Variant report

Variant	nsv1043740
Chromosome Location	chr9:106017286-106052433
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	CCNT2	chr9:106031446-106031635	K562	blood:	n/a	n/a
2	CEBPB	chr9:106052331-106052547	A549	lung:	n/a	chr9:106052407-106052418
3	CEBPB	chr9:106052306-106052573	HepG2	liver:	n/a	chr9:106052407-106052418
4	CEBPB	chr9:106042233-106042464	HepG2	liver:	n/a	chr9:106042358-106042369 chr9:106042357-106042370 chr9:106042357-106042368
5	CTCF	chr9:106023671-106023719	GM10266	blood:	n/a	n/a
6	CTCF	chr9:106025270-106025310	LNCaP	prostate:	n/a	n/a
7	CTCF	chr9:106027900-106028050	HVMF	connective:	n/a	n/a
8	FAM48A	chr9:106041932-106042070	GM12878	blood:	n/a	n/a
9	GATA3	chr9:106051440-106051593	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr9:106043398-106043544	SH-SY5Y	brain:	n/a	n/a
11	JUN	chr9:106027751-106027830	K562	blood:	n/a	n/a
12	MAFF	chr9:106039534-106039891	HepG2	liver:	n/a	chr9:106039704-106039722
13	MAFF	chr9:106039559-106039873	K562	blood:	n/a	chr9:106039704-106039722
14	MAFK	chr9:106039547-106039895	IMR90	lung:	n/a	chr9:106039706-106039721
15	MAFK	chr9:106039576-106039861	K562	blood:	n/a	chr9:106039706-106039721
16	MAFK	chr9:106039562-106039821	H1-hESC	embryonic stem cell:	n/a	chr9:106039706-106039721
17	MAFK	chr9:106039608-106039889	Hela-S3	cervix:	n/a	chr9:106039706-106039721
18	MAFK	chr9:106039528-106039883	HepG2	liver:	n/a	chr9:106039706-106039721
19	MAFK	chr9:106039531-106039900	HepG2	liver:	n/a	chr9:106039706-106039721
20	MYC	chr9:106018957-106018978	MCF-7	breast:	n/a	n/a
21	NFYA	chr9:106026849-106027025	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:106034173-106034252	Gliobla	brain:	n/a	n/a
23	POLR2A	chr9:106028230-106028254	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr9:106051467-106051638	MCF10A-Er-Src	breast:	n/a	n/a
25	SETDB1	chr9:106033327-106033672	U2OS	brain:	n/a	n/a
26	STAT3	chr9:106033379-106033710	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr9:106022616-106022776	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr9:106050770-106050796	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr9:106029461-106029513	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr9:106044336-106044388	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr9:106017677-106017877	MCF10A-Er-Src	breast:	n/a	n/a
32	ZNF384	chr9:106046172-106046222	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:105976143..105978580-chr9:106020426..106022404,2	K562	blood:
2	chr9:106014840..106017109-chr9:106017539..106019637,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR13C4-4	chr9:106038313-106038430	ENSG00000225564
2	lnc-OR13C4-4	chr9:106039612-106039781	ENSG00000225564.2
3	lnc-OR13C4-4	chr9:106039612-106039781	ENSG00000225564
4	lnc-OR13C4-4	chr9:106026806-106026932	ENSG00000225564
5	lnc-OR13C4-4	chr9:106039612-106039781	ENSG00000225564
6	lnc-OR13C4-4	chr9:106038313-106038430	ENSG00000225564
7	lnc-OR13C4-4	chr9:106038313-106038430	ENSG00000225564.2
8	lnc-OR13C4-4	chr9:106026893-106026930	ENSG00000225564

Variant related genes	Relation type
ENSG00000225564	TF binding region
ENSG00000225564	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77793171	chr9:106017548-106017549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374702336	chr9:106017586-106017587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550353949	chr9:106017587-106017588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142760466	chr9:106017595-106017596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557584439	chr9:106017604-106017605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146949971	chr9:106017612-106017613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375495622	chr9:106017626-106017627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138120674	chr9:106017661-106017662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193174231	chr9:106017679-106017680	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143587939	chr9:106017700-106017701	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184556215	chr9:106017742-106017743	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80187778	chr9:106017745-106017746	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568895395	chr9:106017831-106017832	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536743996	chr9:106017869-106017870	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188432906	chr9:106017884-106017885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557587169	chr9:106017965-106017966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs16922663	chr9:106017998-106017999	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540121857	chr9:106018009-106018010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57573500	chr9:106018038-106018039	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113335709	chr9:106018049-106018050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200077309	chr9:106018098-106018099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs72381775	chr9:106018099-106018100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542166158	chr9:106018100-106018101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561978985	chr9:106018123-106018124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183895680	chr9:106018130-106018131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150559683	chr9:106018134-106018135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115295792	chr9:106018170-106018171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189406185	chr9:106018196-106018197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540063380	chr9:106018197-106018198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139663919	chr9:106018230-106018231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529185130	chr9:106018246-106018247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578120505	chr9:106018276-106018277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548955240	chr9:106018283-106018284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545540415	chr9:106018290-106018291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117505177	chr9:106018292-106018293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181826372	chr9:106018308-106018309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551536442	chr9:106018339-106018340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571381141	chr9:106018353-106018354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539991670	chr9:106018356-106018357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149318156	chr9:106018357-106018358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371284273	chr9:106018415-106018416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376947885	chr9:106018427-106018428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567143503	chr9:106018430-106018431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531082880	chr9:106018435-106018436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535818170	chr9:106018439-106018440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555708541	chr9:106018447-106018448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575267356	chr9:106018449-106018450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185784749	chr9:106018485-106018486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368676560	chr9:106018488-106018489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10820406	chr9:106018528-106018529	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:106020600-106021000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:106027800-106028400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:106027800-106028600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr9:106027800-106028800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:106027800-106028800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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