Variant report

Variant	nsv947315
Chromosome Location	chr1:119254254-119279475
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	chr1:119272369-119272450	K562	blood:	n/a	n/a
2	ATF1	chr1:119256873-119257034	K562	blood:	n/a	n/a
3	ATF1	chr1:119260690-119260796	K562	blood:	n/a	n/a
4	CEBPB	chr1:119271759-119271932	A549	lung:	n/a	chr1:119271843-119271854
5	CEBPB	chr1:119254330-119254591	H1-hESC	embryonic stem cell:	n/a	chr1:119254470-119254483 chr1:119254472-119254481 chr1:119254470-119254481 chr1:119254472-119254481 chr1:119254472-119254481 chr1:119254470-119254483 chr1:119254472-119254481
6	CEBPB	chr1:119276748-119276780	HepG2	liver:	n/a	chr1:119276754-119276765
7	CEBPB	chr1:119254315-119254655	IMR90	lung:	n/a	chr1:119254470-119254483 chr1:119254472-119254481 chr1:119254470-119254481 chr1:119254472-119254481 chr1:119254472-119254481 chr1:119254470-119254483 chr1:119254472-119254481
8	CEBPB	chr1:119254381-119254641	A549	lung:	n/a	chr1:119254470-119254483 chr1:119254472-119254481 chr1:119254470-119254481 chr1:119254472-119254481 chr1:119254472-119254481 chr1:119254470-119254483 chr1:119254472-119254481
9	CEBPB	chr1:119254327-119254646	HepG2	liver:	n/a	chr1:119254470-119254483 chr1:119254472-119254481 chr1:119254470-119254481 chr1:119254472-119254481 chr1:119254472-119254481 chr1:119254470-119254483 chr1:119254472-119254481
10	CEBPB	chr1:119271746-119271982	HepG2	liver:	n/a	chr1:119271843-119271854
11	CTCF	chr1:119259554-119259619	NHEK	skin:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
12	CTCF	chr1:119259500-119259650	NHLF	lung:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
13	CTCF	chr1:119259380-119259530	HCT-116	colon:	n/a	n/a
14	CTCF	chr1:119259580-119259730	HFF-Myc	foreskin:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
15	CTCF	chr1:119259503-119259686	HepG2	liver:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
16	CTCF	chr1:119259540-119259690	HPAF	blood vessel:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
17	CTCF	chr1:119259400-119259550	BE2_C	brain:	n/a	n/a
18	CTCF	chr1:119259498-119259698	H1-hESC	embryonic stem cell:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
19	CTCF	chr1:119259486-119259660	T-47D	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
20	CTCF	chr1:119259537-119259642	Hela-S3	cervix:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
21	CTCF	chr1:119259505-119259636	HepG2	liver:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
22	CTCF	chr1:119259500-119259650	HMEC	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
23	CTCF	chr1:119259503-119259652	Gliobla	brain:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
24	CTCF	chr1:119259620-119259770	HCT-116	colon:	n/a	n/a
25	CTCF	chr1:119259520-119259670	AG09319	gingival:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
26	CTCF	chr1:119259498-119259675	MCF-7	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
27	CTCF	chr1:119259540-119259690	SK-N-SH_RA	brain:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
28	CTCF	chr1:119259448-119259815	MCF-7	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
29	CTCF	chr1:119259560-119259710	Caco-2	colon:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
30	CTCF	chr1:119259560-119259710	HRE	kidney:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
31	CTCF	chr1:119259446-119259747	GM12878	blood:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
32	CTCF	chr1:119259540-119259690	HEEpiC	esophagus:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
33	CTCF	chr1:119259480-119259630	Hela-S3	cervix:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
34	CTCF	chr1:119259460-119259610	HCFaa	heart:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
35	CTCF	chr1:119267990-119268108	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr1:119259540-119259690	HMF	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
37	CTCF	chr1:119259560-119259710	HRPEpiC	eye:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
38	CTCF	chr1:119259520-119259670	HMEC	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
39	CTCF	chr1:119259480-119259630	Caco-2	colon:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
40	CTCF	chr1:119259380-119259530	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr1:119259554-119259611	Fibrobl	skin:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
42	CTCF	chr1:119259500-119259650	MCF-7	breast:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
43	CTCF	chr1:119259480-119259630	AG10803	skin:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
44	CTCF	chr1:119259520-119259670	HRE	kidney:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
45	CTCF	chr1:119259520-119259670	BJ	skin:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
46	CTCF	chr1:119259560-119259710	HEEpiC	esophagus:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
47	CTCF	chr1:119259540-119259690	HEK293	kidney:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
48	CTCF	chr1:119259540-119259690	HCPEpiC	choroid plexus:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
49	CTCF	chr1:119259500-119259650	WERI-Rb-1	eye:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609
50	CTCF	chr1:119259480-119259630	HRPEpiC	eye:	n/a	chr1:119259586-119259607 chr1:119259592-119259608 chr1:119259596-119259604 chr1:119259591-119259609

