Variant report

Variant	esv3370002
Chromosome Location	chr16:30236951-30242649
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	EP300	chr16:30236740-30237025	GM12878	blood:	n/a	n/a
2	FOSL2	chr16:30239660-30240056	HepG2	liver:	n/a	n/a
3	FOSL2	chr16:30238112-30238351	HepG2	liver:	n/a	n/a
4	FOSL2	chr16:30236550-30237020	HepG2	liver:	n/a	n/a
5	GATA2	chr16:30236540-30237043	K562	blood:	n/a	n/a
6	JUND	chr16:30239475-30239828	HepG2	liver:	n/a	n/a
7	JUND	chr16:30236780-30237021	HepG2	liver:	n/a	n/a
8	PAX5	chr16:30238805-30238981	GM12878	blood:	n/a	n/a
9	PAX5	chr16:30238780-30238967	GM12878	blood:	n/a	n/a
10	PAX5	chr16:30238801-30238989	GM12878	blood:	n/a	n/a
11	PAX5	chr16:30236767-30237015	GM12878	blood:	n/a	n/a
12	PAX5	chr16:30238749-30239112	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:30236546-30237028	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:30239060-30239224	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:30236517-30237062	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:30236764-30236983	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:30239391-30239721	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:30236543-30237015	GM12891	blood:	n/a	n/a
19	POLR2A	chr16:30236722-30236986	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:30236520-30237054	GM12891	blood:	n/a	n/a
21	POLR2A	chr16:30236714-30237011	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:30236782-30236988	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:30239354-30240085	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:30238092-30238368	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:30236575-30236995	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr16:30239386-30239754	Hela-S3	cervix:	n/a	n/a
27	RXRA	chr16:30239482-30239686	HepG2	liver:	n/a	n/a
28	SP1	chr16:30239369-30239640	HepG2	liver:	n/a	chr16:30239420-30239430
29	USF1	chr16:30239545-30239814	HepG2	liver:	n/a	n/a
30	USF1	chr16:30239728-30239844	HepG2	liver:	n/a	n/a
31	ZBTB33	chr16:30236786-30237017	K562	blood:	n/a	n/a
32	ZBTB33	chr16:30239466-30239685	K562	blood:	n/a	chr16:30239554-30239563 chr16:30239571-30239580

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SULT1A3.1-4	chr16:30236032-30237016	NONHSAT141729

Variant related genes	Relation type
ENSG00000198064	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202025137	chr16:30236959-30236960	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs113386172	chr16:30238816-30238817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113833334	chr16:30238877-30238878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79721614	chr16:30239528-30239529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs574465434	chr16:30239704-30239705	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369521919	chr16:30240490-30240491	Weak transcription	n/a	n/a	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30239000-30241400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr16:30239000-30241400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:30239000-30241400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:30240000-30240200	Enhancers	Colonic Mucosa	Colon

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