Variant report

Variant	nsv897487
Chromosome Location	chr11:49390619-49610094
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	chr11:49490218-49490477	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:49490187-49490529	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:49509838-49510050	HepG2	liver:	n/a	chr11:49509962-49509973
4	CEBPB	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
5	CEBPB	chr11:49490202-49490505	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr11:49490254-49490445	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr11:49502468-49502676	A549	lung:	n/a	n/a
8	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
9	CEBPB	chr11:49539385-49539635	HepG2	liver:	n/a	chr11:49539560-49539571
10	CEBPB	chr11:49539391-49539648	IMR90	lung:	n/a	chr11:49539560-49539571
11	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
12	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:49490231-49490541	K562	blood:	n/a	n/a
14	CTCF	chr11:49547610-49547639	GM10266	blood:	n/a	n/a
15	CTCF	chr11:49404186-49404276	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:49455937-49456048	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:49456018-49456026	GM12892	blood:	n/a	n/a
18	CTCF	chr11:49547800-49547950	GM12865	blood:	n/a	n/a
19	CTCF	chr11:49393764-49393987	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr11:49548060-49548210	GM12872	blood:	n/a	n/a
21	CTCF	chr11:49516820-49516970	Caco-2	colon:	n/a	n/a
22	CTCF	chr11:49547940-49548090	BJ	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
23	CTCF	chr11:49547940-49548090	SK-N-SH_RA	brain:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
24	CTCF	chr11:49393854-49393987	GM13977	blood:	n/a	n/a
25	CTCF	chr11:49462423-49462469	GM19239	blood:	n/a	n/a
26	CTCF	chr11:49547920-49548070	GM12864	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
27	CTCF	chr11:49547840-49547990	GM12872	blood:	n/a	n/a
28	CTCF	chr11:49547900-49548050	HepG2	liver:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
29	CTCF	chr11:49548100-49548250	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr11:49393800-49393950	GM12872	blood:	n/a	n/a
31	CTCF	chr11:49393789-49393996	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:49547900-49548050	GM12878	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
33	CTCF	chr11:49547856-49548142	GM12878	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
34	CTCF	chr11:49582978-49583021	GM10266	blood:	n/a	chr11:49582988-49583001 chr11:49582991-49583004
35	CTCF	chr11:49541832-49541891	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:49547960-49548110	K562	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
37	CTCF	chr11:49547850-49548126	K562	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
38	CTCF	chr11:49456060-49456115	GM12892	blood:	n/a	n/a
39	CTCF	chr11:49582933-49583085	MCF-7	breast:	n/a	chr11:49582988-49583001 chr11:49582991-49583004
40	CTCF	chr11:49393804-49393971	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr11:49393580-49393870	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:49547827-49548169	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
43	CTCF	chr11:49547880-49548170	GM12867	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
44	CTCF	chr11:49547900-49548050	HRPEpiC	eye:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
45	CTCF	chr11:49547920-49548070	HMF	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
46	CTCF	chr11:49547802-49548149	GM10248	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
47	CTCF	chr11:49393843-49393986	Lung_OC	lung:	n/a	n/a
48	CTCF	chr11:49477646-49477677	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr11:49547900-49548050	HEK293	kidney:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
50	CTCF	chr11:49547980-49548130	NHDF-neo	bronchial:	n/a	chr11:49547983-49548004 chr11:49547988-49548006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49582375-49582425	AG04450	lung:	fetal
2	chr11:49580074-49580124	SK-N-MC	brain:	n/a
3	chr11:49455164-49455214	PFSK-1	brain:	n/a
4	chr11:49582375-49582425	AG04450	lung:	fetal
5	chr11:49580074-49580124	SK-N-MC	brain:	n/a
6	chr11:49455164-49455214	PFSK-1	brain:	n/a
7	chr11:49581783-49581833	A549	lung:	n/a
8	chr11:49580074-49580124	BE2_C	brain:	n/a
9	chr11:49456067-49456117	AoSMC	blood vessel:	n/a
10	chr11:49455166-49455216	H1-hESC	embryonic stem cell:	embryo
11	chr11:49580019-49580069	GM19239	blood:	n/a
12	chr11:49455214-49455264	HCT-116	colon:	n/a
13	chr11:49580310-49580360	SK-N-SH	brain:	n/a
14	chr11:49455164-49455214	SK-N-MC	brain:	n/a
15	chr11:49455166-49455216	SK-N-MC	brain:	n/a
16	chr11:49579457-49579507	BJ	skin:	n/a
17	chr11:49580019-49580069	GM12878	blood:	n/a
18	chr11:49455166-49455216	HCT-116	colon:	n/a
19	chr11:49580017-49580067	RPTEC	kidney:	n/a
20	chr11:49580310-49580360	RPTEC	kidney:	n/a
21	chr11:49458195-49458245	NT2-D1	testis:	n/a
22	chr11:49453027-49453077	NH-A	brain:	n/a
23	chr11:49580017-49580067	SKMC	muscle:	n/a
24	chr11:49453027-49453077	PFSK-1	brain:	n/a
25	chr11:49456067-49456117	SK-N-SH	brain:	n/a
26	chr11:49455166-49455216	Hela-S3	cervix:	n/a
27	chr11:49455851-49455901	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:49580074-49580124	PANC-1	pancreas:	n/a
29	chr11:49581783-49581833	Hela-S3	cervix:	n/a
30	chr11:49580310-49580360	NH-A	brain:	n/a
31	chr11:49583127-49583177	HL-60	blood:	n/a
32	chr11:49583127-49583177	HMEC	breast:	n/a
33	chr11:49582872-49582922	AG10803	skin:	n/a
34	chr11:49582872-49582922	CMK	blood:	n/a
35	chr11:49581783-49581833	PrEC	prostate:	n/a
36	chr11:49581783-49581833	AG04449	skin:	fetal
37	chr11:49580074-49580124	MCF10A-Er-Src	breast:	n/a
38	chr11:49455166-49455216	IMR90	lung:	fetal
39	chr11:49455164-49455214	HCPEpiC	choroid plexus:	n/a
40	chr11:49456067-49456117	CMK	blood:	n/a
41	chr11:49455214-49455264	AG10803	skin:	n/a
42	chr11:49580017-49580067	MCF-7	breast:	n/a
43	chr11:49582375-49582425	HCM	heart:	n/a
44	chr11:49580074-49580124	GM12878	blood:	n/a
45	chr11:49455851-49455901	Caco-2	colon:	n/a
46	chr11:49458195-49458245	PANC-1	pancreas:	n/a
47	chr11:49580074-49580124	ovcar-3	ovarian:	n/a
48	chr11:49456067-49456117	PANC-1	pancreas:	n/a
49	chr11:49580074-49580124	Jurkat	blood:	n/a
50	chr11:49455936-49455986	BE2_C	brain:	n/a

