Variant report

Variant	nsv8538
Chromosome Location	chr9:84885409-84887662
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	FOS	chr9:84886235-84886285	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr9:84886231-84886347	MCF10A-Er-Src	breast:	n/a	n/a
3	PBX3	chr9:84885994-84886565	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr9:84886969-84887073	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:84886151-84886363	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr9:84886050-84886163	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr9:84885948-84886640	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr9:84885895-84886675	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000228430	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34245219	chr9:84885442-84885443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569101178	chr9:84885527-84885528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13287339	chr9:84885589-84885590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573124391	chr9:84885594-84885595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535112719	chr9:84885731-84885732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35087362	chr9:84885741-84885742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553466348	chr9:84885775-84885776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577937854	chr9:84885806-84885807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541791565	chr9:84885973-84885974	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79701982	chr9:84885983-84885984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563547384	chr9:84885995-84885996	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575491294	chr9:84885996-84885997	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542915704	chr9:84886014-84886015	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs561143228	chr9:84886022-84886023	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs530871666	chr9:84886047-84886048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4877229	chr9:84886165-84886166	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565017720	chr9:84886187-84886188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532127427	chr9:84886259-84886260	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550511545	chr9:84886262-84886263	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190884315	chr9:84886328-84886329	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570952217	chr9:84886332-84886333	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs536549613	chr9:84886356-84886357	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117156887	chr9:84886384-84886385	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs34150430	chr9:84886448-84886449	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373611688	chr9:84886477-84886478	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs566656409	chr9:84886562-84886563	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534020247	chr9:84886581-84886582	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs377369996	chr9:84886594-84886595	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs141356821	chr9:84886621-84886622	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182983185	chr9:84886646-84886647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs147447848	chr9:84886663-84886664	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557274778	chr9:84886687-84886688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567118953	chr9:84886690-84886691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34387087	chr9:84886709-84886710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373191070	chr9:84886723-84886724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575281260	chr9:84886734-84886735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187316295	chr9:84886737-84886738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561278593	chr9:84886788-84886789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111754446	chr9:84886791-84886792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77171312	chr9:84886795-84886796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137912121	chr9:84886808-84886809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368530442	chr9:84886815-84886816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77463195	chr9:84886836-84886837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59025059	chr9:84886870-84886871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373848735	chr9:84886941-84886942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115362714	chr9:84886960-84886961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544025828	chr9:84886965-84886966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562461700	chr9:84886966-84886967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139893244	chr9:84886969-84886970	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs548482825	chr9:84887035-84887036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84879000-84887400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:84881400-84889000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:84884800-84888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:84884800-84890800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:84885000-84885600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:84885000-84887200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:84885000-84887400	Enhancers	NHLF	lung
8	chr9:84885000-84888800	Enhancers	NHDF-Ad	bronchial
9	chr9:84885400-84885600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:84885400-84885600	Enhancers	HSMM	muscle
11	chr9:84885400-84886800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:84885400-84887200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:84885400-84887200	Enhancers	Osteobl	bone
14	chr9:84885600-84888000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr9:84885600-84888200	Weak transcription	HSMM	muscle
16	chr9:84885600-84888600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:84885600-84888600	Enhancers	NH-A	brain
18	chr9:84886000-84886200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:84886000-84886400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:84886200-84886400	Enhancers	HMEC	breast
21	chr9:84886200-84886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:84886200-84890200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:84886800-84888000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:84887200-84890400	Weak transcription	Osteobl	bone
25	chr9:84887200-84890600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:84887400-84887800	Weak transcription	NHLF	lung
27	chr9:84887400-84888400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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