Variant report

Variant	nsv892245
Chromosome Location	chr9:8916449-8937478
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	chr9:8926157-8926470	IMR90	lung:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
2	CEBPB	chr9:8926156-8926446	HepG2	liver:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
3	CTCF	chr9:8918480-8918630	HepG2	liver:	n/a	n/a
4	CTCF	chr9:8918420-8918570	HEK293	kidney:	n/a	n/a
5	CTCF	chr9:8919660-8919810	AG04449	skin:	n/a	n/a
6	CTCF	chr9:8918420-8918570	RPTEC	kidney:	n/a	n/a
7	CTCF	chr9:8918478-8918573	HepG2	liver:	n/a	n/a
8	FOS	chr9:8924604-8925118	MCF10A-Er-Src	breast:	n/a	chr9:8924767-8924778 chr9:8924768-8924776 chr9:8924766-8924778 chr9:8924766-8924773
9	FOS	chr9:8924605-8924901	MCF10A-Er-Src	breast:	n/a	chr9:8924767-8924778 chr9:8924768-8924776 chr9:8924766-8924778 chr9:8924766-8924773
10	FOS	chr9:8923674-8924056	MCF10A-Er-Src	breast:	n/a	chr9:8923846-8923853 chr9:8923844-8923853
11	FOS	chr9:8923693-8923902	MCF10A-Er-Src	breast:	n/a	chr9:8923846-8923853 chr9:8923844-8923853
12	FOS	chr9:8924604-8924901	MCF10A-Er-Src	breast:	n/a	chr9:8924767-8924778 chr9:8924768-8924776 chr9:8924766-8924778 chr9:8924766-8924773
13	FOS	chr9:8923660-8924001	MCF10A-Er-Src	breast:	n/a	chr9:8923846-8923853 chr9:8923844-8923853
14	FOS	chr9:8923688-8923899	MCF10A-Er-Src	breast:	n/a	chr9:8923846-8923853 chr9:8923844-8923853
15	FOSL2	chr9:8923670-8923912	HepG2	liver:	n/a	chr9:8923846-8923853 chr9:8923844-8923853
16	FOXA1	chr9:8932386-8932868	HepG2	liver:	n/a	n/a
17	FOXA2	chr9:8932424-8932905	A549	lung:	n/a	n/a
18	JUN	chr9:8925967-8926200	HepG2	liver:	n/a	n/a
19	JUN	chr9:8919542-8919756	K562	blood:	n/a	n/a
20	JUND	chr9:8925913-8926211	HepG2	liver:	n/a	n/a
21	MAX	chr9:8923742-8923931	NB4	blood:	n/a	chr9:8923779-8923789
22	MYC	chr9:8923625-8923961	MCF10A-Er-Src	breast:	n/a	chr9:8923779-8923789 chr9:8923741-8923751
23	MYC	chr9:8919669-8919869	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr9:8923652-8923852	MCF10A-Er-Src	breast:	n/a	chr9:8923779-8923789 chr9:8923741-8923751
25	PAX5	chr9:8919636-8919867	GM12878	blood:	n/a	n/a
26	PAX5	chr9:8919585-8919870	GM12878	blood:	n/a	n/a
27	PAX5	chr9:8919639-8919782	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:8933128-8933140	MCF-7	breast:	n/a	n/a
29	POLR2A	chr9:8933043-8933121	MCF-7	breast:	n/a	n/a
30	POLR2A	chr9:8919691-8919724	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr9:8926488-8926679	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr9:8924573-8924802	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr9:8923782-8923895	MCF10A-Er-Src	breast:	n/a	n/a
34	SUZ12	chr9:8919685-8920019	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF2	chr9:8917837-8917925	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-9	chr9:8936079-8936179	ENSG00000234021

Variant related genes	Relation type
ENSG00000234021	TF binding region

Extended variants
information (count: 351 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10046838	chr9:8916449-8916450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115474938	chr9:8916529-8916530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184701123	chr9:8916545-8916546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550969192	chr9:8916596-8916597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569294605	chr9:8916603-8916604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79416228	chr9:8916607-8916608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548711446	chr9:8916642-8916643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561404025	chr9:8916646-8916647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566927770	chr9:8916682-8916683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534287698	chr9:8916692-8916693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189063412	chr9:8916744-8916745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181447550	chr9:8916756-8916757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538169888	chr9:8916804-8916805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556157861	chr9:8916808-8916809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574102566	chr9:8916852-8916853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541377665	chr9:8916871-8916872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559714193	chr9:8916882-8916883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185741620	chr9:8916888-8916889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147103040	chr9:8916904-8916905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528591337	chr9:8916906-8916907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565500524	chr9:8916925-8916926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191308722	chr9:8916927-8916928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556115215	chr9:8916960-8916961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576171735	chr9:8916975-8916976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202033253	chr9:8917054-8917055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573630592	chr9:8917055-8917056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541801261	chr9:8917058-8917059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61077928	chr9:8917070-8917071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530122496	chr9:8917072-8917073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561646035	chr9:8917103-8917104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542752335	chr9:8917115-8917116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559048705	chr9:8917133-8917134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201814682	chr9:8917135-8917136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371386589	chr9:8917136-8917137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201360519	chr9:8917137-8917138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34621501	chr9:8917149-8917150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10977359	chr9:8917151-8917152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574496600	chr9:8917171-8917172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137923605	chr9:8917174-8917175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143390188	chr9:8917182-8917183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552369545	chr9:8917197-8917198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570648882	chr9:8917202-8917203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565568185	chr9:8917253-8917254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537601797	chr9:8917260-8917261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560229058	chr9:8917276-8917277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574439457	chr9:8917278-8917279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180976235	chr9:8917282-8917283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35338026	chr9:8917284-8917285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553382989	chr9:8917290-8917291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79698622	chr9:8917293-8917294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8913800-8916800	Enhancers	Brain Angular Gyrus	brain
2	chr9:8913800-8916800	Enhancers	Brain Substantia Nigra	brain
3	chr9:8913800-8918400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr9:8914800-8916800	Enhancers	Brain Hippocampus Middle	brain
5	chr9:8915600-8918200	Enhancers	Brain Cingulate Gyrus	brain
6	chr9:8916400-8916800	Enhancers	Brain Anterior Caudate	brain
7	chr9:8916800-8917200	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:8916800-8917800	Weak transcription	Brain Anterior Caudate	brain
9	chr9:8916800-8917800	Weak transcription	Brain Substantia Nigra	brain
10	chr9:8916800-8918200	Weak transcription	Brain Angular Gyrus	brain
11	chr9:8917000-8918800	Enhancers	Dnd41	blood
12	chr9:8917200-8918400	Enhancers	Brain Hippocampus Middle	brain
13	chr9:8917200-8918400	Enhancers	Fetal Thymus	thymus
14	chr9:8917600-8918200	Enhancers	Primary T cells from cord blood	blood
15	chr9:8917800-8918200	Enhancers	Brain Anterior Caudate	brain
16	chr9:8917800-8918200	Enhancers	Brain Substantia Nigra	brain
17	chr9:8918000-8918200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:8918200-8918400	Enhancers	Brain Angular Gyrus	brain
19	chr9:8923400-8924800	Enhancers	Osteobl	bone
20	chr9:8923600-8924800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:8923600-8925200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:8923800-8925200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:8933400-8934200	Enhancers	Fetal Heart	heart
24	chr9:8937000-8939000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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