Variant report

Variant	nsv897113
Chromosome Location	chr11:24997660-25169641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:254)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:25009070-25009258	K562	blood:	n/a	n/a
2	ATF1	chr11:25081871-25082042	K562	blood:	n/a	n/a
3	BHLHE40	chr11:25158684-25158720	GM12878	blood:	n/a	n/a
4	CBX3	chr11:25021767-25022037	K562	blood:	n/a	n/a
5	CEBPB	chr11:25087024-25087563	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr11:25159359-25159440	K562	blood:	n/a	chr11:25159402-25159413
7	CEBPB	chr11:25115693-25115948	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:25141487-25142080	Hela-S3	cervix:	n/a	chr11:25141910-25141921
9	CEBPB	chr11:25141777-25142021	A549	lung:	n/a	chr11:25141910-25141921
10	CEBPB	chr11:25141454-25142097	IMR90	lung:	n/a	chr11:25141910-25141921
11	CEBPB	chr11:25115739-25115908	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:25039084-25039295	Hela-S3	cervix:	n/a	chr11:25039206-25039217
13	CEBPB	chr11:24999430-24999689	HepG2	liver:	n/a	chr11:24999574-24999585 chr11:24999555-24999566 chr11:24999597-24999610
14	CEBPB	chr11:25086865-25087560	IMR90	lung:	n/a	n/a
15	CEBPB	chr11:25059803-25060143	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:25141770-25142081	HepG2	liver:	n/a	chr11:25141910-25141921
17	CEBPB	chr11:25039134-25039334	HepG2	liver:	n/a	chr11:25039206-25039217
18	CTCF	chr11:25152746-25152799	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr11:25026600-25026750	HCFaa	heart:	n/a	n/a
20	CTCF	chr11:25126821-25126900	GM10248	blood:	n/a	n/a
21	CTCF	chr11:25152720-25152870	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr11:25005740-25005890	AG10803	skin:	n/a	n/a
23	CTCF	chr11:25026580-25026730	HepG2	liver:	n/a	n/a
24	CTCF	chr11:25050560-25050577	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:25005560-25005710	HPF	lung:	n/a	n/a
26	CTCF	chr11:25150541-25150617	GM20000	blood:	n/a	n/a
27	CTCF	chr11:25086730-25086802	GM10248	blood:	n/a	n/a
28	CTCF	chr11:25077081-25077165	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr11:25021866-25021920	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:25152740-25152890	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr11:25050510-25050590	GM13977	blood:	n/a	n/a
32	CTCF	chr11:25152725-25152848	NHEK	skin:	n/a	n/a
33	CTCF	chr11:25132267-25132303	GM13976	blood:	n/a	n/a
34	E2F4	chr11:25121106-25121305	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr11:25087027-25087420	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr11:25020229-25020387	MCF10A-Er-Src	breast:	n/a	chr11:25020286-25020295
37	EP300	chr11:25004598-25004885	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr11:25087181-25087560	Hela-S3	cervix:	n/a	chr11:25087448-25087455
39	EP300	chr11:25004338-25005203	SK-N-SH	brain:	n/a	n/a
40	EP300	chr11:25087327-25087423	GM12878	blood:	n/a	n/a
41	FAM48A	chr11:25119491-25119534	GM12878	blood:	n/a	n/a
42	FOS	chr11:25086817-25087747	MCF10A-Er-Src	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
43	FOS	chr11:25117043-25117216	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr11:25089964-25090338	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr11:25087079-25087650	MCF10A-Er-Src	breast:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
46	FOS	chr11:25116602-25116607	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr11:25087146-25087610	HUVEC	blood vessel:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422
48	FOS	chr11:25020659-25020664	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr11:25089954-25090430	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr11:25087201-25087573	Hela-S3	cervix:	n/a	chr11:25087349-25087361 chr11:25087351-25087359 chr11:25087205-25087219 chr11:25087411-25087422

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:25001602-25001652	SK-N-SH	brain:	n/a
2	chr11:25070714-25070764	BJ	skin:	n/a
3	chr11:25070714-25070764	CMK	blood:	n/a
4	chr11:25070714-25070764	ovcar-3	ovarian:	n/a
5	chr11:25070714-25070764	GM12891	blood:	n/a
6	chr11:25001602-25001652	HL-60	blood:	n/a
7	chr11:25070714-25070764	AG09309	skin:	n/a
8	chr11:25070714-25070764	HL-60	blood:	n/a
9	chr11:25070714-25070764	PANC-1	pancreas:	n/a
10	chr11:25070714-25070764	AG10803	skin:	n/a
11	chr11:25070714-25070764	AoSMC	blood vessel:	n/a
12	chr11:25070714-25070764	HRCEpiC	kidney:	n/a
13	chr11:25070714-25070764	HCF	heart:	n/a
14	chr11:25070714-25070764	NT2-D1	testis:	n/a
15	chr11:25001602-25001652	MCF-7	breast:	n/a
16	chr11:25001602-25001652	T-47D	breast:	n/a
17	chr11:25070714-25070764	GM19239	blood:	n/a
18	chr11:25001602-25001652	HUVEC	blood vessel:	n/a
19	chr11:25001602-25001652	NB4	blood:	n/a
20	chr11:25070714-25070764	NH-A	brain:	n/a
21	chr11:25070714-25070764	SAEC	small airway:	n/a
22	chr11:25070714-25070764	MCF-7	breast:	n/a
23	chr11:25001602-25001652	AG10803	skin:	n/a
24	chr11:25001602-25001652	LNCaP	prostate:	n/a
25	chr11:25001602-25001652	GM12878	blood:	n/a
