Variant report

Variant	nsv8413
Chromosome Location	chr1:152643327-152646982
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	chr1:152645918-152646083	A549	lung:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
2	CEBPB	chr1:152645922-152646032	K562	blood:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152645928-152645941
3	CEBPB	chr1:152645885-152646048	HepG2	liver:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
4	FOS	chr1:152645503-152645789	MCF10A-Er-Src	breast:	n/a	chr1:152645656-152645664 chr1:152645655-152645665
5	FOS	chr1:152645515-152645721	MCF10A-Er-Src	breast:	n/a	chr1:152645656-152645664 chr1:152645655-152645665
6	FOS	chr1:152644644-152644748	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:152644383-152644437	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:152645648-152645658	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:152645659-152645871	GM12878	blood:	n/a	n/a
10	STAT3	chr1:152645631-152645633	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr1:152645608-152645679	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152646533-152646583	HMEC	breast:	n/a
2	chr1:152646533-152646583	HMEC	breast:	n/a
3	chr1:152646533-152646583	HRPEpiC	eye:	n/a
4	chr1:152646533-152646583	HEEpiC	esophagus:	n/a
5	chr1:152646533-152646583	HL-60	blood:	n/a
6	chr1:152646533-152646583	GM12891	blood:	n/a
7	chr1:152646533-152646583	LNCaP	prostate:	n/a
8	chr1:152646533-152646583	NHDF-neo	bronchial:	n/a
9	chr1:152646533-152646583	HRCEpiC	kidney:	n/a
10	chr1:152646533-152646583	BJ	skin:	n/a
11	chr1:152646533-152646583	ovcar-3	ovarian:	n/a
12	chr1:152646533-152646583	GM12892	blood:	n/a
13	chr1:152646533-152646583	HNPCEpiC	eye:	n/a
14	chr1:152646533-152646583	SKMC	muscle:	n/a
15	chr1:152646533-152646583	NHBE	bronchial:	n/a
16	chr1:152646533-152646583	MCF-7	breast:	n/a
17	chr1:152646533-152646583	HPAEpiC	pulmonary alveolar:	n/a
18	chr1:152646533-152646583	Hela-S3	cervix:	n/a
19	chr1:152646533-152646583	HAEpiC	amniotic membrane:	n/a
20	chr1:152646533-152646583	RPTEC	kidney:	n/a
21	chr1:152646533-152646583	T-47D	breast:	n/a
22	chr1:152646533-152646583	HUVEC	blood vessel:	n/a
23	chr1:152646533-152646583	Caco-2	colon:	n/a
24	chr1:152646533-152646583	AG09319	gingival:	n/a
25	chr1:152646533-152646583	PANC-1	pancreas:	n/a
26	chr1:152646533-152646583	HRE	kidney:	n/a
27	chr1:152646533-152646583	NH-A	brain:	n/a
28	chr1:152646533-152646583	PrEC	prostate:	n/a
29	chr1:152646533-152646583	AG04449	skin:	fetal
30	chr1:152646533-152646583	SK-N-SH_RA	brain:	n/a
31	chr1:152646533-152646583	PFSK-1	brain:	n/a
32	chr1:152646533-152646583	U87	brain:	n/a
33	chr1:152646533-152646583	HCPEpiC	choroid plexus:	n/a
34	chr1:152646533-152646583	NB4	blood:	n/a
35	chr1:152646533-152646583	IMR90	lung:	fetal
36	chr1:152646533-152646583	Jurkat	blood:	n/a
37	chr1:152646533-152646583	HCM	heart:	n/a
38	chr1:152646533-152646583	AoSMC	blood vessel:	n/a
39	chr1:152646533-152646583	ECC-1	luminal epithelium:	n/a
40	chr1:152646533-152646583	HEK293	kidney:	embryo
41	chr1:152646533-152646583	AG10803	skin:	n/a
42	chr1:152646533-152646583	HepG2	liver:	n/a
43	chr1:152646533-152646583	AG04450	lung:	fetal
44	chr1:152646533-152646583	BE2_C	brain:	n/a
45	chr1:152646533-152646583	HCF	heart:	n/a
46	chr1:152646533-152646583	AG09309	skin:	n/a
47	chr1:152646533-152646583	SAEC	small airway:	n/a
48	chr1:152646533-152646583	K562	blood:	n/a
49	chr1:152646533-152646583	HCT-116	colon:	n/a
50	chr1:152646533-152646583	CMK	blood:	n/a

Variant related genes	Relation type
LCE2C	TF binding region
LCE2B	TF binding region
LCE2C	CpG island
LCE2B	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188133127	chr1:152644392-152644393	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs140305148	chr1:152644396-152644397	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs534037470	chr1:152644654-152644655	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs137964868	chr1:152644692-152644693	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs548994394	chr1:152644742-152644743	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs28432324	chr1:152645515-152645516	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs1886732	chr1:152645528-152645529	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181883899	chr1:152645551-152645552	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs573099198	chr1:152645555-152645556	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs186455462	chr1:152645557-152645558	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs538054178	chr1:152645567-152645568	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs533031288	chr1:152645636-152645637	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs558286156	chr1:152645677-152645678	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs571862420	chr1:152645683-152645684	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs534476855	chr1:152645719-152645720	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs554236170	chr1:152645799-152645800	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs147517438	chr1:152645800-152645801	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs562230703	chr1:152645810-152645811	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs576433984	chr1:152645811-152645812	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs544883696	chr1:152645816-152645817	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs565058718	chr1:152645817-152645818	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs75213230	chr1:152645845-152645846	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs527613977	chr1:152645917-152645918	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs574304671	chr1:152645924-152645925	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs560587217	chr1:152646006-152646007	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs529632483	chr1:152646011-152646012	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs549512068	chr1:152646032-152646033	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs16834311	chr1:152646043-152646044	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532197766	chr1:152646057-152646058	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs556555017	chr1:152646203-152646204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576478339	chr1:152646239-152646240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1925661	chr1:152646279-152646280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558502073	chr1:152646319-152646320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572192693	chr1:152646353-152646354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568766467	chr1:152646376-152646377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576841262	chr1:152646384-152646385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74385885	chr1:152646413-152646414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536096626	chr1:152646424-152646425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150646077	chr1:152646427-152646428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531426024	chr1:152646450-152646451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532970265	chr1:152646460-152646461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574347041	chr1:152646463-152646464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181481741	chr1:152646478-152646479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372011962	chr1:152646481-152646482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545081392	chr1:152646505-152646506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201209890	chr1:152646533-152646534	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
47	rs184954761	chr1:152646534-152646535	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs552233622	chr1:152646537-152646538	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs139725009	chr1:152646539-152646540	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
50	rs28375317	chr1:152646559-152646560	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152645800-152646000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:152646200-152649000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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