Variant report

Variant	nsv897484
Chromosome Location	chr11:49042866-49162948
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	CEBPB	chr11:49131188-49131388	A549	lung:	n/a	n/a
2	CTCF	chr11:49071985-49072040	LNCaP	prostate:	n/a	n/a
3	CTCF	chr11:49104077-49104129	GM10248	blood:	n/a	n/a
4	CTCF	chr11:49092004-49092046	GM20000	blood:	n/a	n/a
5	CTCF	chr11:49070403-49070741	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
6	CTCF	chr11:49067101-49067189	GM13977	blood:	n/a	n/a
7	CTCF	chr11:49070401-49070689	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
8	CTCF	chr11:49091372-49091416	GM20000	blood:	n/a	n/a
9	CTCF	chr11:49071340-49071490	HEK293	kidney:	n/a	n/a
10	CTCF	chr11:49048063-49048097	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr11:49071523-49071763	K562	blood:	n/a	n/a
12	CTCF	chr11:49145521-49145567	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr11:49070476-49070576	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
14	CTCF	chr11:49092679-49092714	Medullo	brain:	n/a	chr11:49092683-49092701
15	CTCF	chr11:49146614-49146686	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:49070501-49070571	Pancreas_OC	pancreas:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
17	CTCF	chr11:49071540-49071761	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:49071437-49071480	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:49048171-49048237	GM20000	blood:	n/a	n/a
20	CTCF	chr11:49089926-49089944	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr11:49087338-49087430	Lung_OC	lung:	n/a	n/a
22	CTCF	chr11:49098521-49098572	GM13976	blood:	n/a	chr11:49098536-49098544
23	CTCF	chr11:49098193-49098278	Lung_OC	lung:	n/a	n/a
24	CTCF	chr11:49130096-49130142	GM10248	blood:	n/a	n/a
25	CTCF	chr11:49053116-49053137	LNCaP	prostate:	n/a	n/a
26	CTCF	chr11:49100463-49100499	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:49127919-49127961	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:49092621-49092790	A549	lung:	n/a	chr11:49092683-49092701
29	CTCF	chr11:49106248-49106299	GM10266	blood:	n/a	n/a
30	CTCF	chr11:49107115-49107175	GM10248	blood:	n/a	n/a
31	CTCF	chr11:49085811-49085890	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr11:49067670-49067676	GM13976	blood:	n/a	n/a
33	CTCF	chr11:49098901-49098918	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr11:49050048-49050098	GM13976	blood:	n/a	n/a
35	CTCF	chr11:49052021-49052104	GM13976	blood:	n/a	n/a
36	CTCF	chr11:49070398-49070685	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
37	CTCF	chr11:49080840-49080919	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr11:49139804-49139861	Lung_OC	lung:	n/a	n/a
39	CTCF	chr11:49093313-49093371	GM13977	blood:	n/a	n/a
40	CTCF	chr11:49137381-49137434	Medullo	brain:	n/a	n/a
41	CTCF	chr11:49104378-49104448	GM10266	blood:	n/a	n/a
42	CTCF	chr11:49061169-49061228	GM13977	blood:	n/a	n/a
43	CTCF	chr11:49071434-49071865	K562	blood:	n/a	n/a
44	CTCF	chr11:49067908-49067939	LNCaP	prostate:	n/a	n/a
45	CTCF	chr11:49067615-49067665	GM13976	blood:	n/a	n/a
46	CTCF	chr11:49152811-49152868	Pancreas_OC	pancreas:	n/a	n/a
47	FOS	chr11:49100396-49100622	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr11:49100444-49100609	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr11:49100389-49100651	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr11:49100376-49100608	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49073835-49073885	HL-60	blood:	n/a
2	chr11:49073835-49073885	HL-60	blood:	n/a
3	chr11:49070231-49070281	NH-A	brain:	n/a
4	chr11:49071763-49071813	HRPEpiC	eye:	n/a
5	chr11:49124090-49124140	GM06990	blood:	n/a
6	chr11:49123325-49123375	Caco-2	colon:	n/a
7	chr11:49070637-49070687	HIPEpiC	eye:	n/a
8	chr11:49123970-49124020	HNPCEpiC	eye:	n/a
9	chr11:49073835-49073885	AG10803	skin:	n/a
10	chr11:49124791-49124841	AG09309	skin:	n/a
11	chr11:49120127-49120177	ovcar-3	ovarian:	n/a
12	chr11:49049039-49049089	GM12891	blood:	n/a
13	chr11:49081540-49081590	GM12878	blood:	n/a
14	chr11:49081540-49081590	Hela-S3	cervix:	n/a
15	chr11:49128127-49128177	PFSK-1	brain:	n/a
16	chr11:49071438-49071488	PrEC	prostate:	n/a
17	chr11:49124090-49124140	SKMC	muscle:	n/a
18	chr11:49124090-49124140	PrEC	prostate:	n/a
19	chr11:49124090-49124140	HepG2	liver:	n/a
20	chr11:49081540-49081590	Caco-2	colon:	n/a
21	chr11:49073835-49073885	HAEpiC	amniotic membrane:	n/a
22	chr11:49124791-49124841	Hela-S3	cervix:	n/a
23	chr11:49081540-49081590	NH-A	brain:	n/a
24	chr11:49124090-49124140	HCT-116	colon:	n/a
25	chr11:49120127-49120177	HCT-116	colon:	n/a
26	chr11:49123325-49123375	HCF	heart:	n/a
27	chr11:49071763-49071813	AG09319	gingival:	n/a
28	chr11:49070231-49070281	H1-hESC	embryonic stem cell:	embryo
29	chr11:49081540-49081590	AG09309	skin:	n/a
30	chr11:49049039-49049089	H1-hESC	embryonic stem cell:	embryo
31	chr11:49049039-49049089	AoSMC	blood vessel:	n/a
32	chr11:49124090-49124140	GM12892	blood:	n/a
33	chr11:49071438-49071488	ovcar-3	ovarian:	n/a
34	chr11:49123325-49123375	AG10803	skin:	n/a
35	chr11:49072348-49072398	SK-N-MC	brain:	n/a
36	chr11:49070637-49070687	HEEpiC	esophagus:	n/a
37	chr11:49070637-49070687	HepG2	liver:	n/a
38	chr11:49071763-49071813	HAEpiC	amniotic membrane:	n/a
39	chr11:49070231-49070281	BJ	skin:	n/a
40	chr11:49124090-49124140	Caco-2	colon:	n/a
41	chr11:49070005-49070055	GM19239	blood:	n/a
42	chr11:49123325-49123375	NB4	blood:	n/a
43	chr11:49068653-49068703	PFSK-1	brain:	n/a
44	chr11:49124090-49124140	SK-N-SH	brain:	n/a
45	chr11:49124111-49124161	ovcar-3	ovarian:	n/a
46	chr11:49124791-49124841	AG10803	skin:	n/a
47	chr11:49068653-49068703	Hepatocyte	liver:	n/a
48	chr11:49071763-49071813	NT2-D1	testis:	n/a
49	chr11:49123970-49124020	ECC-1	luminal epithelium:	n/a
50	chr11:49071763-49071813	AG04450	lung:	fetal

