Variant report

Variant	esv3350426
Chromosome Location	chr16:30249951-30265449
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	BATF	chr16:30253881-30255413	GM12878	blood:	n/a	chr16:30254617-30254626
2	BATF	chr16:30259201-30259411	GM12878	blood:	n/a	n/a
3	BATF	chr16:30254596-30255384	GM12878	blood:	n/a	chr16:30254617-30254626
4	BATF	chr16:30258549-30259033	GM12878	blood:	n/a	n/a
5	BATF	chr16:30254332-30254568	GM12878	blood:	n/a	n/a
6	BCL11A	chr16:30261939-30262234	GM12878	blood:	n/a	n/a
7	BCL11A	chr16:30257644-30257939	GM12878	blood:	n/a	n/a
8	BCL11A	chr16:30254162-30254547	GM12878	blood:	n/a	n/a
9	BCL11A	chr16:30255424-30255604	GM12878	blood:	n/a	n/a
10	BCL11A	chr16:30254598-30255354	GM12878	blood:	n/a	n/a
11	BCL11A	chr16:30261048-30261337	GM12878	blood:	n/a	n/a
12	BCL11A	chr16:30254248-30255411	GM12878	blood:	n/a	n/a
13	BCL11A	chr16:30265070-30265337	GM12878	blood:	n/a	n/a
14	BCL11A	chr16:30258607-30259109	GM12878	blood:	n/a	n/a
15	BCL11A	chr16:30265031-30265307	GM12878	blood:	n/a	n/a
16	BCL11A	chr16:30257707-30257934	GM12878	blood:	n/a	n/a
17	BHLHE40	chr16:30265217-30265903	HepG2	liver:	n/a	n/a
18	BHLHE40	chr16:30262586-30262825	HepG2	liver:	n/a	n/a
19	BHLHE40	chr16:30261888-30262116	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:30264978-30265211	HepG2	liver:	n/a	n/a
21	CTCF	chr16:30257580-30257730	GM12873	blood:	n/a	n/a
22	CTCF	chr16:30257557-30257904	K562	blood:	n/a	n/a
23	EBF1	chr16:30256586-30256904	GM12878	blood:	n/a	n/a
24	EBF1	chr16:30256568-30256907	GM12878	blood:	n/a	n/a
25	EBF1	chr16:30257722-30258097	GM12878	blood:	n/a	n/a
26	EBF1	chr16:30258733-30258991	GM12878	blood:	n/a	n/a
27	EBF1	chr16:30254464-30255377	GM12878	blood:	n/a	n/a
28	EBF1	chr16:30255452-30255692	GM12878	blood:	n/a	n/a
29	EBF1	chr16:30264638-30264855	GM12878	blood:	n/a	n/a
30	EBF1	chr16:30257699-30257861	GM12878	blood:	n/a	n/a
31	EBF1	chr16:30254291-30255446	GM12878	blood:	n/a	n/a
32	EP300	chr16:30261999-30262436	GM12878	blood:	n/a	chr16:30262029-30262039
33	EP300	chr16:30253167-30253372	GM12878	blood:	n/a	n/a
34	EP300	chr16:30256645-30256923	GM12878	blood:	n/a	n/a
35	EP300	chr16:30261110-30261377	GM12878	blood:	n/a	n/a
36	EP300	chr16:30263923-30264263	GM12878	blood:	n/a	n/a
37	EP300	chr16:30258520-30259103	GM12878	blood:	n/a	n/a
38	EP300	chr16:30257594-30257959	GM12878	blood:	n/a	n/a
39	EP300	chr16:30261136-30261307	GM12878	blood:	n/a	n/a
40	EP300	chr16:30254169-30255374	GM12878	blood:	n/a	n/a
41	EP300	chr16:30253992-30255458	GM12878	blood:	n/a	n/a
42	EP300	chr16:30264962-30265506	GM12878	blood:	n/a	n/a
43	FOSL2	chr16:30253154-30255385	HepG2	liver:	n/a	chr16:30254603-30254613 chr16:30254109-30254120 chr16:30254448-30254460 chr16:30254451-30254462 chr16:30254113-30254121 chr16:30254603-30254613
44	FOSL2	chr16:30250403-30250817	HepG2	liver:	n/a	n/a
45	FOSL2	chr16:30261071-30261373	HepG2	liver:	n/a	n/a
46	FOSL2	chr16:30261833-30263239	HepG2	liver:	n/a	n/a
47	FOSL2	chr16:30263798-30264500	HepG2	liver:	n/a	n/a
48	FOSL2	chr16:30259981-30260401	HepG2	liver:	n/a	n/a
49	FOSL2	chr16:30256540-30256852	HepG2	liver:	n/a	n/a
50	FOSL2	chr16:30256563-30256967	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000198064	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62055394	chr16:30257696-30257697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565000062	chr16:30257730-30257731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11860311	chr16:30260495-30260496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	18632612	CNVD
autism	21731881	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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