:25087405-25087406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537738000	chr11:25087411-25087412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549421171	chr11:25087441-25087442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146669280	chr11:25087442-25087443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25086600-25087000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:25086800-25088000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:25086800-25088400	Enhancers	Hela-S3	cervix
4	chr11:25086800-25088600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:25086800-25088600	Enhancers	NHEK	skin
6	chr11:25087000-25088600	Enhancers	NH-A	brain
7	chr11:25087000-25091200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:25087600-25088200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:25088600-25090000	Weak transcription	NHEK	skin
10	chr11:25088600-25090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:25089800-25090600	Enhancers	HMEC	breast
12	chr11:25090000-25090600	Enhancers	NHEK	skin
13	chr11:25090200-25090600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:25115000-25115600	Enhancers	Liver	Liver
15	chr11:25115600-25115800	Flanking Active TSS	Liver	Liver
16	chr11:25115800-25116200	Enhancers	Liver	Liver

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