Variant report

Variant	nsv978310
Chromosome Location	chr16:34340775-34358491
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	chr16:34357489-34357722	HepG2	liver:	n/a	chr16:34357610-34357623 chr16:34357611-34357622
2	CTCF	chr16:34347480-34347630	GM12866	blood:	n/a	n/a
3	FOS	chr16:34343800-34343919	MCF10A-Er-Src	breast:	n/a	chr16:34343896-34343905
4	JUN	chr16:34357635-34357739	HepG2	liver:	n/a	chr16:34357640-34357653 chr16:34357641-34357650
5	JUND	chr16:34344276-34344480	HepG2	liver:	n/a	n/a
6	JUND	chr16:34357503-34357770	HepG2	liver:	n/a	chr16:34357641-34357650
7	MAFF	chr16:34355318-34355589	HepG2	liver:	n/a	chr16:34355421-34355439
8	MAFK	chr16:34355282-34355602	HepG2	liver:	n/a	chr16:34355423-34355438 chr16:34355480-34355495
9	MAFK	chr16:34355332-34355602	IMR90	lung:	n/a	chr16:34355423-34355438 chr16:34355480-34355495
10	MAFK	chr16:34355355-34355531	HepG2	liver:	n/a	chr16:34355423-34355438 chr16:34355480-34355495
11	MAZ	chr16:34355219-34355262	HepG2	liver:	n/a	n/a
12	MXI1	chr16:34343535-34343615	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:34354048-34354085	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr16:34357379-34357480	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:34342398-34342535	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:34341484-34341521	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:34345523-34345648	MCF10A-Er-Src	breast:	n/a	n/a
18	RCOR1	chr16:34341693-34341703	HepG2	liver:	n/a	n/a
19	RFX5	chr16:34354332-34354388	K562	blood:	n/a	n/a
20	SMC3	chr16:34341811-34341824	HepG2	liver:	n/a	n/a
21	STAT3	chr16:34344762-34344962	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr16:34345656-34345804	MCF10A-Er-Src	breast:	n/a	n/a
23	USF2	chr16:34341870-34341927	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
VN1R68P	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35551339	chr16:34353009-34353010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201174557	chr16:34353015-34353016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567271385	chr16:34353016-34353017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs542583217	chr16:34353025-34353026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116354745	chr16:34353026-34353027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs180681273	chr16:34353052-34353053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551842065	chr16:34353070-34353071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs570011733	chr16:34353082-34353083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs61747984	chr16:34353091-34353092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555447837	chr16:34353094-34353095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186594784	chr16:34353103-34353104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567679667	chr16:34353117-34353118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs9930859	chr16:34353179-34353180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572494965	chr16:34354338-34354339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183540578	chr16:34355287-34355288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs385974	chr16:34355350-34355351	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113172203	chr16:34355363-34355364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs186437730	chr16:34355389-34355390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540763193	chr16:34355409-34355410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565254504	chr16:34355441-34355442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189871045	chr16:34355467-34355468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs139245886	chr16:34355577-34355578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs409110	chr16:34357402-34357403	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72810736	chr16:34357416-34357417	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565932711	chr16:34357420-34357421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs375327534	chr16:34357477-34357478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs116448873	chr16:34357494-34357495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs575318278	chr16:34357495-34357496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576192024	chr16:34357552-34357553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs139384000	chr16:34357559-34357560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs191337025	chr16:34357575-34357576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs115263205	chr16:34357593-34357594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559326963	chr16:34357594-34357595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs577348420	chr16:34357636-34357637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541313358	chr16:34357696-34357697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560119310	chr16:34357711-34357712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189373044	chr16:34357764-34357765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34353000-34353200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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