No.	Distal block	Cell Line	Cell type
1	chr1:119106535..119107478-chr1:119259424..119260114,3	MCF-7	breast:
2	chr1:119278498..119281362-chr1:119281660..119283995,2	MCF-7	breast:
3	chr1:118765900..118766656-chr1:119259174..119259999,3	MCF-7	breast:
4	chr1:118847351..118848215-chr1:119259152..119260012,5	MCF-7	breast:
5	chr1:119079795..119080727-chr1:119259154..119260061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229911	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564319826	chr1:119254264-119254265	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141429696	chr1:119254281-119254282	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3903912	chr1:119254291-119254292	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567763560	chr1:119254293-119254294	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2712297	chr1:119254328-119254329	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181497699	chr1:119254331-119254332	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2755137	chr1:119254333-119254334	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539131064	chr1:119254369-119254370	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs557956944	chr1:119254420-119254421	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573056005	chr1:119254437-119254438	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534131504	chr1:119254442-119254443	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185790118	chr1:119254454-119254455	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546013673	chr1:119254458-119254459	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573942986	chr1:119254468-119254469	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150823781	chr1:119254477-119254478	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77698537	chr1:119254503-119254504	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2755130	chr1:119254541-119254542	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552809155	chr1:119254578-119254579	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545966372	chr1:119254621-119254622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs551517210	chr1:119254827-119254828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113978833	chr1:119254834-119254835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs539552178	chr1:119254838-119254839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs551489606	chr1:119254883-119254884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190162178	chr1:119254908-119254909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs4144542	chr1:119259807-119259808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561328795	chr1:119259852-119259853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374688304	chr1:119259856-119259857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368796266	chr1:119259888-119259889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373365091	chr1:119259917-119259918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573132326	chr1:119259936-119259937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111901528	chr1:119259941-119259942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186034792	chr1:119259946-119259947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528833279	chr1:119259970-119259971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541950778	chr1:119260022-119260023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563956814	chr1:119260044-119260045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531015028	chr1:119260112-119260113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545949853	chr1:119260149-119260150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564456212	chr1:119260162-119260163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547252078	chr1:119260226-119260227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190406427	chr1:119260282-119260283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181277280	chr1:119260305-119260306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55982900	chr1:119260307-119260308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148074137	chr1:119260369-119260370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142019353	chr1:119260372-119260373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77450122	chr1:119260426-119260427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140172099	chr1:119260480-119260481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2712266	chr1:119260501-119260502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557948848	chr1:119260531-119260532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566793283	chr1:119260588-119260589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373270353	chr1:119260599-119260600	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119254200-119254600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:119259800-119260800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:119259800-119260800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:119259800-119260800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:119263000-119263400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:119279000-119279600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:119279400-119279800	Enhancers	HSMMtube	muscle
8	chr1:119279400-119282400	Enhancers	Fetal Muscle Leg	muscle

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