Variant report

Variant	nsv897135
Chromosome Location	chr11:25618242-25674033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:25623762-25623935	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:25630449-25630466	K562	blood:	n/a	n/a
3	CEBPB	chr11:25654764-25655080	HepG2	liver:	n/a	chr11:25654930-25654941
4	CEBPB	chr11:25654801-25655170	MCF-7	breast:	n/a	chr11:25654930-25654941
5	CEBPB	chr11:25654759-25654990	H1-hESC	embryonic stem cell:	n/a	chr11:25654930-25654941
6	CEBPB	chr11:25654767-25655104	IMR90	lung:	n/a	chr11:25654930-25654941
7	CEBPB	chr11:25654846-25655049	MCF-7	breast:	n/a	chr11:25654930-25654941
8	CEBPB	chr11:25654797-25655096	A549	lung:	n/a	chr11:25654930-25654941
9	CEBPB	chr11:25636635-25637011	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr11:25654755-25655103	Hela-S3	cervix:	n/a	chr11:25654930-25654941
11	CTCF	chr11:25623780-25623930	HPF	lung:	n/a	n/a
12	CTCF	chr11:25650075-25650115	GM10248	blood:	n/a	n/a
13	CTCF	chr11:25632967-25633016	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:25672614-25672668	GM13976	blood:	n/a	n/a
15	FOS	chr11:25618279-25618545	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:25618375-25618587	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:25618316-25618516	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr11:25646723-25647073	T-47D	breast:	n/a	chr11:25646955-25646970
19	FOXA1	chr11:25646701-25647094	T-47D	breast:	n/a	chr11:25646955-25646970
20	FOXA2	chr11:25670762-25670975	A549	lung:	n/a	n/a
21	FOXA2	chr11:25670576-25671009	A549	lung:	n/a	n/a
22	GATA2	chr11:25633662-25634223	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr11:25633758-25633881	SH-SY5Y	brain:	n/a	n/a
24	JUN	chr11:25662228-25662238	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUN	chr11:25623924-25623969	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr11:25623841-25624041	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr11:25618424-25618457	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr11:25654885-25655167	HepG2	liver:	n/a	chr11:25655028-25655037
29	MAFF	chr11:25625677-25625793	HepG2	liver:	n/a	n/a
30	MAFK	chr11:25625682-25625872	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
31	MAFK	chr11:25621890-25621907	HepG2	liver:	n/a	n/a
32	MAFK	chr11:25625602-25625874	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
33	MAFK	chr11:25664518-25664740	HepG2	liver:	n/a	n/a
34	MAFK	chr11:25622010-25622185	HepG2	liver:	n/a	chr11:25622059-25622074
35	MAZ	chr11:25648114-25648311	HepG2	liver:	n/a	n/a
36	MAZ	chr11:25620210-25620338	HepG2	liver:	n/a	n/a
37	MXI1	chr11:25624466-25624499	Hela-S3	cervix:	n/a	n/a
38	MYC	chr11:25642178-25642631	A549	lung:	n/a	n/a
39	NFYA	chr11:25672096-25672410	Hela-S3	cervix:	n/a	n/a
40	NFYA	chr11:25623677-25624156	Hela-S3	cervix:	n/a	n/a
41	NFYB	chr11:25623981-25624181	GM12878	blood:	n/a	n/a
42	NFYB	chr11:25641387-25641669	Hela-S3	cervix:	n/a	n/a
43	NFYB	chr11:25648842-25649246	Hela-S3	cervix:	n/a	n/a
44	NRF1	chr11:25642244-25642771	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:25647134-25647260	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:25664464-25664582	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:25640616-25640688	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:25663435-25663555	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:25662747-25662859	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:25624917-25625079	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:25623877-25623927	Hepatocyte	liver:	n/a
2	chr11:25623877-25623927	HRCEpiC	kidney:	n/a
3	chr11:25623877-25623927	SK-N-SH	brain:	n/a
4	chr11:25623877-25623927	HCM	heart:	n/a
5	chr11:25623877-25623927	H1-hESC	embryonic stem cell:	embryo
6	chr11:25623877-25623927	IMR90	lung:	fetal
7	chr11:25623877-25623927	GM12878	blood:	n/a
8	chr11:25623877-25623927	SK-N-SH_RA	brain:	n/a
9	chr11:25623877-25623927	PFSK-1	brain:	n/a
10	chr11:25623877-25623927	AG09309	skin:	n/a
11	chr11:25623877-25623927	ECC-1	luminal epithelium:	n/a
12	chr11:25623877-25623927	HMEC	breast:	n/a
13	chr11:25623877-25623927	NB4	blood:	n/a
14	chr11:25623877-25623927	HEK293	kidney:	embryo
15	chr11:25623877-25623927	T-47D	breast:	n/a
16	chr11:25623877-25623927	A549	lung:	n/a
17	chr11:25623877-25623927	SAEC	small airway:	n/a
18	chr11:25623877-25623927	AG09319	gingival:	n/a
19	chr11:25623877-25623927	GM12892	blood:	n/a
20	chr11:25623877-25623927	GM12891	blood:	n/a
21	chr11:25623877-25623927	HCT-116	colon:	n/a
22	chr11:25623877-25623927	GM06990	blood:	n/a
23	chr11:25623877-25623927	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:25623877-25623927	BJ	skin:	n/a
25	chr11:25623877-25623927	AG04449	skin:	fetal
26	chr11:25623877-25623927	LNCaP	prostate:	n/a
27	chr11:25623877-25623927	PrEC	prostate:	n/a
28	chr11:25623877-25623927	NH-A	brain:	n/a
29	chr11:25623877-25623927	HCPEpiC	choroid plexus:	n/a
30	chr11:25623877-25623927	HepG2	liver:	n/a
31	chr11:25623877-25623927	U87	brain:	n/a
32	chr11:25623877-25623927	HCF	heart:	n/a
33	chr11:25623877-25623927	Caco-2	colon:	n/a
34	chr11:25623877-25623927	BE2_C	brain:	n/a
35	chr11:25623877-25623927	Hela-S3	cervix:	n/a
36	chr11:25623877-25623927	MCF-7	breast:	n/a
37	chr11:25623877-25623927	HIPEpiC	eye:	n/a
38	chr11:25623877-25623927	HUVEC	blood vessel:	n/a
39	chr11:25623877-25623927	Jurkat	blood:	n/a
40	chr11:25623877-25623927	ovcar-3	ovarian:	n/a
41	chr11:25623877-25623927	ProgFib	skin:	n/a
42	chr11:25623877-25623927	HRPEpiC	eye:	n/a
43	chr11:25623877-25623927	SK-N-MC	brain:	n/a
44	chr11:25623877-25623927	NT2-D1	testis:	n/a
45	chr11:25623877-25623927	AG10803	skin:	n/a
46	chr11:25623877-25623927	GM19239	blood:	n/a
47	chr11:25623877-25623927	HNPCEpiC	eye:	n/a
48	chr11:25623877-25623927	NHBE	bronchial:	n/a
49	chr11:25623877-25623927	SKMC	muscle:	n/a
50	chr11:25623877-25623927	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LUZP2-2	chr11:25652266-25652587	NONHSAT018449

