Variant report

Variant	nsv1044636
Chromosome Location	chr11:25633583-25764193
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	ARID3A	chr11:25758683-25759020	HepG2	liver:	n/a	n/a
2	ATF1	chr11:25756688-25756790	K562	blood:	n/a	n/a
3	BACH1	chr11:25723954-25723977	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr11:25748088-25748207	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:25654764-25655080	HepG2	liver:	n/a	chr11:25654930-25654941
6	CEBPB	chr11:25636635-25637011	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:25760351-25760543	A549	lung:	n/a	chr11:25760460-25760471
8	CEBPB	chr11:25654801-25655170	MCF-7	breast:	n/a	chr11:25654930-25654941
9	CEBPB	chr11:25654797-25655096	A549	lung:	n/a	chr11:25654930-25654941
10	CEBPB	chr11:25654846-25655049	MCF-7	breast:	n/a	chr11:25654930-25654941
11	CEBPB	chr11:25756183-25756490	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr11:25654767-25655104	IMR90	lung:	n/a	chr11:25654930-25654941
13	CEBPB	chr11:25734574-25734774	HepG2	liver:	n/a	chr11:25734672-25734683
14	CEBPB	chr11:25654755-25655103	Hela-S3	cervix:	n/a	chr11:25654930-25654941
15	CEBPB	chr11:25654759-25654990	H1-hESC	embryonic stem cell:	n/a	chr11:25654930-25654941
16	CEBPB	chr11:25760363-25760551	K562	blood:	n/a	chr11:25760460-25760471
17	CEBPB	chr11:25732290-25733191	Hela-S3	cervix:	n/a	chr11:25732793-25732805
18	CEBPB	chr11:25760324-25760536	HepG2	liver:	n/a	chr11:25760460-25760471
19	CEBPB	chr11:25755348-25755781	Hela-S3	cervix:	n/a	chr11:25755487-25755500
20	CHD1	chr11:25756180-25756251	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:25755420-25755570	HCPEpiC	choroid plexus:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
22	CTCF	chr11:25756240-25756390	AoAF	blood vessel:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
23	CTCF	chr11:25756095-25756456	MCF-7	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
24	CTCF	chr11:25755361-25755615	H1-hESC	embryonic stem cell:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
25	CTCF	chr11:25755380-25755530	AG04449	skin:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
26	CTCF	chr11:25756280-25756430	RPTEC	kidney:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
27	CTCF	chr11:25755400-25755550	HMEC	breast:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
28	CTCF	chr11:25755440-25755590	HMEC	breast:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
29	CTCF	chr11:25756190-25756397	HepG2	liver:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
30	CTCF	chr11:25756280-25756430	HRPEpiC	eye:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
31	CTCF	chr11:25755985-25756670	SK-N-SH	brain:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
32	CTCF	chr11:25755420-25755570	Hela-S3	cervix:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
33	CTCF	chr11:25756240-25756390	HMEC	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
34	CTCF	chr11:25755397-25755653	IMR90	lung:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
35	CTCF	chr11:25756260-25756410	HRPEpiC	eye:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
36	CTCF	chr11:25756260-25756410	SK-N-SH_RA	brain:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
37	CTCF	chr11:25756260-25756410	WERI-Rb-1	eye:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
38	CTCF	chr11:25677951-25678048	GM10248	blood:	n/a	n/a
39	CTCF	chr11:25756248-25756442	LNCaP	prostate:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
40	CTCF	chr11:25756240-25756390	HUVEC	blood vessel:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
41	CTCF	chr11:25756282-25756424	ProgFib	skin:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
42	CTCF	chr11:25755420-25755570	AoAF	blood vessel:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
43	CTCF	chr11:25755420-25755570	SK-N-SH_RA	brain:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
44	CTCF	chr11:25755400-25755550	HCPEpiC	choroid plexus:	n/a	chr11:25755493-25755514 chr11:25755498-25755516
45	CTCF	chr11:25756240-25756390	SAEC	small airway:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
46	CTCF	chr11:25756227-25756441	MCF-7	breast:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
47	CTCF	chr11:25756300-25756450	BE2_C	brain:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
48	CTCF	chr11:25678478-25678527	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr11:25756240-25756390	GM12878	blood:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355
50	CTCF	chr11:25756260-25756410	HPAF	blood vessel:	n/a	chr11:25756332-25756353 chr11:25756338-25756354 chr11:25756337-25756355