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

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

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

Extended variants
information (count: 1569 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1569 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10501325	chr11:49390619-49390620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542134061	chr11:49390627-49390628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562007142	chr11:49390644-49390645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34093758	chr11:49390718-49390719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527458852	chr11:49390722-49390723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547646078	chr11:49390724-49390725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2866365	chr11:49390731-49390732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532610476	chr11:49390778-49390779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11040350	chr11:49390922-49390923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191584949	chr11:49390939-49390940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558679785	chr11:49390940-49390941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569192023	chr11:49390948-49390949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11040351	chr11:49390971-49390972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138743048	chr11:49390973-49390974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184110936	chr11:49390974-49390975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534112964	chr11:49391017-49391018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4086878	chr11:49391036-49391037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2866366	chr11:49391058-49391059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369327992	chr11:49391133-49391134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561283441	chr11:49391172-49391173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570980848	chr11:49391180-49391181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187337323	chr11:49391182-49391183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192273600	chr11:49391214-49391215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386753446	chr11:49391246-49391247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114086003	chr11:49391247-49391248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555683107	chr11:49391248-49391249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555068535	chr11:49391259-49391260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35043699	chr11:49391291-49391292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184335400	chr11:49391298-49391299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564258999	chr11:49391331-49391332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117701461	chr11:49391332-49391333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532387579	chr11:49391334-49391335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559680122	chr11:49391353-49391354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546269251	chr11:49391397-49391398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562888709	chr11:49391401-49391402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573224318	chr11:49391404-49391405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548213055	chr11:49391417-49391418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568133083	chr11:49391436-49391437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34472419	chr11:49391438-49391439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547689961	chr11:49391468-49391469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111744177	chr11:49391500-49391501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570987317	chr11:49391515-49391516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539690330	chr11:49391587-49391588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34432203	chr11:49391608-49391609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556200034	chr11:49391653-49391654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545323170	chr11:49391694-49391695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16914231	chr11:49391695-49391696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150525607	chr11:49391727-49391728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555373514	chr11:49391732-49391733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369980312	chr11:49391735-49391736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49390200-49395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:49390600-49399400	Weak transcription	Liver	Liver
3	chr11:49394000-49394200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:49394200-49395600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:49394200-49395600	Enhancers	Fetal Heart	heart
6	chr11:49395000-49395800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:49395600-49396000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:49395600-49396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:49395600-49396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:49395600-49396000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:49396000-49399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:49399400-49399600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:49399400-49399800	Enhancers	Liver	Liver
14	chr11:49399400-49400000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:49399600-49399800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:49399600-49400000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:49399800-49404800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:49404800-49405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:49405000-49408000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:49406600-49407400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:49408000-49408400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:49408400-49410400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:49410400-49413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:49410600-49410800	Enhancers	Brain Substantia Nigra	brain
25	chr11:49410600-49411200	Enhancers	Fetal Heart	heart
26	chr11:49410600-49411600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:49416800-49418600	Enhancers	Fetal Heart	heart
28	chr11:49418200-49418600	Enhancers	Right Atrium	heart
29	chr11:49427200-49427600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:49444600-49445600	Enhancers	Brain Hippocampus Middle	brain
31	chr11:49445200-49445800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:49445200-49446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:49445200-49446000	Enhancers	Brain Angular Gyrus	brain
34	chr11:49445200-49446400	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:49445400-49445600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:49445400-49446000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:49445600-49446000	Active TSS	Brain Anterior Caudate	brain
38	chr11:49445600-49446000	Active TSS	Brain Hippocampus Middle	brain
39	chr11:49445600-49446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:49446000-49446400	Enhancers	Brain Anterior Caudate	brain
41	chr11:49446000-49447000	Weak transcription	Brain Angular Gyrus	brain
42	chr11:49447000-49447200	Enhancers	Brain Angular Gyrus	brain
43	chr11:49447000-49447400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:49453000-49453400	Enhancers	Fetal Heart	heart
45	chr11:49458000-49458400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:49458400-49458800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:49458400-49459200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:49458800-49459200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:49459000-49460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:49459600-49460600	Enhancers	HUES48 Cell Line	embryonic stem cell

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