Variant report

Variant	esv2761549
Chromosome Location	chr9:105676720-105751862
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	CBX3	chr9:105732789-105732939	K562	blood:	n/a	n/a
2	CEBPB	chr9:105707049-105707340	A549	lung:	n/a	chr9:105707185-105707196
3	CEBPB	chr9:105707047-105707334	HepG2	liver:	n/a	chr9:105707185-105707196
4	CEBPB	chr9:105716482-105716594	H1-hESC	embryonic stem cell:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
5	CEBPB	chr9:105716400-105716709	HepG2	liver:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
6	CEBPB	chr9:105707036-105707335	IMR90	lung:	n/a	chr9:105707185-105707196
7	CEBPB	chr9:105715318-105715459	A549	lung:	n/a	n/a
8	CTCF	chr9:105717599-105717636	Lung_OC	lung:	n/a	n/a
9	CTCF	chr9:105729953-105729968	GM20000	blood:	n/a	n/a
10	CTCF	chr9:105747084-105747155	GM13976	blood:	n/a	n/a
11	E2F4	chr9:105748472-105748633	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr9:105744253-105744566	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr9:105690348-105690403	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr9:105725027-105725227	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr9:105749194-105749374	MCF10A-Er-Src	breast:	n/a	n/a
16	ESR1	chr9:105747761-105748124	ECC-1	luminal epithelium:	n/a	n/a
17	ESR1	chr9:105747697-105748193	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr9:105747816-105748084	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr9:105747764-105748093	ECC-1	luminal epithelium:	n/a	n/a
20	FOS	chr9:105712755-105712969	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr9:105744172-105744657	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:105716383-105716635	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:105744161-105744663	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:105712839-105712876	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr9:105724958-105725141	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
26	FOS	chr9:105712755-105712958	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr9:105724925-105725132	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
28	FOS	chr9:105744233-105744638	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr9:105702590-105702904	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr9:105736573-105737183	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr9:105736410-105737308	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr9:105744359-105744579	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr9:105736811-105737195	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr9:105736821-105737182	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr9:105702592-105702893	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr9:105724986-105725182	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
37	FOSL2	chr9:105736908-105737052	A549	lung:	n/a	n/a
38	FOSL2	chr9:105736773-105737181	MCF-7	breast:	n/a	n/a
39	GATA1	chr9:105683157-105683829	PBDE	blood:	n/a	n/a
40	GATA3	chr9:105706056-105706256	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr9:105724906-105725089	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr9:105736748-105737282	MCF-7	breast:	n/a	n/a
43	JUN	chr9:105695250-105695378	K562	blood:	n/a	n/a
44	JUN	chr9:105736889-105737033	HepG2	liver:	n/a	n/a
45	JUND	chr9:105736736-105737299	MCF-7	breast:	n/a	chr9:105736998-105737009
46	JUND	chr9:105702658-105702847	HepG2	liver:	n/a	chr9:105702742-105702753
47	JUND	chr9:105736848-105737171	HepG2	liver:	n/a	chr9:105736998-105737009
48	JUND	chr9:105736989-105737012	K562	blood:	n/a	chr9:105736998-105737009
49	KAP1	chr9:105732605-105733109	K562	blood:	n/a	n/a
50	MAFF	chr9:105704175-105704490	HepG2	liver:	n/a	chr9:105704334-105704352

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:105671845..105674344-chr9:105674742..105677700,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYLC2-3	chr9:105684856-105685526	NONHSAT133769

Variant related genes	Relation type
ENSG00000234269	TF binding region

Extended variants
information (count: 342 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559358762	chr9:105676730-105676731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528430736	chr9:105676736-105676737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79551133	chr9:105676746-105676747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548482750	chr9:105676761-105676762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192972590	chr9:105680409-105680410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573813630	chr9:105680429-105680430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540658077	chr9:105680468-105680469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76089840	chr9:105680489-105680490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149331440	chr9:105680491-105680492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533727343	chr9:105680503-105680504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371404499	chr9:105680558-105680559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544704142	chr9:105680569-105680570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367767981	chr9:105681591-105681592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540633524	chr9:105681592-105681593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553851061	chr9:105681596-105681597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574290589	chr9:105681607-105681608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557319515	chr9:105681650-105681651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs542935122	chr9:105681651-105681652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs184914899	chr9:105681653-105681654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs574461632	chr9:105683200-105683201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183317524	chr9:105683250-105683251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs188006957	chr9:105683301-105683302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs7037875	chr9:105683337-105683338	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs529964133	chr9:105683364-105683365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545775279	chr9:105683367-105683368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376245862	chr9:105683376-105683377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559688718	chr9:105683395-105683396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs10820309	chr9:105683398-105683399	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs193276195	chr9:105683516-105683517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561906809	chr9:105683551-105683552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185042417	chr9:105683552-105683553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs549635473	chr9:105683554-105683555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549862180	chr9:105683622-105683623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569758686	chr9:105683651-105683652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs561348426	chr9:105683665-105683666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs374963279	chr9:105683667-105683668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552104046	chr9:105683721-105683722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190270730	chr9:105683726-105683727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138089900	chr9:105683747-105683748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554898834	chr9:105683748-105683749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs528646341	chr9:105683759-105683760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs192533690	chr9:105683823-105683824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539526908	chr9:105684892-105684893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs28372411	chr9:105684896-105684897	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572796139	chr9:105684968-105684969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs113551423	chr9:105684982-105684983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs555188340	chr9:105685008-105685009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567012302	chr9:105685094-105685095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs77822898	chr9:105685145-105685146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs372272589	chr9:105685151-105685152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105676400-105676800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr9:105680400-105680600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:105694600-105695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:105694800-105695200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:105695000-105695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:105705000-105709400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:105747400-105748000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:105747400-105749200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:105747600-105747800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:105747800-105748600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr9:105747800-105748800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:105747800-105749200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:105748000-105748200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:105748400-105749200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr9:105748400-105749200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:105748600-105749200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:105748600-105749200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:105748800-105749000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:105748800-105749400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links