Variant report

Variant	nsv963585
Chromosome Location	chr4:9797896-9802611
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	EBF1	chr4:9802592-9802691	GM12878	blood:	n/a	n/a
2	FOSL2	chr4:9798259-9798665	HepG2	liver:	n/a	n/a
3	JUND	chr4:9798435-9798611	HepG2	liver:	n/a	n/a
4	MAX	chr4:9802549-9802884	NB4	blood:	n/a	chr4:9802698-9802709 chr4:9802710-9802720 chr4:9802710-9802723 chr4:9802712-9802721 chr4:9802697-9802707 chr4:9802711-9802722 chr4:9802703-9802719
5	MXI1	chr4:9802602-9802819	GM12878	blood:	n/a	chr4:9802711-9802720 chr4:9802713-9802722
6	POLR2A	chr4:9798851-9798894	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:9801634-9801856	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:9797631-9797972	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:9802498-9802866	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:9799873-9800006	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:9800628-9800787	HepG2	liver:	n/a	n/a
12	RFX5	chr4:9802603-9802631	GM12878	blood:	n/a	n/a
13	STAT3	chr4:9800257-9800457	MCF10A-Er-Src	breast:	n/a	n/a
14	USF1	chr4:9798434-9798586	HepG2	liver:	n/a	chr4:9798542-9798553
15	USF2	chr4:9802552-9802886	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RNA5SP154	TF binding region

Extended variants
information (count: 205 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141183770	chr4:9797916-9797917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184387875	chr4:9797919-9797920	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552068620	chr4:9798015-9798016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556255403	chr4:9798027-9798028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189070632	chr4:9798030-9798031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146955774	chr4:9798079-9798080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559976332	chr4:9798085-9798086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2139240	chr4:9798092-9798093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181452584	chr4:9798098-9798099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138052838	chr4:9798126-9798127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113406918	chr4:9798139-9798140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550775065	chr4:9798164-9798165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569420851	chr4:9798179-9798180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377529549	chr4:9798196-9798197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2867389	chr4:9798201-9798202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554272228	chr4:9798220-9798221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533354134	chr4:9798222-9798223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2867390	chr4:9798237-9798238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2867391	chr4:9798246-9798247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2867392	chr4:9798248-9798249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185646091	chr4:9798257-9798258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3060762	chr4:9798260-9798261	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567121521	chr4:9798290-9798291	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs10015812	chr4:9798316-9798317	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377537223	chr4:9798354-9798355	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555892702	chr4:9798372-9798373	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs150463413	chr4:9798395-9798396	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs138311708	chr4:9798519-9798520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs58691214	chr4:9798557-9798558	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149644486	chr4:9798566-9798567	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577330300	chr4:9798569-9798570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544559200	chr4:9798597-9798598	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs61020282	chr4:9798604-9798605	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs6449000	chr4:9798612-9798613	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35800794	chr4:9798645-9798646	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555175537	chr4:9798646-9798647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs367672511	chr4:9798651-9798652	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs547597979	chr4:9798665-9798666	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140023275	chr4:9798750-9798751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542542561	chr4:9798773-9798774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61121804	chr4:9798777-9798778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141989960	chr4:9798802-9798803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543640806	chr4:9798857-9798858	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs146328952	chr4:9798883-9798884	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370585682	chr4:9798904-9798905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191376363	chr4:9799000-9799001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180888025	chr4:9799005-9799006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566885270	chr4:9799032-9799033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1850738	chr4:9799134-9799135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185979058	chr4:9799137-9799138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9794400-9798000	Weak transcription	HMEC	breast
2	chr4:9794600-9805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:9794600-9812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:9797200-9806400	Weak transcription	HepG2	liver
5	chr4:9798200-9799200	Enhancers	HMEC	breast
6	chr4:9798800-9815000	Weak transcription	Lung	lung
7	chr4:9799200-9802000	Weak transcription	Liver	Liver
8	chr4:9799200-9819600	Weak transcription	HMEC	breast
9	chr4:9802400-9803400	Enhancers	Thymus	Thymus
10	chr4:9802600-9803800	Enhancers	Fetal Thymus	thymus

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