Variant report

Variant	nsv897486
Chromosome Location	chr11:49373782-49688837
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	chr11:49627187-49627468	HepG2	liver:	n/a	chr11:49627349-49627360 chr11:49627349-49627362
2	CEBPB	chr11:49509838-49510050	HepG2	liver:	n/a	chr11:49509962-49509973
3	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
4	CEBPB	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
5	CEBPB	chr11:49615707-49615848	HepG2	liver:	n/a	chr11:49615780-49615791 chr11:49615782-49615791 chr11:49615781-49615792 chr11:49615780-49615793
6	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
7	CEBPB	chr11:49539385-49539635	HepG2	liver:	n/a	chr11:49539560-49539571
8	CEBPB	chr11:49633957-49634229	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:49490254-49490445	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr11:49490187-49490529	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:49502468-49502676	A549	lung:	n/a	n/a
12	CEBPB	chr11:49490231-49490541	K562	blood:	n/a	n/a
13	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
14	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
15	CEBPB	chr11:49490202-49490505	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:49627245-49627460	A549	lung:	n/a	chr11:49627349-49627360 chr11:49627349-49627362
17	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
18	CEBPB	chr11:49539391-49539648	IMR90	lung:	n/a	chr11:49539560-49539571
19	CEBPB	chr11:49490218-49490477	HepG2	liver:	n/a	n/a
20	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
21	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
22	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
23	CTCF	chr11:49541828-49541902	LNCaP	prostate:	n/a	n/a
24	CTCF	chr11:49437125-49437149	GM20000	blood:	n/a	n/a
25	CTCF	chr11:49393822-49393962	HepG2	liver:	n/a	n/a
26	CTCF	chr11:49548294-49548325	GM20000	blood:	n/a	n/a
27	CTCF	chr11:49547940-49548090	HL-60	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
28	CTCF	chr11:49548020-49548170	HCT-116	colon:	n/a	n/a
29	CTCF	chr11:49547848-49548150	GM13977	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
30	CTCF	chr11:49455919-49456023	GM19240	blood:	n/a	n/a
31	CTCF	chr11:49393874-49393919	GM20000	blood:	n/a	n/a
32	CTCF	chr11:49548060-49548210	HCT-116	colon:	n/a	n/a
33	CTCF	chr11:49583014-49583023	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:49617523-49617596	GM20000	blood:	n/a	n/a
35	CTCF	chr11:49547768-49548202	A549	lung:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
36	CTCF	chr11:49516820-49516970	Caco-2	colon:	n/a	n/a
37	CTCF	chr11:49477646-49477677	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr11:49547840-49547990	GM12869	blood:	n/a	n/a
39	CTCF	chr11:49548060-49548210	GM12878	blood:	n/a	n/a
40	CTCF	chr11:49547900-49548050	HRPEpiC	eye:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
41	CTCF	chr11:49548000-49548150	HAc	cerebellar:	n/a	n/a
42	CTCF	chr11:49582218-49582313	MCF-7	breast:	n/a	chr11:49582259-49582277 chr11:49582260-49582276 chr11:49582261-49582282
43	CTCF	chr11:49547827-49548082	K562	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
44	CTCF	chr11:49684009-49684066	LNCaP	prostate:	n/a	n/a
45	CTCF	chr11:49547866-49548086	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
46	CTCF	chr11:49548100-49548250	BE2_C	brain:	n/a	n/a
47	CTCF	chr11:49547845-49548169	ProgFib	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
48	CTCF	chr11:49547900-49548050	BJ	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
49	CTCF	chr11:49393780-49393930	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:49547920-49548070	GM12864	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49579997-49580047	ovcar-3	ovarian:	n/a
2	chr11:49579997-49580047	ovcar-3	ovarian:	n/a
3	chr11:49580074-49580124	SK-N-SH	brain:	n/a
4	chr11:49580017-49580067	PANC-1	pancreas:	n/a
5	chr11:49580017-49580067	GM12892	blood:	n/a
6	chr11:49458195-49458245	MCF-7	breast:	n/a
7	chr11:49582872-49582922	HCPEpiC	choroid plexus:	n/a
8	chr11:49583127-49583177	SK-N-SH_RA	brain:	n/a
9	chr11:49455936-49455986	PANC-1	pancreas:	n/a
10	chr11:49455214-49455264	GM12878	blood:	n/a
11	chr11:49580074-49580124	GM19239	blood:	n/a
12	chr11:49582375-49582425	PrEC	prostate:	n/a
13	chr11:49455851-49455901	Jurkat	blood:	n/a
14	chr11:49581783-49581833	NHBE	bronchial:	n/a
15	chr11:49581783-49581833	GM12892	blood:	n/a
16	chr11:49455936-49455986	AG09319	gingival:	n/a
17	chr11:49579997-49580047	HRE	kidney:	n/a
18	chr11:49453027-49453077	HCM	heart:	n/a
19	chr11:49580017-49580067	AG09319	gingival:	n/a
20	chr11:49458195-49458245	NHDF-neo	bronchial:	n/a
21	chr11:49456067-49456117	HEK293	kidney:	embryo
22	chr11:49579457-49579507	Hela-S3	cervix:	n/a
23	chr11:49453027-49453077	SK-N-SH_RA	brain:	n/a
24	chr11:49453027-49453077	NH-A	brain:	n/a
25	chr11:49579997-49580047	NB4	blood:	n/a
