Variant report

Variant	nsv978219
Chromosome Location	chr16:30244411-30252269
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	EBF1	chr16:30245885-30246203	GM12878	blood:	n/a	n/a
2	FOSL2	chr16:30246722-30246942	HepG2	liver:	n/a	n/a
3	FOSL2	chr16:30244883-30245290	HepG2	liver:	n/a	n/a
4	FOSL2	chr16:30250403-30250817	HepG2	liver:	n/a	n/a
5	FOSL2	chr16:30250877-30251321	HepG2	liver:	n/a	n/a
6	FOSL2	chr16:30245866-30246138	HepG2	liver:	n/a	chr16:30245993-30246002
7	FOXA1	chr16:30246485-30246686	HepG2	liver:	n/a	n/a
8	JUND	chr16:30250466-30250690	HepG2	liver:	n/a	n/a
9	JUND	chr16:30250518-30250663	HepG2	liver:	n/a	n/a
10	PAX5	chr16:30244945-30245271	GM12878	blood:	n/a	chr16:30245080-30245097
11	PAX5	chr16:30244949-30245157	GM12878	blood:	n/a	chr16:30245080-30245097
12	PAX5	chr16:30250970-30251162	GM12878	blood:	n/a	n/a
13	PAX5	chr16:30244888-30245307	GM12878	blood:	n/a	chr16:30245080-30245097
14	PAX5	chr16:30244892-30245160	GM12878	blood:	n/a	chr16:30245080-30245097
15	POLR2A	chr16:30250961-30251298	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:30244884-30245297	GM12892	blood:	n/a	n/a
17	POLR2A	chr16:30245876-30246216	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:30251797-30252434	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:30250265-30251364	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:30252158-30252346	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:30250117-30250786	GM12892	blood:	n/a	n/a
22	POLR2A	chr16:30245843-30246242	GM12892	blood:	n/a	n/a
23	POLR2A	chr16:30245845-30246280	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:30247283-30247723	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:30250973-30251282	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:30244890-30245297	GM12891	blood:	n/a	n/a
27	POLR2A	chr16:30250274-30250793	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:30251772-30252435	GM12892	blood:	n/a	n/a
29	POLR2A	chr16:30244369-30244628	GM12891	blood:	n/a	n/a
30	POLR2A	chr16:30250879-30251236	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:30250969-30251244	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:30251822-30252111	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:30250927-30251252	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:30247460-30247674	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:30250467-30250742	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr16:30245884-30246271	GM12891	blood:	n/a	n/a
37	POLR2A	chr16:30250946-30251306	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:30251824-30252109	GM12891	blood:	n/a	n/a
39	POLR2A	chr16:30250454-30250738	GM12891	blood:	n/a	n/a
40	POLR2A	chr16:30245829-30246272	GM12892	blood:	n/a	n/a
41	POLR2A	chr16:30244887-30245272	GM12892	blood:	n/a	n/a
42	POLR2A	chr16:30250877-30251347	GM12891	blood:	n/a	n/a
43	POLR2A	chr16:30250419-30251349	GM12892	blood:	n/a	n/a
44	POLR2A	chr16:30244969-30245205	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr16:30250886-30251435	GM12891	blood:	n/a	n/a
46	POLR2A	chr16:30244967-30245105	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:30250878-30251359	GM12892	blood:	n/a	n/a
48	POLR2A	chr16:30250486-30250757	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:30252188-30252341	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:30250874-30251674	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000198064	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 124 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113285404	chr16:30247417-30247418	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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