Variant report

Variant	nsv897130
Chromosome Location	chr11:25404792-25565519
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	ATF1	chr11:25544434-25544847	K562	blood:	n/a	n/a
2	CEBPB	chr11:25538655-25539020	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:25506909-25507229	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:25416211-25416733	Hela-S3	cervix:	n/a	chr11:25416574-25416585 chr11:25416289-25416302
5	CEBPB	chr11:25445309-25445536	HepG2	liver:	n/a	chr11:25445395-25445406
6	CEBPB	chr11:25419380-25419622	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:25557121-25557458	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:25531713-25531942	HepG2	liver:	n/a	chr11:25531815-25531828 chr11:25531835-25531846 chr11:25531834-25531847
9	CEBPB	chr11:25559142-25559348	A549	lung:	n/a	chr11:25559275-25559286
10	CEBPB	chr11:25408690-25408973	HepG2	liver:	n/a	chr11:25408812-25408823 chr11:25408812-25408825 chr11:25408738-25408750
11	CEBPB	chr11:25431729-25431969	HepG2	liver:	n/a	chr11:25431857-25431868 chr11:25431855-25431872 chr11:25431856-25431869
12	CEBPB	chr11:25414710-25414922	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:25538674-25539021	HepG2	liver:	n/a	n/a
14	CEBPB	chr11:25564061-25564326	HepG2	liver:	n/a	chr11:25564202-25564213
15	CEBPB	chr11:25564104-25564335	H1-hESC	embryonic stem cell:	n/a	chr11:25564202-25564213
16	CEBPB	chr11:25408737-25408938	Hela-S3	cervix:	n/a	chr11:25408812-25408823 chr11:25408812-25408825 chr11:25408738-25408750
17	CEBPB	chr11:25418447-25418894	HepG2	liver:	n/a	chr11:25418552-25418563 chr11:25418542-25418555 chr11:25418543-25418554 chr11:25418554-25418563
18	CEBPB	chr11:25418371-25418804	Hela-S3	cervix:	n/a	chr11:25418552-25418563 chr11:25418542-25418555 chr11:25418543-25418554 chr11:25418554-25418563
19	CHD1	chr11:25532303-25532313	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:25564768-25564859	K562	blood:	n/a	n/a
21	CTCF	chr11:25458105-25458131	Lung_OC	lung:	n/a	n/a
22	CTCF	chr11:25506460-25506610	HepG2	liver:	n/a	n/a
23	CTCF	chr11:25528304-25528325	GM10266	blood:	n/a	n/a
24	CTCF	chr11:25472896-25472920	GM10248	blood:	n/a	n/a
25	CTCF	chr11:25422960-25423110	NHLF	lung:	n/a	n/a
26	CTCF	chr11:25468491-25468515	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:25508911-25508938	Spleen_OC	spleen:	n/a	n/a
28	E2F4	chr11:25479567-25479637	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr11:25432882-25433082	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr11:25469599-25469946	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr11:25440003-25440159	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr11:25422556-25422756	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr11:25412478-25412537	MCF10A-Er-Src	breast:	n/a	chr11:25412484-25412493
34	E2F4	chr11:25490276-25490328	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr11:25445431-25445638	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F6	chr11:25470177-25470516	H1-hESC	embryonic stem cell:	n/a	n/a
37	EBF1	chr11:25464163-25464428	GM12878	blood:	n/a	n/a
38	EP300	chr11:25470367-25471361	SK-N-SH	brain:	n/a	n/a
39	EP300	chr11:25456908-25457133	HepG2	liver:	n/a	n/a
40	EP300	chr11:25464117-25465171	SK-N-SH	brain:	n/a	chr11:25464264-25464278 chr11:25464870-25464884 chr11:25464490-25464500
41	EP300	chr11:25470582-25471047	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr11:25501093-25501212	K562	blood:	n/a	n/a
43	EP300	chr11:25418428-25418732	Hela-S3	cervix:	n/a	chr11:25418680-25418694
44	EP300	chr11:25470546-25471045	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr11:25416186-25416622	Hela-S3	cervix:	n/a	chr11:25416517-25416525 chr11:25416309-25416317
46	FAM48A	chr11:25412455-25412629	GM12878	blood:	n/a	n/a
47	FOS	chr11:25445442-25445591	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr11:25454011-25454235	MCF10A-Er-Src	breast:	n/a	chr11:25454137-25454145 chr11:25454138-25454145 chr11:25454137-25454145
49	FOS	chr11:25475147-25475335	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr11:25557050-25557254	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:25537660-25537710	IMR90	lung:	fetal
2	chr11:25537461-25537511	PrEC	prostate:	n/a
3	chr11:25537660-25537710	HMEC	breast:	n/a
4	chr11:25537660-25537710	GM06990	blood:	n/a
5	chr11:25537660-25537710	HRPEpiC	eye:	n/a
6	chr11:25537660-25537710	ovcar-3	ovarian:	n/a
7	chr11:25537461-25537511	A549	lung:	n/a
8	chr11:25537461-25537511	GM12891	blood:	n/a
9	chr11:25537461-25537511	GM12878	blood:	n/a
10	chr11:25537461-25537511	K562	blood:	n/a
11	chr11:25537660-25537710	AG09319	gingival:	n/a
12	chr11:25537660-25537710	T-47D	breast:	n/a
13	chr11:25537461-25537511	ECC-1	luminal epithelium:	n/a
14	chr11:25537461-25537511	Caco-2	colon:	n/a
15	chr11:25537660-25537710	AoSMC	blood vessel:	n/a
16	chr11:25537660-25537710	GM12878	blood:	n/a
17	chr11:25537461-25537511	AG09319	gingival:	n/a
