Variant report

Variant	nsv466307
Chromosome Location	chr9:25027430-25119899
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	chr9:25113838-25114177	HepG2	liver:	n/a	chr9:25113981-25113994 chr9:25113981-25113994 chr9:25113982-25113993 chr9:25113981-25113994 chr9:25113981-25113992
2	CEBPB	chr9:25080310-25080602	A549	lung:	n/a	chr9:25080435-25080446
3	CEBPB	chr9:25032987-25033173	A549	lung:	n/a	n/a
4	CEBPB	chr9:25080282-25080607	HepG2	liver:	n/a	chr9:25080435-25080446
5	CEBPB	chr9:25113820-25114148	IMR90	lung:	n/a	chr9:25113981-25113994 chr9:25113981-25113994 chr9:25113982-25113993 chr9:25113981-25113994 chr9:25113981-25113992
6	CEBPB	chr9:25030939-25031206	A549	lung:	n/a	chr9:25031104-25031115 chr9:25031051-25031062
7	CEBPB	chr9:25080318-25080550	Hela-S3	cervix:	n/a	chr9:25080435-25080446
8	CEBPB	chr9:25040306-25040459	IMR90	lung:	n/a	n/a
9	CEBPB	chr9:25030951-25031210	HepG2	liver:	n/a	chr9:25031104-25031115 chr9:25031051-25031062
10	CEBPB	chr9:25061742-25062230	HepG2	liver:	n/a	chr9:25061891-25061902
11	CEBPB	chr9:25076912-25077160	HepG2	liver:	n/a	chr9:25077037-25077048
12	CEBPB	chr9:25113879-25114154	A549	lung:	n/a	chr9:25113981-25113994 chr9:25113981-25113994 chr9:25113982-25113993 chr9:25113981-25113994 chr9:25113981-25113992
13	CEBPB	chr9:25093460-25093660	HepG2	liver:	n/a	chr9:25093560-25093571
14	CEBPB	chr9:25061791-25062224	A549	lung:	n/a	chr9:25061891-25061902
15	CTCF	chr9:25042925-25042951	LNCaP	prostate:	n/a	n/a
16	CTCF	chr9:25038938-25038978	GM20000	blood:	n/a	n/a
17	CTCF	chr9:25051514-25051546	Lung_OC	lung:	n/a	n/a
18	CTCF	chr9:25037700-25037749	LNCaP	prostate:	n/a	n/a
19	E2F4	chr9:25089914-25090146	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr9:25067594-25067805	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr9:25096354-25096500	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr9:25094628-25094828	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr9:25091584-25091859	SK-N-SH_RA	brain:	n/a	chr9:25091782-25091796
24	FOS	chr9:25087421-25087816	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr9:25089834-25090135	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr9:25078385-25078561	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr9:25094542-25094933	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr9:25119582-25119800	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr9:25039198-25039384	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr9:25048275-25048587	MCF10A-Er-Src	breast:	n/a	chr9:25048426-25048436 chr9:25048427-25048435 chr9:25048425-25048437 chr9:25048428-25048435 chr9:25048427-25048436
31	FOS	chr9:25087433-25087828	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr9:25078278-25078508	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr9:25078387-25078517	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr9:25087433-25087763	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr9:25030247-25030350	MCF10A-Er-Src	breast:	n/a	chr9:25030255-25030267
36	FOS	chr9:25094533-25094903	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr9:25048241-25048619	MCF10A-Er-Src	breast:	n/a	chr9:25048426-25048436 chr9:25048427-25048435 chr9:25048425-25048437 chr9:25048428-25048435 chr9:25048427-25048436
38	FOS	chr9:25094501-25094905	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr9:25094263-25094296	MCF10A-Er-Src	breast:	n/a	chr9:25094287-25094295
40	FOS	chr9:25087395-25087815	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr9:25089805-25090158	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:25048335-25048521	MCF10A-Er-Src	breast:	n/a	chr9:25048426-25048436 chr9:25048427-25048435 chr9:25048425-25048437 chr9:25048428-25048435 chr9:25048427-25048436
43	FOS	chr9:25048257-25048581	MCF10A-Er-Src	breast:	n/a	chr9:25048426-25048436 chr9:25048427-25048435 chr9:25048425-25048437 chr9:25048428-25048435 chr9:25048427-25048436
44	FOS	chr9:25094606-25094831	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:25089773-25090158	MCF10A-Er-Src	breast:	n/a	n/a
46	FOXA1	chr9:25076381-25076658	HepG2	liver:	n/a	n/a
47	FOXA2	chr9:25045453-25045892	A549	lung:	n/a	n/a
48	FOXA2	chr9:25076138-25076703	A549	lung:	n/a	n/a
49	FOXA2	chr9:25076277-25076639	A549	lung:	n/a	n/a
50	GATA2	chr9:25037150-25037568	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:25096345..25098093-chr9:25100107..25101850,2	MCF-7	breast:
2	chr9:25096345..25098093-chr9:25100107..25101850,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IZUMO3-1	chr9:25088809-25089149	NONHSAT130498

Variant related genes	Relation type
RN7SKP120	TF binding region

Extended variants
information (count: 441 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112122911	chr9:25048426-25048427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377048289	chr9:25048434-25048435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548507542	chr9:25048472-25048473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142549657	chr9:25048477-25048478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537218308	chr9:25048493-25048494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183127778	chr9:25048509-25048510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570192274	chr9:25048519-25048520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79602536	chr9:25048521-25048522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552541969	chr9:25048532-25048533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187673780	chr9:25048546-25048547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541464623	chr9:25048578-25048579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73473771	chr9:25048632-25048633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142102464	chr9:25048637-25048638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34581582	chr9:25048659-25048660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115696124	chr9:25048690-25048691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76559557	chr9:25048742-25048743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532634644	chr9:25048758-25048759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546358085	chr9:25048761-25048762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559777189	chr9:25048783-25048784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2783959	chr9:25050407-25050408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568684517	chr9:25050409-25050410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34103802	chr9:25050437-25050438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1461327	chr9:25050438-25050439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533666403	chr9:25050485-25050486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546932733	chr9:25050486-25050487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139847555	chr9:25050515-25050516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112393574	chr9:25050540-25050541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555948170	chr9:25050586-25050587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534571130	chr9:25076801-25076802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200704817	chr9:25076831-25076832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181964889	chr9:25076834-25076835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370266750	chr9:25076844-25076845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201879056	chr9:25076855-25076856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143569764	chr9:25076868-25076869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184638788	chr9:25076878-25076879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557010400	chr9:25076879-25076880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371675939	chr9:25076901-25076902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576912315	chr9:25076904-25076905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148107588	chr9:25076905-25076906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559048757	chr9:25076908-25076909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142899760	chr9:25076909-25076910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146057522	chr9:25076918-25076919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28715468	chr9:25076919-25076920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35218878	chr9:25076931-25076932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550442378	chr9:25076932-25076933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539356632	chr9:25076972-25076973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559164211	chr9:25076981-25076982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563908146	chr9:25076994-25076995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150909956	chr9:25077020-25077021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190146465	chr9:25077025-25077026	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	21811587	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25048400-25048800	Enhancers	Adipose Nuclei	Adipose
2	chr9:25050400-25050600	Enhancers	Adipose Nuclei	Adipose
3	chr9:25076800-25077200	Enhancers	Hela-S3	cervix
4	chr9:25090600-25091000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:25090600-25091000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:25091000-25091400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:25115000-25115600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:25115600-25117400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:25117400-25118000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr9:25118000-25119600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:25118400-25120200	Enhancers	Fetal Lung	lung
12	chr9:25119600-25120000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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