26	chr11:49580017-49580067	NH-A	brain:	n/a
27	chr11:49456196-49456246	HMEC	breast:	n/a
28	chr11:49456067-49456117	BE2_C	brain:	n/a
29	chr11:49455166-49455216	HUVEC	blood vessel:	n/a
30	chr11:49580074-49580124	PFSK-1	brain:	n/a
31	chr11:49583127-49583177	Hela-S3	cervix:	n/a
32	chr11:49455936-49455986	HCPEpiC	choroid plexus:	n/a
33	chr11:49580310-49580360	GM12891	blood:	n/a
34	chr11:49456067-49456117	HL-60	blood:	n/a
35	chr11:49580310-49580360	BJ	skin:	n/a
36	chr11:49579457-49579507	H1-hESC	embryonic stem cell:	embryo
37	chr11:49582375-49582425	HRE	kidney:	n/a
38	chr11:49579457-49579507	LNCaP	prostate:	n/a
39	chr11:49455851-49455901	HepG2	liver:	n/a
40	chr11:49455164-49455214	HRE	kidney:	n/a
41	chr11:49579997-49580047	RPTEC	kidney:	n/a
42	chr11:49581783-49581833	PrEC	prostate:	n/a
43	chr11:49458195-49458245	AoSMC	blood vessel:	n/a
44	chr11:49579457-49579507	HRCEpiC	kidney:	n/a
45	chr11:49580019-49580069	ovcar-3	ovarian:	n/a
46	chr11:49458195-49458245	HRE	kidney:	n/a
47	chr11:49580017-49580067	NB4	blood:	n/a
48	chr11:49580019-49580069	SAEC	small airway:	n/a
49	chr11:49580019-49580069	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:49582872-49582922	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
2	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:
3	chr11:49547545..49548055-chr11:50016701..50017446,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-9	chr11:49454982-49456076	NONHSAT021316
2	lnc-AC084851.1-8	chr11:49427742-49428266	NONHSAT021315
3	lnc-AC084851.1-9	chr11:49453962-49453989	NONHSAT021316

Variant related genes	Relation type
TYRL	TF binding region
ENSG00000226268	TF binding region
ENSG00000255532	TF binding region
CBX3P8	TF binding region
ENSG00000205035	TF binding region
TYRL	CpG island
ENSG00000226268	CpG island
ENSG00000255532	CpG island
CBX3P8	CpG island
ENSG00000205035	CpG island

Extended variants
information (count: 1861 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1861 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563852580	chr11:49382668-49382669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531977780	chr11:49382761-49382762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs9736487	chr11:49383392-49383393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs545512792	chr11:49383393-49383394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562118844	chr11:49383395-49383396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187688796	chr11:49383401-49383402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548147414	chr11:49383412-49383413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140890537	chr11:49383442-49383443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569878477	chr11:49384408-49384409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78413015	chr11:49384417-49384418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56397582	chr11:49384422-49384423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576984573	chr11:49384424-49384425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571428095	chr11:49384451-49384452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539687513	chr11:49384491-49384492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138525404	chr11:49384563-49384564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576119364	chr11:49384670-49384671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541573030	chr11:49384677-49384678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529076735	chr11:49384684-49384685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112518492	chr11:49384736-49384737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386373814	chr11:49384746-49384747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs33995936	chr11:49384760-49384761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3081378	chr11:49384761-49384762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199707730	chr11:49384762-49384763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113784464	chr11:49384765-49384766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189189677	chr11:49384800-49384801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564411827	chr11:49384920-49384921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538753251	chr11:49384921-49384922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533156596	chr11:49384943-49384944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181947923	chr11:49384944-49384945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184994396	chr11:49384972-49384973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76213023	chr11:49384984-49384985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367901743	chr11:49384996-49384997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374246980	chr11:49384998-49384999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375525866	