Variant report

Variant	nsv8534
Chromosome Location	chr9:84519710-84526613
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	chr9:84521545-84522088	IMR90	lung:	n/a	n/a
2	CTCF	chr9:84520333-84520350	Pancreas_OC	pancreas:	n/a	n/a
3	E2F4	chr9:84521581-84522185	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr9:84521633-84521921	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr9:84521551-84521858	SK-N-SH_RA	brain:	n/a	n/a
6	FOS	chr9:84521269-84522186	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr9:84521269-84522184	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr9:84521550-84522185	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:84521305-84522089	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr9:84523911-84524047	HepG2	liver:	n/a	chr9:84523965-84523976
11	MYC	chr9:84521362-84522185	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr9:84521249-84522185	MCF10A-Er-Src	breast:	n/a	n/a
13	NFE2	chr9:84522410-84522415	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:84521250-84522227	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr9:84521465-84521800	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr9:84521763-84521946	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr9:84523835-84523927	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr9:84521468-84521874	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr9:84521460-84521899	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr9:84521313-84522185	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SPATA31D5P	TF binding region

Extended variants
information (count: 116 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570286493	chr9:84519728-84519729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180903548	chr9:84519729-84519730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553953230	chr9:84519757-84519758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572110587	chr9:84519825-84519826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115733381	chr9:84519833-84519834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557746037	chr9:84519834-84519835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532012251	chr9:84519851-84519852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577354036	chr9:84519858-84519859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544605704	chr9:84519887-84519888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552197198	chr9:84519901-84519902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574991599	chr9:84519995-84519996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184276902	chr9:84520002-84520003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560756855	chr9:84520021-84520022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565819809	chr9:84520064-84520065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534693861	chr9:84520066-84520067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143077121	chr9:84520105-84520106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138592321	chr9:84520133-84520134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2839926	chr9:84520142-84520143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76339117	chr9:84520162-84520163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113266735	chr9:84520163-84520164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117376460	chr9:84520254-84520255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116626680	chr9:84520255-84520256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373662533	chr9:84520265-84520266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141701216	chr9:84520266-84520267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145466182	chr9:84520298-84520299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190387104	chr9:84520306-84520307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576411734	chr9:84520316-84520317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537293155	chr9:84520343-84520344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7035080	chr9:84520387-84520388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574852989	chr9:84520394-84520395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542347091	chr9:84520400-84520401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560364489	chr9:84520414-84520415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7018590	chr9:84520436-84520437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182027475	chr9:84520461-84520462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186215255	chr9:84520511-84520512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142651307	chr9:84520525-84520526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577020809	chr9:84520601-84520602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546071126	chr9:84520603-84520604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35902014	chr9:84520621-84520622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531886692	chr9:84520622-84520623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550026842	chr9:84520632-84520633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561379800	chr9:84520642-84520643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78430965	chr9:84520648-84520649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs597447	chr9:84520657-84520658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139691249	chr9:84520686-84520687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190632449	chr9:84520696-84520697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539475995	chr9:84520879-84520880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149351937	chr9:84520883-84520884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572234490	chr9:84520892-84520893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144711325	chr9:84520898-84520899	Weak transcription	n/a	n/a	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84517800-84521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:84518000-84521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:84519600-84520000	Enhancers	Fetal Lung	lung
4	chr9:84521200-84522200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:84521400-84521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:84521400-84521800	Enhancers	NH-A	brain
7	chr9:84521400-84521800	Enhancers	Osteobl	bone
8	chr9:84521400-84522000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:84521400-84522400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:84526400-84526600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:84526600-84527000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:84526600-84527800	Enhancers	Liver	Liver

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