18	chr11:25537461-25537511	HUVEC	blood vessel:	n/a
19	chr11:25537660-25537710	LNCaP	prostate:	n/a
20	chr11:25537660-25537710	K562	blood:	n/a
21	chr11:25537461-25537511	Hepatocyte	liver:	n/a
22	chr11:25537461-25537511	NT2-D1	testis:	n/a
23	chr11:25537461-25537511	ProgFib	skin:	n/a
24	chr11:25537461-25537511	U87	brain:	n/a
25	chr11:25537461-25537511	GM19239	blood:	n/a
26	chr11:25537660-25537710	Jurkat	blood:	n/a
27	chr11:25537461-25537511	SK-N-SH	brain:	n/a
28	chr11:25537461-25537511	MCF10A-Er-Src	breast:	n/a
29	chr11:25537660-25537710	HAEpiC	amniotic membrane:	n/a
30	chr11:25537461-25537511	AG04449	skin:	fetal
31	chr11:25537461-25537511	HIPEpiC	eye:	n/a
32	chr11:25537660-25537710	SK-N-MC	brain:	n/a
33	chr11:25537660-25537710	NT2-D1	testis:	n/a
34	chr11:25537461-25537511	HRPEpiC	eye:	n/a
35	chr11:25537461-25537511	AG10803	skin:	n/a
36	chr11:25537660-25537710	HUVEC	blood vessel:	n/a
37	chr11:25537461-25537511	BJ	skin:	n/a
38	chr11:25537461-25537511	NB4	blood:	n/a
39	chr11:25537461-25537511	HepG2	liver:	n/a
40	chr11:25537660-25537710	Hepatocyte	liver:	n/a
41	chr11:25537660-25537710	HL-60	blood:	n/a
42	chr11:25537660-25537710	HEK293	kidney:	embryo
43	chr11:25537461-25537511	IMR90	lung:	fetal
44	chr11:25537660-25537710	PrEC	prostate:	n/a
45	chr11:25537461-25537511	AG09309	skin:	n/a
46	chr11:25537660-25537710	AG04450	lung:	fetal
47	chr11:25537461-25537511	RPTEC	kidney:	n/a
48	chr11:25537461-25537511	HEEpiC	esophagus:	n/a
49	chr11:25537660-25537710	HepG2	liver:	n/a
50	chr11:25537461-25537511	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:25527410..25530094-chr11:25531734..25534138,2	K562	blood:
2	chr11:25527410..25530094-chr11:25531734..25534138,2	K562	blood:
3	chr11:25415265..25417629-chr11:25420045..25422355,2	MCF-7	breast:
4	chr11:25409717..25412034-chr11:25416145..25417905,2	K562	blood:
5	chr11:25383494..25385601-chr11:25405525..25407824,2	K562	blood:
6	chr11:25409717..25412034-chr11:25416145..25417905,2	K562	blood:
7	chr11:25415265..25417629-chr11:25420045..25422355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265837	TF binding region
ENSG00000265837	CpG island

Extended variants
information (count: 1449 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566780213	chr11:25405409-25405410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538428986	chr11:25405414-25405415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370021558	chr11:25405421-25405422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539031181	chr11:25405422-25405423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12184438	chr11:25405425-25405426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186530637	chr11:25405453-25405454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147287854	chr11:25405454-25405455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2404079	chr11:25405488-25405489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73441790	chr11:25405510-25405511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190991889	chr11:25405599-25405600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559786369	chr11:25405669-25405670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533423874	chr11:25405680-25405681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539988196	chr11:25405770-25405771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560173806	chr11:25405796-25405797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532027296	chr11:25405814-25405815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545389023	chr11:25405835-25405836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574602156	chr11:25405837-25405838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2404080	chr11:25405853-25405854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553731330	chr11:25405882-25405883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564099858	chr11:25405902-25405903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10834673	chr11:25405908-25405909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs551219050	chr11:25405951-25405952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16913928	chr11:25405966-25405967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374389806	chr11:25405975-25405976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372146587	chr11:25405995-25405996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112913603	chr11:25406044-25406045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564474925	chr11:25406065-25406066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73441795	chr11:25406068-25406069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566944985	chr11:25406116-25406117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539095106	chr11:25406122-25406123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139389356	chr11:25406128-25406129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531860397	