chr11:49385000-49385001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191163012	chr11:49385022-49385023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548418698	chr11:49385092-49385093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138919387	chr11:49385097-49385098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182939668	chr11:49385102-49385103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79359500	chr11:49385103-49385104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547677069	chr11:49385134-49385135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374366810	chr11:49385140-49385141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539629601	chr11:49385171-49385172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149436641	chr11:49385222-49385223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575222628	chr11:49385228-49385229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576580691	chr11:49385269-49385270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144767995	chr11:49385272-49385273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542241649	chr11:49385273-49385274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367968693	chr11:49385296-49385297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557619599	chr11:49385329-49385330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370670614	chr11:49385368-49385369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49384400-49384800	Enhancers	Ovary	ovary
2	chr11:49384800-49386200	Weak transcription	Ovary	ovary
3	chr11:49386200-49386600	Enhancers	Ovary	ovary
4	chr11:49386200-49387800	Enhancers	Liver	Liver
5	chr11:49386800-49387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:49387800-49389800	Weak transcription	Liver	Liver
7	chr11:49389800-49390600	Enhancers	Liver	Liver
8	chr11:49390200-49395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:49390600-49399400	Weak transcription	Liver	Liver
10	chr11:49394000-49394200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:49394200-49395600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:49394200-49395600	Enhancers	Fetal Heart	heart
13	chr11:49395000-49395800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:49395600-49396000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:49395600-49396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:49395600-49396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:49395600-49396000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:49396000-49399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:49399400-49399600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:49399400-49399800	Enhancers	Liver	Liver
21	chr11:49399400-49400000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:49399600-49399800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:49399600-49400000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:49399800-49404800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:49404800-49405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:49405000-49408000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:49406600-49407400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:49408000-49408400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:49408400-49410400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:49410400-49413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:49410600-49410800	Enhancers	Brain Substantia Nigra	brain
32	chr11:49410600-49411200	Enhancers	Fetal Heart	heart
33	chr11:49410600-49411600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:49416800-49418600	Enhancers	Fetal Heart	heart
35	chr11:49418200-49418600	Enhancers	Right Atrium	heart
36	chr11:49427200-49427600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:49444600-49445600	Enhancers	Brain Hippocampus Middle	brain
38	chr11:49445200-49445800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:49445200-49446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:49445200-49446000	Enhancers	Brain Angular Gyrus	brain
41	chr11:49445200-49446400	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:49445400-49445600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:49445400-49446000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:49445600-49446000	Active TSS	Brain Anterior Caudate	brain
45	chr11:49445600-49446000	Active TSS	Brain Hippocampus Middle	brain
46	chr11:49445600-49446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:49446000-49446400	Enhancers	Brain Anterior Caudate	brain
48	chr11:49446000-49447000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:49447000-49447200	Enhancers	Brain Angular Gyrus	brain
50	chr11:49447000-49447400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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