Variant report

Variant	nsv978184
Chromosome Location	chr16:12024051-12027747
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	FOSL2	chr16:12024280-12024663	HepG2	liver:	n/a	n/a
2	JUND	chr16:12024272-12024458	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:12024255-12024692	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:12024268-12024481	Hela-S3	cervix:	n/a	n/a
5	POU2F2	chr16:12024262-12024549	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr16:12025300-12025389	HepG2	liver:	n/a	n/a
7	USF1	chr16:12024306-12024453	HepG2	liver:	n/a	n/a
8	USF1	chr16:12024335-12024451	HepG2	liver:	n/a	n/a
9	ZBTB33	chr16:12024259-12024447	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-166B2.1.1-2	chr16:12027682-12027781	NONHSAT140610
2	lnc-RP11-166B2.1.1-2	chr16:12027480-12027518	NONHSAT140610

Variant related genes	Relation type
ENSG00000234719	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199906866	chr16:12024345-12024346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201218967	chr16:12024360-12024361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575740545	chr16:12024389-12024390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201929589	chr16:12024398-12024399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561387242	chr16:12024399-12024400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575050747	chr16:12024455-12024456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs560789938	chr16:12025373-12025374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372613650	chr16:12027484-12027485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs535735201	chr16:12027495-12027496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs556044061	chr16:12027496-12027497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs571909642	chr16:12027516-12027517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs529129562	chr16:12027693-12027694	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs549270863	chr16:12027728-12027729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs559616310	chr16:12027735-12027736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
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	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
Breast cancer	21858162	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	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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