Variant report

Variant	nsv969593
Chromosome Location	chr9:44072916-44074101
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	BCL11A	chr9:44073319-44073596	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:44073384-44073568	GM12878	blood:	n/a	n/a
3	BHLHE40	chr9:44073319-44073559	HepG2	liver:	n/a	n/a
4	EP300	chr9:44073309-44073564	GM12878	blood:	n/a	chr9:44073441-44073455
5	FOSL2	chr9:44073310-44073642	HepG2	liver:	n/a	n/a
6	FOSL2	chr9:44073260-44073619	HepG2	liver:	n/a	n/a
7	FOXA2	chr9:44072470-44072964	A549	lung:	n/a	n/a
8	GABPA	chr9:44073312-44073533	Hela-S3	cervix:	n/a	n/a
9	JUND	chr9:44073364-44073538	HepG2	liver:	n/a	n/a
10	PAX5	chr9:44073302-44073620	GM12878	blood:	n/a	n/a
11	SIX5	chr9:44073317-44073544	K562	blood:	n/a	n/a
12	SP1	chr9:44073209-44073685	GM12878	blood:	n/a	n/a
13	TCF3	chr9:44073288-44073599	GM12878	blood:	n/a	n/a
14	ZBTB33	chr9:44073388-44073623	K562	blood:	n/a	n/a
15	ZBTB33	chr9:44073288-44073949	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000170165	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148926568	chr9:44072920-44072921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143474995	chr9:44072923-44072924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144160779	chr9:44072944-44072945	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142186702	chr9:44072950-44072951	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146905521	chr9:44072952-44072953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369363461	chr9:44072974-44072975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373548523	chr9:44072991-44072992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62537384	chr9:44073001-44073002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533868761	chr9:44073007-44073008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62537385	chr9:44073043-44073044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573565718	chr9:44073050-44073051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73443639	chr9:44073069-44073070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201067952	chr9:44073099-44073100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373045681	chr9:44073111-44073112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62537386	chr9:44073137-44073138	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs111896804	chr9:44073143-44073144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113378969	chr9:44073148-44073149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200133678	chr9:44073155-44073156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375782512	chr9:44073159-44073160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200652124	chr9:44073162-44073163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201075225	chr9:44073171-44073172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111362796	chr9:44073172-44073173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113049206	chr9:44073178-44073179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556207116	chr9:44073190-44073191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76069006	chr9:44073224-44073225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62537387	chr9:44073240-44073241	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377220153	chr9:44073248-44073249	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs370092333	chr9:44073318-44073319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62537388	chr9:44073329-44073330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs370967883	chr9:44073341-44073342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577494378	chr9:44073350-44073351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs374662842	chr9:44073356-44073357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377384819	chr9:44073362-44073363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs62537389	chr9:44073368-44073369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62537390	chr9:44073371-44073372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs373336671	chr9:44073378-44073379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs370677434	chr9:44073401-44073402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs201460837	chr9:44073404-44073405	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs62537391	chr9:44073418-44073419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs62537392	chr9:44073425-44073426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs62537393	chr9:44073443-44073444	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369196293	chr9:44073448-44073449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372782564	chr9:44073492-44073493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200361542	chr9:44073578-44073579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201153923	chr9:44073584-44073585	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs199650047	chr9:44073589-44073590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200615375	chr9:44073613-44073614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs74307874	chr9:44073619-44073620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs62537394	chr9:44073643-44073644	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371189344	chr9:44073654-44073655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44071000-44092000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links