Variant report

Variant	nsv897122
Chromosome Location	chr11:25115305-25169641
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	chr11:25115739-25115908	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:25159359-25159440	K562	blood:	n/a	chr11:25159402-25159413
4	CEBPB	chr11:25141770-25142081	HepG2	liver:	n/a	chr11:25141910-25141921
5	CEBPB	chr11:25141487-25142080	Hela-S3	cervix:	n/a	chr11:25141910-25141921
6	CEBPB	chr11:25141454-25142097	IMR90	lung:	n/a	chr11:25141910-25141921
7	CEBPB	chr11:25115693-25115948	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:25141777-25142021	A549	lung:	n/a	chr11:25141910-25141921
9	CTCF	chr11:25150541-25150617	GM20000	blood:	n/a	n/a
10	CTCF	chr11:25152746-25152799	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:25132267-25132303	GM13976	blood:	n/a	n/a
12	CTCF	chr11:25152740-25152890	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr11:25152720-25152870	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr11:25126821-25126900	GM10248	blood:	n/a	n/a
15	CTCF	chr11:25152725-25152848	NHEK	skin:	n/a	n/a
16	E2F4	chr11:25121106-25121305	MCF10A-Er-Src	breast:	n/a	n/a
17	FAM48A	chr11:25119491-25119534	GM12878	blood:	n/a	n/a
18	FOS	chr11:25133275-25133475	HUVEC	blood vessel:	n/a	n/a
19	FOS	chr11:25116602-25116607	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:25117043-25117216	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA1	chr11:25115661-25115991	HepG2	liver:	n/a	n/a
22	GATA3	chr11:25141679-25141875	SH-SY5Y	brain:	n/a	n/a
23	JUND	chr11:25122486-25122627	HepG2	liver:	n/a	chr11:25122554-25122565
24	MAFF	chr11:25140983-25141341	HepG2	liver:	n/a	chr11:25141150-25141168
25	MAFF	chr11:25141009-25141303	K562	blood:	n/a	chr11:25141150-25141168
26	MAFK	chr11:25141006-25141324	K562	blood:	n/a	chr11:25141152-25141167 chr11:25141153-25141164 chr11:25141153-25141173
27	MAFK	chr11:25140979-25141346	HepG2	liver:	n/a	chr11:25141152-25141167 chr11:25141153-25141164 chr11:25141153-25141173
28	MAFK	chr11:25153084-25153167	HepG2	liver:	n/a	n/a
29	MAFK	chr11:25140987-25141332	IMR90	lung:	n/a	chr11:25141152-25141167 chr11:25141153-25141164 chr11:25141153-25141173
30	MAFK	chr11:25140992-25141343	HepG2	liver:	n/a	chr11:25141152-25141167 chr11:25141153-25141164 chr11:25141153-25141173
31	MAFK	chr11:25141042-25141307	Hela-S3	cervix:	n/a	chr11:25141152-25141167 chr11:25141153-25141164 chr11:25141153-25141173
32	MAZ	chr11:25160349-25160549	HepG2	liver:	n/a	chr11:25160350-25160359
33	MYC	chr11:25116232-25116313	MCF-7	breast:	n/a	n/a
34	MYC	chr11:25116152-25116161	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:25118238-25118438	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:25159211-25159415	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:25116185-25116213	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:25116195-25116196	Gliobla	brain:	n/a	n/a
39	POLR2A	chr11:25115434-25115504	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:25116193-25116348	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:25115971-25116093	K562	blood:	n/a	n/a
42	POLR2A	chr11:25129808-25129873	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:25134168-25134354	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:25121752-25121880	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:25130628-25130817	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:25135531-25135715	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:25131219-25131294	Gliobla	brain:	n/a	n/a
48	POLR2A	chr11:25116029-25116091	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:25123173-25123373	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:25160531-25160606	MCF10A-Er-Src	breast:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000255368	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11028418	chr11:25115305-25115306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78159648	chr11:25115327-25115328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11028419	chr11:25115347-25115348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535985963	chr11:25115394-25115395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185672231	chr11:25115423-25115424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188660263	chr11:25115435-25115436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150081541	chr11:25115447-25115448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72295843	chr11:25115477-25115478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67288693	chr11:25115481-25115482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564057786	chr11:25115523-25115524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138365460	chr11:25115579-25115580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543218198	chr11:25115619-25115620	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563191186	chr11:25115623-25115624	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs76327978	chr11:25115627-25115628	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs78536542	chr11:25115687-25115688	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559159510	chr11:25115690-25115691	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184369643	chr11:25115735-25115736	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188367176	chr11:25115754-25115755	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113403981	chr11:25115817-25115818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112334254	chr11:25115819-25115820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181272099	chr11:25115823-25115824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533618558	chr11:25115861-25115862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183574361	chr11:25115886-25115887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188259434	chr11:25115905-25115906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182385235	chr11:25115920-25115921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555852158	chr11:25115968-25115969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149275114	chr11:25115970-25115971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546484368	chr11:25115993-25115994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565222095	chr11:25116002-25116003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532310896	chr11:25116005-25116006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187384110	chr11:25116015-25116016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368622046	chr11:25116055-25116056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577613929	chr11:25116062-25116063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192319200	chr11:25116132-25116133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556958005	chr11:25116142-25116143	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25115000-25115600	Enhancers	Liver	Liver
2	chr11:25115600-25115800	Flanking Active TSS	Liver	Liver
3	chr11:25115800-25116200	Enhancers	Liver	Liver

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