Variant report

Variant	nsv615026
Chromosome Location	chr9:105042624-105058421
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	chr9:105045700-105045900	A549	lung:	n/a	n/a
2	CEBPB	chr9:105053288-105053488	HepG2	liver:	n/a	chr9:105053392-105053403
3	CEBPB	chr9:105045628-105045943	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:105053338-105053531	A549	lung:	n/a	chr9:105053392-105053403
5	E2F4	chr9:105047302-105047493	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr9:105046506-105046792	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr9:105056777-105056954	MCF10A-Er-Src	breast:	n/a	n/a
8	JUN	chr9:105054402-105054602	K562	blood:	n/a	n/a
9	MAFK	chr9:105047678-105047750	HepG2	liver:	n/a	n/a
10	MYC	chr9:105045635-105045785	MCF10A-Er-Src	breast:	n/a	chr9:105045692-105045703 chr9:105045692-105045703 chr9:105045692-105045702 chr9:105045692-105045703 chr9:105045691-105045704
11	POLR2A	chr9:105047498-105047573	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr9:105048853-105048902	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr9:105054341-105054392	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr9:105051051-105051244	Gliobla	brain:	n/a	n/a
15	POLR2A	chr9:105053240-105053285	MCF-7	breast:	n/a	n/a
16	POLR2A	chr9:105043310-105043345	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr9:105056311-105056511	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr9:105053738-105053935	MCF10A-Er-Src	breast:	n/a	chr9:105053863-105053874
19	STAT3	chr9:105056031-105056077	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-5	chr9:105045829-105045892	NONHSAT133761
2	lnc-C9orf107-1	chr9:105053028-105053194	XLOC_007495
3	lnc-C9orf107-5	chr9:105055136-105055273	NONHSAT133761
4	lnc-C9orf107-1	chr9:105052402-105052947	XLOC_007495

Variant related genes	Relation type
ENSG00000222117	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10989951	chr9:105042624-105042625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192428102	chr9:105042627-105042628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10989952	chr9:105042645-105042646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569825833	chr9:105042654-105042655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538942558	chr9:105042714-105042715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549267364	chr9:105042755-105042756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558436479	chr9:105042801-105042802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563939954	chr9:105042802-105042803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs137976318	chr9:105042865-105042866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372168900	chr9:105042907-105042908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10989953	chr9:105042946-105042947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540557662	chr9:105042953-105042954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540285669	chr9:105042975-105042976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76086432	chr9:105042980-105042981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58178571	chr9:105043031-105043032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542642420	chr9:105043106-105043107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80091709	chr9:105043110-105043111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1923994	chr9:105043157-105043158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10121331	chr9:105043161-105043162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565431323	chr9:105043171-105043172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141762028	chr9:105043172-105043173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548050360	chr9:105043237-105043238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535856351	chr9:105043266-105043267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184690076	chr9:105043286-105043287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116759580	chr9:105043343-105043344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549479990	chr9:105043386-105043387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569647210	chr9:105043401-105043402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12236544	chr9:105043424-105043425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552059724	chr9:105043471-105043472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10820119	chr9:105043476-105043477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534502381	chr9:105043607-105043608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147111788	chr9:105043610-105043611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566725452	chr9:105043629-105043630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72734528	chr9:105043652-105043653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536774554	chr9:105043656-105043657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189476012	chr9:105043716-105043717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74565816	chr9:105043722-105043723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10820120	chr9:105043748-105043749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs572898212	chr9:105045876-105045877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs139141234	chr9:105045880-105045881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs371443067	chr9:105052413-105052414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs188943570	chr9:105052476-105052477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs41282165	chr9:105052554-105052555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs41282167	chr9:105052574-105052575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541849613	chr9:105052622-105052623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs150305607	chr9:105052627-105052628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575634946	chr9:105052634-105052635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs41282169	chr9:105052647-105052648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs137890671	chr9:105052679-105052680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs532610007	chr9:105052713-105052714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105042400-105043000	Enhancers	Fetal Kidney	kidney
2	chr9:105043000-105043600	Weak transcription	Fetal Kidney	kidney
3	chr9:105043600-105043800	Enhancers	Fetal Kidney	kidney

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