26	chr11:25001602-25001652	SAEC	small airway:	n/a
27	chr11:25001602-25001652	GM12892	blood:	n/a
28	chr11:25070714-25070764	LNCaP	prostate:	n/a
29	chr11:25001602-25001652	Jurkat	blood:	n/a
30	chr11:25001602-25001652	HCPEpiC	choroid plexus:	n/a
31	chr11:25001602-25001652	AG04450	lung:	fetal
32	chr11:25001602-25001652	Caco-2	colon:	n/a
33	chr11:25070714-25070764	HCPEpiC	choroid plexus:	n/a
34	chr11:25070714-25070764	Caco-2	colon:	n/a
35	chr11:25001602-25001652	PFSK-1	brain:	n/a
36	chr11:25001602-25001652	AG04449	skin:	fetal
37	chr11:25070714-25070764	U87	brain:	n/a
38	chr11:25001602-25001652	ovcar-3	ovarian:	n/a
39	chr11:25001602-25001652	PANC-1	pancreas:	n/a
40	chr11:25001602-25001652	Hepatocyte	liver:	n/a
41	chr11:25001602-25001652	NHDF-neo	bronchial:	n/a
42	chr11:25001602-25001652	H1-hESC	embryonic stem cell:	embryo
43	chr11:25001602-25001652	BJ	skin:	n/a
44	chr11:25070714-25070764	GM06990	blood:	n/a
45	chr11:25001602-25001652	PrEC	prostate:	n/a
46	chr11:25070714-25070764	BE2_C	brain:	n/a
47	chr11:25070714-25070764	IMR90	lung:	fetal
48	chr11:25070714-25070764	HUVEC	blood vessel:	n/a
49	chr11:25001602-25001652	AoSMC	blood vessel:	n/a
50	chr11:25001602-25001652	BE2_C	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:25033492..25034324-chr14:24994179..24994819,2	MCF-7	breast:
2	chr11:24996714..24999047-chr11:25009138..25011539,2	K562	blood:
3	chr11:22849480..22851377-chr11:25062549..25065391,2	K562	blood:
4	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
5	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
6	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
7	chr11:24996714..24999047-chr11:25009138..25011539,2	K562	blood:
8	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255368	TF binding region
ENSG00000255368	CpG island
ENSG00000246225	chromatin interactions
ENSG00000198168	chromatin interactions

Extended variants
information (count: 995 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:995 , 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	rs151160437	chr11:25001689-25001690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536364886	chr11:25001695-25001696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1374148	chr11:25001727-25001728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1446196	chr11:25001743-25001744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566532987	chr11:25001761-25001762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139706343	chr11:25001783-25001784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201147091	chr11:25001794-25001795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5790448	chr11:25001831-25001832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397940622	chr11:25001837-25001838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558619700	chr11:25001843-25001844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144351306	chr11:25001848-25001849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1374147	chr11:25001869-25001870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554690448	chr11:25001876-25001877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12278764	chr11:25001934-25001935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12278802	chr11:25001994-25001995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146649016	chr11:25001996-25001997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576804750	chr11:25002019-25002020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1562271	chr11:25002063-25002064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181223204	chr11:25002090-25002091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1562270	chr11:25002123-25002124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184882484	chr11:25002143-25002144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561170003	chr11:25002172-25002173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191107732	chr11:25002190-25002191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183696723	chr11:25002202-25002203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1562269	chr11:25002255-25002256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141416639	chr11:25002260-25002261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552425805	chr11:25002264-25002265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189176480	chr11:25002340-25002341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538159215	chr11:25002399-25002400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554756026	chr11:25002430-25002431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568269838	chr11:25002470-25002471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1446195	chr11:25002471-25002472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141243059	chr11:25002474-25002475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183186357	