Variant report

Variant	nsv523969
Chromosome Location	chr8:5000907-5002478
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	chr8:5001807-5002140	HepG2	liver:	n/a	chr8:5001980-5001991 chr8:5001981-5001990 chr8:5001979-5001990
2	CEBPB	chr8:5001810-5002162	Hela-S3	cervix:	n/a	chr8:5001980-5001991 chr8:5001981-5001990 chr8:5001979-5001990
3	GATA3	chr8:5002436-5002605	SH-SY5Y	brain:	n/a	chr8:5002439-5002455 chr8:5002439-5002455 chr8:5002436-5002457
4	MAX	chr8:5001076-5001260	NB4	blood:	n/a	n/a
5	MAX	chr8:5000998-5001194	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF2	chr8:5001821-5001840	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RN7SL318P	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191548072	chr8:5001029-5001030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568308782	chr8:5001030-5001031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs535635907	chr8:5001063-5001064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555111947	chr8:5001064-5001065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182575799	chr8:5001070-5001071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369995553	chr8:5001100-5001101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148531713	chr8:5001130-5001131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558648002	chr8:5001141-5001142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs145244340	chr8:5001143-5001144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs528255204	chr8:5001161-5001162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs188043158	chr8:5001164-5001165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7002556	chr8:5001174-5001175	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77790360	chr8:5001221-5001222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs193032202	chr8:5001227-5001228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539982963	chr8:5001806-5001807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs137989324	chr8:5001820-5001821	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372987907	chr8:5001834-5001835	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556507582	chr8:5001884-5001885	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs543459301	chr8:5001890-5001891	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184819815	chr8:5001898-5001899	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573660310	chr8:5001907-5001908	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs188055555	chr8:5001935-5001936	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs557598590	chr8:5001953-5001954	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532989184	chr8:5001956-5001957	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs73509424	chr8:5001961-5001962	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4875449	chr8:5001996-5001997	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531658546	chr8:5002000-5002001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs6558970	chr8:5002008-5002009	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201779414	chr8:5002014-5002015	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568144350	chr8:5002018-5002019	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs374912061	chr8:5002039-5002040	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527696868	chr8:5002074-5002075	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs541504017	chr8:5002083-5002084	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541627713	chr8:5002084-5002085	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs199602166	chr8:5002086-5002087	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368309131	chr8:5002087-5002088	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs370702312	chr8:5002090-5002091	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs371882972	chr8:5002091-5002092	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9694425	chr8:5002092-5002093	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11786744	chr8:5002099-5002100	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566316381	chr8:5002104-5002105	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs140858290	chr8:5002126-5002127	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558298546	chr8:5002127-5002128	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570249797	chr8:5002128-5002129	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537173415	chr8:5002145-5002146	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs138219259	chr8:5002190-5002191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555500628	chr8:5002199-5002200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573723493	chr8:5002230-5002231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145816659	chr8:5002260-5002261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552992936	chr8:5002261-5002262	Enhancers	n/a	n/a	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
Ductal carcinoma	22052326	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5001800-5003600	Enhancers	NHEK	skin
2	chr8:5002200-5002600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:5002400-5003600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links