No.	Distal block	Cell Line	Cell type
1	chr11:24801274..24801786-chr11:25755056..25755745,2	MCF-7	breast:
2	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:
3	chr11:25709860..25710784-chr18:64774033..64774666,2	MCF-7	breast:
4	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
5	chr11:24802835..24803539-chr11:25755478..25755981,2	MCF-7	breast:
6	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANO3-3	chr11:25756317-25756416	ENSG00000254456
2	lnc-ANO3-3	chr11:25762023-25762107	ENSG00000254456
3	lnc-ANO3-3	chr11:25762023-25762107	NONHSAT018451
4	lnc-ANO3-3	chr11:25756356-25756416	ENSG00000254456
5	lnc-LUZP2-2	chr11:25652266-25652587	NONHSAT018449
6	lnc-ANO3-3	chr11:25756317-25756416	ENSG00000254456
7	lnc-ANO3-3	chr11:25756317-25756416	NONHSAT018451
8	lnc-ANO3-3	chr11:25762023-25762107	ENSG00000254456

Variant related genes	Relation type
ENSG00000255454	TF binding region
ENSG00000254456	TF binding region

Extended variants
information (count: 2689 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2689 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12146584	chr11:25633583-25633584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147920842	chr11:25633585-25633586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557994806	chr11:25633591-25633592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567035864	chr11:25633596-25633597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181787852	chr11:25633616-25633617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556021423	chr11:25633617-25633618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186490141	chr11:25633633-25633634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541386197	chr11:25633658-25633659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556556866	chr11:25633686-25633687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574969554	chr11:25633702-25633703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76156380	chr11:25633747-25633748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567463475	chr11:25633749-25633750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10834714	chr11:25633758-25633759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568591132	chr11:25633795-25633796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535682137	chr11:25633801-25633802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540102093	chr11:25633826-25633827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561922551	chr11:25633832-25633833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529218643	chr11:25633849-25633850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1080714	chr11:25633873-25633874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34163590	chr11:25633884-25633885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565805491	chr11:25633917-25633918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191344726	chr11:25633973-25633974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34389620	chr11:25633980-25633981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569252578	chr11:25634004-25634005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533202922	chr11:25634032-25634033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72872955	chr11:25634061-25634062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566897170	chr11:25634081-25634082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534357783	chr11:25634111-25634112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3891779	chr11:25634124-25634125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555553287	chr11:25634130-25634131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140116617	chr11:25634155-25634156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538171517	chr11:25634165-25634166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116773764	chr11:25634168-25634169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574878573	chr11:25634171-25634172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545522543	chr11:25634206-25634207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368201881	chr11:25634210-25634211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572859979	chr11:25634223-25634224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114698656	chr11:25634238-25634239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576031222	chr11:25634239-25634240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561885821	chr11:25634275-25634276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543026878	chr11:25634302-25634303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115199668	chr11:25634305-25634306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35483846	chr11:25634351-25634352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544499583	chr11:25634362-25634363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11028794	chr11:25634366-25634367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533355852	chr11:25634370-25634371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142262041	chr11:25634372-25634373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115534934	chr11:25634412-25634413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371885981	chr11:25634422-25634423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182664073	chr11:25634448-25634449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25632400-25637400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:25633400-25637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:25633600-25635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:25634200-25634800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:25634200-25634800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:25634200-25634800	Enhancers	Fetal Muscle Leg	muscle
7	chr11:25634200-25635600	Enhancers	Fetal Lung	lung
8	chr11:25634800-25636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:25635200-25640200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:25635600-25636600	Weak transcription	Fetal Lung	lung
11	chr11:25636400-25637800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:25636600-25636800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:25636600-25636800	Enhancers	Fetal Lung	lung
14	chr11:25636800-25637200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:25637000-25637200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:25637200-25637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:25637200-25637800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:25637200-25637800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:25637200-25637800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:25637400-25637600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:25637600-25638000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:25640200-25640400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:25640400-25641400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:25641400-25641600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:25649400-25649800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:25670800-25671400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:25671000-25671400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:25671200-25672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:25675000-25677800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:25677400-25678000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:25677800-25678000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:25678000-25685800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:25680400-25681200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:25680600-25681000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:25681400-25681800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:25685800-25686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:25686000-25691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:25688000-25688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:25688600-25689800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:25689800-25690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:25690000-25691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:25690200-25690600	Enhancers	Ovary	ovary
43	chr11:25691600-25691800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:25697400-25698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:25698000-25698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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