Variant report

Variant	nsv968480
Chromosome Location	chr8:5323763-5332980
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	CEBPB	chr8:5329623-5329678	HepG2	liver:	n/a	chr8:5329646-5329657
2	CEBPB	chr8:5327874-5327932	HepG2	liver:	n/a	chr8:5327888-5327899
3	CTCF	chr8:5328800-5328950	HPF	lung:	n/a	n/a
4	CTCF	chr8:5330800-5330950	GM12864	blood:	n/a	n/a
5	CTCF	chr8:5331000-5331150	GM12871	blood:	n/a	n/a

Variant related genes	Relation type
RPL23AP54	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17073666	chr8:5329640-5329641	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116348648	chr8:5329659-5329660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143487880	chr8:5329663-5329664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs543021602	chr8:5329664-5329665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531198130	chr8:5329675-5329676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146077984	chr8:5330801-5330802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556315490	chr8:5330802-5330803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574751473	chr8:5330815-5330816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371222315	chr8:5330823-5330824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542362563	chr8:5330824-5330825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560534534	chr8:5330839-5330840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139944069	chr8:5330908-5330909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564298022	chr8:5330925-5330926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550571975	chr8:5330927-5330928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35254697	chr8:5330928-5330929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs151229237	chr8:5331004-5331005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192797370	chr8:5331013-5331014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs552392680	chr8:5331037-5331038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374574058	chr8:5331055-5331056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185243335	chr8:5331059-5331060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs199770105	chr8:5331062-5331063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs538182467	chr8:5331068-5331069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs556785212	chr8:5331070-5331071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568374720	chr8:5331072-5331073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs368943999	chr8:5331100-5331101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs117563390	chr8:5331109-5331110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs74590397	chr8:5331137-5331138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	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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