Variant report

Variant	nsv892601
Chromosome Location	chr9:14380528-14405555
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	ARID3A	chr9:14395690-14396284	K562	blood:	n/a	n/a
2	ARID3A	chr9:14400829-14400896	K562	blood:	n/a	n/a
3	ATF1	chr9:14395649-14396120	K562	blood:	n/a	n/a
4	ATF2	chr9:14400583-14401062	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr9:14400691-14400947	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr9:14395590-14396000	K562	blood:	n/a	chr9:14395785-14395800
7	ATF3	chr9:14400649-14401037	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr9:14400634-14400964	K562	blood:	n/a	n/a
9	BHLHE40	chr9:14395770-14396142	K562	blood:	n/a	n/a
10	CBX3	chr9:14394337-14394839	K562	blood:	n/a	n/a
11	CBX3	chr9:14395619-14396150	K562	blood:	n/a	n/a
12	CBX3	chr9:14395688-14395906	K562	blood:	n/a	n/a
13	CBX3	chr9:14391620-14392000	K562	blood:	n/a	n/a
14	CCNT2	chr9:14395681-14396316	K562	blood:	n/a	chr9:14395901-14395910
15	CEBPB	chr9:14400562-14401044	MCF-7	breast:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
16	CEBPB	chr9:14400455-14401157	A549	lung:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
17	CEBPB	chr9:14400548-14401028	Hela-S3	cervix:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
18	CEBPB	chr9:14395662-14396037	K562	blood:	n/a	n/a
19	CEBPB	chr9:14400581-14401046	A549	lung:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
20	CEBPB	chr9:14400652-14400963	ECC-1	luminal epithelium:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
21	CEBPB	chr9:14400558-14401054	H1-hESC	embryonic stem cell:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
22	CEBPB	chr9:14400614-14401033	HepG2	liver:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
23	CEBPB	chr9:14400655-14400907	K562	blood:	n/a	chr9:14400854-14400867 chr9:14400854-14400865
24	CEBPB	chr9:14400554-14401035	MCF-7	breast:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
25	CEBPB	chr9:14400564-14401045	K562	blood:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
26	CEBPB	chr9:14400579-14401025	K562	blood:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
27	CEBPB	chr9:14395509-14396089	K562	blood:	n/a	n/a
28	CEBPB	chr9:14400524-14400999	A549	lung:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
29	CEBPB	chr9:14400544-14401044	IMR90	lung:	n/a	chr9:14400854-14400867 chr9:14400925-14400933 chr9:14400854-14400865
30	CEBPD	chr9:14395576-14396216	K562	blood:	n/a	n/a
31	CEBPD	chr9:14395708-14396154	K562	blood:	n/a	n/a
32	CHD2	chr9:14395684-14396082	K562	blood:	n/a	n/a
33	CREB1	chr9:14400663-14401106	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr9:14395539-14396176	K562	blood:	n/a	chr9:14395786-14395799
35	CREB1	chr9:14400624-14400958	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr9:14400700-14400850	HCM	heart:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
37	CTCF	chr9:14400720-14400870	AG04449	skin:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
38	CTCF	chr9:14400660-14400810	NHEK	skin:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
39	CTCF	chr9:14394720-14394870	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr9:14400636-14400930	HUVEC	blood vessel:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
41	CTCF	chr9:14400720-14400870	HFF	foreskin:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
42	CTCF	chr9:14400740-14400890	HRPEpiC	eye:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
43	CTCF	chr9:14392607-14392694	GM13976	blood:	n/a	n/a
44	CTCF	chr9:14400603-14400974	K562	blood:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
45	CTCF	chr9:14400766-14400810	MCF-7	breast:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
46	CTCF	chr9:14400700-14400850	HBMEC	blood vessel:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
47	CTCF	chr9:14400760-14400910	HAc	cerebellar:	n/a	chr9:14400769-14400790 chr9:14400774-14400792
48	CTCF	chr9:14400840-14400990	A549	lung:	n/a	n/a
49	CTCF	chr9:14400780-14400930	HAc	cerebellar:	n/a	n/a
50	CTCF	chr9:14400625-14400976	H1-hESC	embryonic stem cell:	n/a	chr9:14400769-14400790 chr9:14400774-14400792

No.	Distal block	Cell Line	Cell type
1	chr9:14394155..14396328-chr9:14428171..14430413,2	K562	blood:
2	chr9:14387379..14389849-chr9:14391400..14393635,3	K562	blood:
3	chr9:14321710..14325168-chr9:14394622..14396221,3	K562	blood:
4	chr9:14314559..14316138-chr9:14400048..14402304,2	MCF-7	breast:
5	chr9:14403148..14405740-chr9:14406135..14409035,2	K562	blood:
6	chr9:14379416..14381139-chr9:14386208..14387790,2	MCF-7	breast:
7	chr9:14379416..14381139-chr9:14386208..14387790,2	MCF-7	breast:
8	chr9:14399946..14402749-chr9:14405423..14407505,3	K562	blood:
9	chr9:14371285..14374107-chr9:14389472..14391739,2	MCF-7	breast:
10	chr9:14399946..14402059-chr9:14405423..14407406,2	K562	blood:
11	chr9:14401730..14403853-chr9:14406979..14409874,2	MCF-7	breast:
12	chr9:14399946..14402059-chr9:14405423..14407406,2	K562	blood:
13	chr9:13427228..13428183-chr9:14400701..14401241,2	MCF-7	breast:
14	chr9:13033929..13034651-chr9:14400323..14400953,2	MCF-7	breast:
15	chr9:14314653..14317255-chr9:14398408..14400956,2	MCF-7	breast:
16	chr9:13427036..13429704-chr9:14394082..14395799,2	MCF-7	breast:
17	chr9:14388626..14390551-chr9:14394055..14396040,2	K562	blood:
18	chr9:14314050..14315660-chr9:14398381..14400097,2	K562	blood:
19	chr9:14387379..14389849-chr9:14391400..14393635,3	K562	blood:
20	chr9:14388626..14390551-chr9:14394055..14396040,2	K562	blood:
21	chr9:14390603..14393178-chr9:14394625..14396698,2	K562	blood:
22	chr9:14390603..14393178-chr9:14394625..14396698,2	K562	blood:
23	chr9:13427282..13428061-chr9:14400336..14400995,3	MCF-7	breast:
24	chr9:14399946..14402749-chr9:14405423..14407505,3	K562	blood:

Variant related genes	Relation type
NFIB	TF binding region
ENSG00000147862	chromatin interactions
ENSG00000225472	chromatin interactions

Extended variants
information (count: 1121 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1121 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568008	chr9:14380528-14380529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs632689	chr9:14380566-14380567	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140304224	chr9:14380590-14380591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557769141	chr9:14380597-14380598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144254914	chr9:14380605-14380606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16931644	chr9:14380609-14380610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563234311	chr9:14380622-14380623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74630471	chr9:14380654-14380655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569050	chr9:14380658-14380659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561965499	chr9:14380659-14380660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527744881	chr9:14380719-14380720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547514798	chr9:14380721-14380722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564320935	chr9:14380723-14380724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35051189	chr9:14380729-14380730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113994922	chr9:14380806-14380807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549917543	chr9:14380836-14380837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12235438	chr9:14380843-14380844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529197345	chr9:14380848-14380849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187342615	chr9:14380852-14380853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374790758	chr9:14380862-14380863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565914596	chr9:14380863-14380864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191922615	chr9:14380877-14380878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57498345	chr9:14380878-14380879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185252615	chr9:14380920-14380921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367704284	chr9:14380925-14380926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537009484	chr9:14380932-14380933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549961749	chr9:14380943-14380944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs630973	chr9:14380945-14380946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576647021	chr9:14380997-14380998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542132951	chr9:14380998-14380999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10961495	chr9:14381015-14381016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555520740	chr9:14381022-14381023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572352995	chr9:14381025-14381026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541118226	chr9:14381027-14381028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7045697	chr9:14381029-14381030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533272033	chr9:14381060-14381061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543774619	