Variant report

Variant	nsv972630
Chromosome Location	chr9:105678083-105702035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr9:105690348-105690403	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr9:105683157-105683829	PBDE	blood:	n/a	n/a
3	JUN	chr9:105695250-105695378	K562	blood:	n/a	n/a
4	MAFK	chr9:105699541-105699678	HepG2	liver:	n/a	n/a
5	MAFK	chr9:105699546-105699715	HepG2	liver:	n/a	n/a
6	MYC	chr9:105692239-105692368	GM12878	blood:	n/a	n/a
7	MYC	chr9:105692318-105692371	K562	blood:	n/a	n/a
8	MYC	chr9:105690556-105690674	K562	blood:	n/a	n/a
9	POLR2A	chr9:105681559-105681654	A549	lung:	n/a	n/a
10	POLR2A	chr9:105679210-105679410	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr9:105686058-105686093	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:105681558-105681654	MCF-7	breast:	n/a	n/a
13	POLR2A	chr9:105695351-105695430	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr9:105685186-105685262	Gliobla	brain:	n/a	n/a
15	POLR2A	chr9:105685268-105685303	Gliobla	brain:	n/a	n/a
16	POLR2A	chr9:105693761-105693801	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr9:105677958-105678158	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr9:105693798-105693998	MCF10A-Er-Src	breast:	n/a	n/a
19	USF1	chr9:105694568-105694891	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr9:105694523-105694873	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000234269	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192972590	chr9:105680409-105680410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573813630	chr9:105680429-105680430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540658077	chr9:105680468-105680469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76089840	chr9:105680489-105680490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149331440	chr9:105680491-105680492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533727343	chr9:105680503-105680504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371404499	chr9:105680558-105680559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544704142	chr9:105680569-105680570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367767981	chr9:105681591-105681592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540633524	chr9:105681592-105681593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553851061	chr9:105681596-105681597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574290589	chr9:105681607-105681608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557319515	chr9:105681650-105681651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542935122	chr9:105681651-105681652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184914899	chr9:105681653-105681654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574461632	chr9:105683200-105683201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183317524	chr9:105683250-105683251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188006957	chr9:105683301-105683302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7037875	chr9:105683337-105683338	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs529964133	chr9:105683364-105683365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545775279	chr9:105683367-105683368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376245862	chr9:105683376-105683377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559688718	chr9:105683395-105683396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs10820309	chr9:105683398-105683399	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs193276195	chr9:105683516-105683517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561906809	chr9:105683551-105683552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs185042417	chr9:105683552-105683553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549635473	chr9:105683554-105683555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549862180	chr9:105683622-105683623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569758686	chr9:105683651-105683652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561348426	chr9:105683665-105683666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs374963279	chr9:105683667-105683668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552104046	chr9:105683721-105683722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190270730	chr9:105683726-105683727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs138089900	chr9:105683747-105683748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs554898834	chr9:105683748-105683749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528646341	chr9:105683759-105683760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs192533690	chr9:105683823-105683824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539526908	chr9:105684892-105684893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs28372411	chr9:105684896-105684897	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572796139	chr9:105684968-105684969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113551423	chr9:105684982-105684983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs555188340	chr9:105685008-105685009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567012302	chr9:105685094-105685095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs77822898	chr9:105685145-105685146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs372272589	chr9:105685151-105685152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs141917056	chr9:105685165-105685166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs555646620	chr9:105685170-105685171	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs551938313	chr9:105685173-105685174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs575145508	chr9:105685176-105685177	Inactive region	lncRNA	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
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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105680400-105680600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:105694600-105695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:105694800-105695200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr9:105695000-105695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links