No data

Variant related genes	Relation type
ENSG00000255454	TF binding region
ENSG00000255454	CpG island

Extended variants
information (count: 951 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16914166	chr11:25618242-25618243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17308155	chr11:25618298-25618299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534172527	chr11:25618321-25618322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183109735	chr11:25618365-25618366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139829484	chr11:25618399-25618400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73431375	chr11:25618441-25618442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78973516	chr11:25618442-25618443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1373018	chr11:25618453-25618454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529555562	chr11:25618488-25618489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149666293	chr11:25618601-25618602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560607164	chr11:25618618-25618619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145535768	chr11:25618623-25618624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559473875	chr11:25618635-25618636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187605775	chr11:25618670-25618671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148431897	chr11:25618730-25618731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533258876	chr11:25618773-25618774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79799843	chr11:25618838-25618839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142539464	chr11:25618840-25618841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147725130	chr11:25618864-25618865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191185855	chr11:25618866-25618867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17242391	chr11:25618889-25618890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572740702	chr11:25618910-25618911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534079961	chr11:25618918-25618919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146913429	chr11:25618953-25618954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74746471	chr11:25618977-25618978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34234248	chr11:25618981-25618982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538309201	chr11:25619018-25619019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182511677	chr11:25619020-25619021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549345700	chr11:25619029-25619030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564275758	chr11:25619055-25619056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188001214	chr11:25619057-25619058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192419473	chr11:25619080-25619081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545270120	chr11:25619096-25619097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147950881	chr11:25619108-25619109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568281608	chr11:25619160-25619161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17242398	chr11:25619161-25619162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112901603	chr11:25619193-25619194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115030582	chr11:25619235-25619236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201010703	chr11:25619250-25619251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561322982	chr11:25619251-25619252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183082018	chr11:25619252-25619253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12288152	chr11:25619253-25619254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199827781	chr11:25619256-25619257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576762667	chr11:25619281-25619282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150399991	chr11:25619329-25619330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17242405	chr11:25619367-25619368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529818540	chr11:25619391-25619392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551237308	chr11:25619427-25619428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539634381	chr11:25619450-25619451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16914168	chr11:25619468-25619469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25616000-25619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:25617400-25620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:25619200-25619600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:25619400-25619800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:25619400-25619800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:25619600-25623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:25619800-25623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:25620200-25623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:25623000-25623200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:25623400-25624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:25623400-25624400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:25623400-25624400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:25623400-25624600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:25623800-25624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:25623800-25624000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:25624000-25624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:25624400-25624800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:25632000-25632400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:25632400-25637400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:25633400-25637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:25633600-25635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:25634200-25634800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:25634200-25634800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:25634200-25634800	Enhancers	Fetal Muscle Leg	muscle
25	chr11:25634200-25635600	Enhancers	Fetal Lung	lung
26	chr11:25634800-25636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:25635200-25640200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:25635600-25636600	Weak transcription	Fetal Lung	lung
29	chr11:25636400-25637800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:25636600-25636800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:25636600-25636800	Enhancers	Fetal Lung	lung
32	chr11:25636800-25637200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:25637000-25637200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:25637200-25637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:25637200-25637800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:25637200-25637800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:25637200-25637800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:25637400-25637600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:25637600-25638000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:25640200-25640400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:25640400-25641400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:25641400-25641600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:25649400-25649800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:25670800-25671400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:25671000-25671400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:25671200-25672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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