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-1	chr11:49113956-49114319	NONHSAT021308
2	lnc-FOLH1-1	chr11:49155205-49156352	NONHSAT021310
3	lnc-TRIM64C-1	chr11:49092304-49092552	NONHSAT021307
4	lnc-AC084851.1-3	chr11:49132308-49132772	NONHSAT021309

Variant related genes	Relation type
UBTFL7	TF binding region
TRIM49B	TF binding region
ENSG00000254801	TF binding region
ENSG00000254567	TF binding region
TRIM64C	TF binding region
ENSG00000254412	TF binding region
ENSG00000254993	TF binding region
ENSG00000255452	TF binding region
ENSG00000255338	TF binding region
UBTFL7	CpG island
TRIM49B	CpG island
ENSG00000254801	CpG island
ENSG00000254567	CpG island
TRIM64C	CpG island
ENSG00000254412	CpG island
ENSG00000254993	CpG island
ENSG00000255452	CpG island
ENSG00000255338	CpG island

Extended variants
information (count: 308 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28566857	chr11:49046112-49046113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28726143	chr11:49046138-49046139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546316235	chr11:49046179-49046180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7128740	chr11:49046192-49046193	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185720553	chr11:49046194-49046195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190678809	chr11:49046219-49046220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369025536	chr11:49046221-49046222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561911658	chr11:49046225-49046226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs28722556	chr11:49046235-49046236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs528008777	chr11:49046290-49046291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564104915	chr11:49048097-49048098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79539328	chr11:49048186-49048187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs3781713	chr11:49048198-49048199	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs142139205	chr11:49048213-49048214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545064858	chr11:49048235-49048236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529966415	chr11:49049040-49049041	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs529423767	chr11:49049041-49049042	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs540506299	chr11:49049068-49049069	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs59376369	chr11:49049071-49049072	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs528480806	chr11:49049074-49049075	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs551437288	chr11:49049081-49049082	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs367804130	chr11:49071412-49071413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538917063	chr11:49071434-49071435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558838186	chr11:49071436-49071437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575390788	chr11:49071445-49071446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs367964185	chr11:49071446-49071447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544403035	chr11:49071480-49071481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141304279	chr11:49071489-49071490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574462550	chr11:49071546-49071547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs193094263	chr11:49080841-49080842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185850830	chr11:49080851-49080852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187934294	chr11:49080878-49080879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557506504	chr11:49080906-49080907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574908027	chr11:49081548-49081549	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs146143141	chr11:49081573-49081574	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs376720905	chr11:49082494-49082495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7940887	chr11:49082562-49082563	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7940776	chr11:49082563-49082564	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573444729	chr11:49082567-49082568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs180735233	chr11:49082659-49082660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs185135158	chr11:49082701-49082702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143836833	chr11:49092316-49092317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563031294	chr11:49092334-49092335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs189104430	chr11:49092410-49092411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs542483209	chr11:49092411-49092412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs561807987	chr11:49092426-49092427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs527424551	chr11:49092430-49092431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs547343325	chr11:49092499-49092500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs570370107	chr11:49092509-49092510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs191250504	chr11:49092626-49092627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49071400-49071600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:49098200-49098600	Enhancers	Liver	Liver
3	chr11:49110400-49112800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:49156800-49157000	Bivalent/Poised TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links