chr11:25406174-25406175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371472478	chr11:25406183-25406184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553553559	chr11:25406262-25406263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538153559	chr11:25406287-25406288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115338504	chr11:25406301-25406302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4922713	chr11:25406316-25406317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565349845	chr11:25406328-25406329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183301111	chr11:25406400-25406401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539115335	chr11:25406415-25406416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553630107	chr11:25406423-25406424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184938330	chr11:25406428-25406429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149429834	chr11:25406468-25406469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562157998	chr11:25406504-25406505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529396729	chr11:25406512-25406513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533978181	chr11:25406513-25406514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376021282	chr11:25406539-25406540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575615307	chr11:25406556-25406557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544604758	chr11:25406672-25406673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189802911	chr11:25406679-25406680	Weak transcription	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25405400-25410000	Weak transcription	Right Atrium	heart
2	chr11:25424000-25424200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:25444800-25445600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:25445000-25445400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:25445000-25445400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:25445000-25445400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:25445000-25445400	Enhancers	Small Intestine	intestine
8	chr11:25445200-25445800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:25445200-25446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:25446800-25447400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:25456000-25456800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:25456400-25457800	Enhancers	HepG2	liver
13	chr11:25456600-25457400	Enhancers	Liver	Liver
14	chr11:25460000-25460200	Enhancers	Fetal Kidney	kidney
15	chr11:25462400-25463000	Enhancers	Brain Germinal Matrix	brain
16	chr11:25462400-25463200	Enhancers	Fetal Lung	lung
17	chr11:25462400-25464400	Enhancers	Fetal Stomach	stomach
18	chr11:25462600-25463400	Enhancers	Fetal Kidney	kidney
19	chr11:25462600-25464200	Enhancers	Adipose Nuclei	Adipose
20	chr11:25462800-25464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:25463000-25464200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:25463000-25464400	Enhancers	Colon Smooth Muscle	Colon
23	chr11:25463200-25463400	Enhancers	Liver	Liver
24	chr11:25463200-25464000	Weak transcription	Fetal Lung	lung
25	chr11:25464000-25464400	Enhancers	Fetal Lung	lung
26	chr11:25464200-25464400	Enhancers	Liver	Liver
27	chr11:25464400-25464800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr11:25470600-25471000	Enhancers	Fetal Brain Male	brain
29	chr11:25470600-25471200	Enhancers	Fetal Lung	lung
30	chr11:25475200-25475600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:25478400-25479400	Enhancers	Brain Germinal Matrix	brain
32	chr11:25498800-25499600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:25503400-25503600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:25503600-25507400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:25504200-25504600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:25504600-25507000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:25505800-25506200	Enhancers	Fetal Lung	lung
38	chr11:25506000-25507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:25506200-25506600	Weak transcription	Fetal Lung	lung
40	chr11:25506600-25507000	Enhancers	Fetal Kidney	kidney
41	chr11:25506600-25508000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:25506600-25508200	Enhancers	Fetal Lung	lung
43	chr11:25506800-25508200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:25506800-25508200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:25507000-25507200	Bivalent Enhancer	Liver	Liver
46	chr11:25507000-25507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:25507000-25507600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr11:25507000-25507600	Enhancers	Hela-S3	cervix
49	chr11:25507000-25508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:25507200-25507400	Enhancers	Liver	Liver

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