chr9:14381067-14381068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76675800	chr9:14381072-14381073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569398967	chr9:14381073-14381074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59600031	chr9:14381095-14381096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557790622	chr9:14381162-14381163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149182334	chr9:14381207-14381208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549323909	chr9:14381224-14381225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565876585	chr9:14381230-14381231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs731691	chr9:14381255-14381256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189703536	chr9:14381269-14381270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548787806	chr9:14381284-14381285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571273092	chr9:14381288-14381289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370033278	chr9:14381390-14381391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536768715	chr9:14381422-14381423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14366200-14391600	Weak transcription	Aorta	Aorta
2	chr9:14373800-14383800	Weak transcription	Psoas Muscle	Psoas
3	chr9:14379800-14383800	Weak transcription	Left Ventricle	heart
4	chr9:14380000-14381000	Enhancers	HUVEC	blood vessel
5	chr9:14380200-14380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:14380200-14381000	Enhancers	Primary hematopoietic stem cells	blood
7	chr9:14380400-14380600	Enhancers	Fetal Lung	lung
8	chr9:14380400-14380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:14380600-14380800	Enhancers	Fetal Muscle Leg	muscle
10	chr9:14380600-14383000	Weak transcription	Fetal Lung	lung
11	chr9:14380800-14382400	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:14380800-14383200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:14380800-14383200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:14381000-14383200	Weak transcription	HUVEC	blood vessel
15	chr9:14381000-14384000	Weak transcription	K562	blood
16	chr9:14382400-14382600	Enhancers	Fetal Muscle Leg	muscle
17	chr9:14382400-14384000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:14382400-14384800	Enhancers	Fetal Heart	heart
19	chr9:14382600-14383400	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:14382600-14383600	Enhancers	Fetal Brain Female	brain
21	chr9:14382600-14384000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:14382800-14384000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:14382800-14384200	Enhancers	Primary hematopoietic stem cells	blood
24	chr9:14382800-14384200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:14383000-14383800	Enhancers	Fetal Lung	lung
26	chr9:14383200-14383600	Enhancers	Brain Hippocampus Middle	brain
27	chr9:14383200-14383600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:14383200-14383600	Enhancers	HUVEC	blood vessel
29	chr9:14383200-14384200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:14383200-14384200	Enhancers	Fetal Brain Male	brain
31	chr9:14383200-14384400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:14383400-14384000	Enhancers	Brain Germinal Matrix	brain
33	chr9:14383400-14384200	Enhancers	Fetal Muscle Leg	muscle
34	chr9:14383600-14384000	Flanking Active TSS	Fetal Brain Female	brain
35	chr9:14383600-14384200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr9:14383600-14391600	Weak transcription	HUVEC	blood vessel
37	chr9:14383800-14384000	Enhancers	Psoas Muscle	Psoas
38	chr9:14383800-14384000	Enhancers	GM12878-XiMat	blood
39	chr9:14383800-14384200	Enhancers	Left Ventricle	heart
40	chr9:14384000-14384200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:14384000-14384400	Enhancers	Right Ventricle	heart
42	chr9:14384000-14385000	Weak transcription	Psoas Muscle	Psoas
43	chr9:14384000-14385400	Enhancers	K562	blood
44	chr9:14384200-14384600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:14384200-14384800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr9:14384200-14395400	Weak transcription	Left Ventricle	heart
47	chr9:14384600-14385000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr9:14384800-14385000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:14384800-14386400	Weak transcription	Fetal Heart	heart
50	chr9:14385000-14385200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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