chr11:25002505-25002506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76833895	chr11:25002513-25002514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150201831	chr11:25002565-25002566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187552898	chr11:25002575-25002576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549497721	chr11:25002578-25002579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575822281	chr11:25002672-25002673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370247368	chr11:25002676-25002677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79581095	chr11:25002680-25002681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561108518	chr11:25002781-25002782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6484091	chr11:25002787-25002788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12801145	chr11:25002809-25002810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560411431	chr11:25002959-25002960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34789551	chr11:25002964-25002965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191626206	chr11:25002991-25002992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552255285	chr11:25003015-25003016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1446194	chr11:25003031-25003032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531464552	chr11:25003053-25003054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25001600-25002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:25001600-25003200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:25001600-25003200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:25002000-25002800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:25002200-25002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:25002200-25002800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:25002200-25003000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:25002200-25003000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:25002400-25002800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:25002400-25003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:25002800-25004400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:25002800-25004400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:25002800-25004600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:25003000-25004400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:25003200-25004600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:25003200-25004600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:25003400-25003800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:25003800-25004000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:25004000-25004800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:25004400-25005600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:25004400-25006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:25004400-25006000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:25004600-25005200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:25004600-25006000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:25004600-25006000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:25004800-25005600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:25006400-25007200	Enhancers	Fetal Kidney	kidney
28	chr11:25009000-25009400	Enhancers	Fetal Intestine Large	intestine
29	chr11:25029600-25030000	ZNF genes & repeats	Pancreas	Pancrea
30	chr11:25044600-25044800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:25058600-25060800	Enhancers	Fetal Heart	heart
32	chr11:25068600-25069400	Enhancers	Brain Germinal Matrix	brain
33	chr11:25069400-25069600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:25069400-25070000	Enhancers	Fetal Heart	heart
35	chr11:25069600-25070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:25069600-25070600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:25069800-25071600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:25070000-25070400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:25070000-25072200	Weak transcription	Fetal Heart	heart
40	chr11:25070400-25071000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:25070600-25071000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:25070600-25071000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:25070600-25071200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:25070600-25071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:25072200-25074000	Enhancers	Fetal Heart	heart
46	chr11:25079000-25079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:25086600-25087000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:25086800-25088000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr11:25086800-25088400	Enhancers	Hela-S3	cervix
50	chr11:25086800-25088600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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