Variant report

Variant	nsv946102
Chromosome Location	chr1:102345540-102348085
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	chr1:102346026-102346355	GM12878	blood:	n/a	n/a
2	BATF	chr1:102346057-102346369	GM12878	blood:	n/a	n/a
3	BCL11A	chr1:102346126-102346353	GM12878	blood:	n/a	n/a
4	CTCF	chr1:102347078-102347165	LNCaP	prostate:	n/a	n/a
5	CTCF	chr1:102345816-102345888	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr1:102346980-102346997	GM20000	blood:	n/a	n/a
7	EBF1	chr1:102346135-102346323	GM12878	blood:	n/a	n/a
8	IRF4	chr1:102346009-102346359	GM12878	blood:	n/a	n/a
9	TCF12	chr1:102346162-102346323	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S1PR1-12	chr1:102348072-102348450	NONHSAT004868

Variant related genes	Relation type
ENSG00000271277	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181712261	chr1:102345816-102345817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1856036	chr1:102345837-102345838	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148960015	chr1:102345849-102345850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574246914	chr1:102345858-102345859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534324611	chr1:102346020-102346021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1856037	chr1:102346105-102346106	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571206467	chr1:102346162-102346163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138063511	chr1:102346167-102346168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs10874524	chr1:102346198-102346199	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189474601	chr1:102346199-102346200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543083368	chr1:102346203-102346204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs144929857	chr1:102346207-102346208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181942619	chr1:102346209-102346210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs186147537	chr1:102346215-102346216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565324239	chr1:102346241-102346242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564455315	chr1:102346261-102346262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs60726147	chr1:102346359-102346360	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546168447	chr1:102346993-102346994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368581457	chr1:102347089-102347090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190660122	chr1:102347129-102347130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs536069673	chr1:102347138-102347139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150723010	chr1:102347157-102347158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	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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