Variant report

Variant	nsv613299
Chromosome Location	chr9:8903857-9032105
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	chr9:8961022-8961768	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:8961130-8961628	HepG2	liver:	n/a	n/a
3	BRCA1	chr9:8961431-8961631	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:8990081-8990286	A549	lung:	n/a	chr9:8990232-8990245 chr9:8990232-8990243
5	CEBPB	chr9:8910651-8910799	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr9:8961081-8961810	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:8926157-8926470	IMR90	lung:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
8	CEBPB	chr9:8945985-8946238	HepG2	liver:	n/a	chr9:8946106-8946117
9	CEBPB	chr9:9010715-9011060	HepG2	liver:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
10	CEBPB	chr9:8961188-8961617	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:8910663-8910909	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:9014242-9014411	IMR90	lung:	n/a	n/a
13	CEBPB	chr9:9014250-9014489	HepG2	liver:	n/a	n/a
14	CEBPB	chr9:8996279-8996542	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:9010741-9010996	A549	lung:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
16	CEBPB	chr9:8990176-8990287	H1-hESC	embryonic stem cell:	n/a	chr9:8990232-8990245 chr9:8990232-8990243
17	CEBPB	chr9:8926156-8926446	HepG2	liver:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
18	CEBPB	chr9:8910638-8910923	IMR90	lung:	n/a	n/a
19	CEBPB	chr9:8990077-8990402	HepG2	liver:	n/a	chr9:8990232-8990245 chr9:8990232-8990243
20	CEBPB	chr9:8987639-8987844	H1-hESC	embryonic stem cell:	n/a	chr9:8987749-8987758 chr9:8987747-8987758 chr9:8987747-8987760
21	CEBPB	chr9:9010710-9011045	IMR90	lung:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
22	CEBPB	chr9:8961184-8961759	HepG2	liver:	n/a	n/a
23	CEBPB	chr9:8961294-8961477	HepG2	liver:	n/a	n/a
24	CEBPB	chr9:9010826-9010992	K562	blood:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
25	CEBPB	chr9:9010854-9010971	H1-hESC	embryonic stem cell:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
26	CEBPB	chr9:8946121-8946175	A549	lung:	n/a	n/a
27	CEBPB	chr9:9006505-9006741	HepG2	liver:	n/a	n/a
28	CEBPB	chr9:8992944-8993144	HepG2	liver:	n/a	n/a
29	CEBPZ	chr9:8999135-8999217	HepG2	liver:	n/a	n/a
30	CHD2	chr9:8937553-8937554	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:9004760-9004910	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr9:9004980-9005130	HMF	breast:	n/a	chr9:9005052-9005060
33	CTCF	chr9:9004960-9005110	HEK293	kidney:	n/a	chr9:9005052-9005060
34	CTCF	chr9:8978496-8978614	HepG2	liver:	n/a	n/a
35	CTCF	chr9:9003296-9003450	HepG2	liver:	n/a	chr9:9003381-9003394 chr9:9003374-9003395 chr9:9003379-9003397
36	CTCF	chr9:9005180-9005330	HFF	foreskin:	n/a	n/a
37	CTCF	chr9:8918420-8918570	RPTEC	kidney:	n/a	n/a
38	CTCF	chr9:9016100-9016250	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr9:8978440-8978590	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr9:9003340-9003490	HPAF	blood vessel:	n/a	chr9:9003381-9003394 chr9:9003374-9003395 chr9:9003379-9003397
41	CTCF	chr9:9003320-9003470	AG09319	gingival:	n/a	chr9:9003381-9003394 chr9:9003374-9003395 chr9:9003379-9003397
42	CTCF	chr9:8978460-8978610	GM12873	blood:	n/a	n/a
43	CTCF	chr9:8978360-8978510	GM12872	blood:	n/a	n/a
44	CTCF	chr9:9004900-9005050	HCM	heart:	n/a	n/a
45	CTCF	chr9:9005016-9005086	Gliobla	brain:	n/a	chr9:9005052-9005060
46	CTCF	chr9:8978481-8978552	Medullo	brain:	n/a	n/a
47	CTCF	chr9:8978440-8978590	SAEC	small airway:	n/a	n/a
48	CTCF	chr9:8978460-8978610	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr9:8978460-8978610	HEK293	kidney:	n/a	n/a
50	CTCF	chr9:9004840-9004990	RPTEC	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-9	chr9:8962800-8963077	ENSG00000234021
2	lnc-KDM4C-9	chr9:8936079-8936179	ENSG00000234021
3	lnc-KDM4C-9	chr9:8958722-8958848	ENSG00000234021
4	lnc-KDM4C-9	chr9:8962124-8962189	ENSG00000234021

Variant related genes	Relation type
ENSG00000234021	TF binding region

Extended variants
information (count: 2476 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2476 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1019955	chr9:8903857-8903858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533157054	chr9:8903869-8903870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551486226	chr9:8903915-8903916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72555668	chr9:8903935-8903936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7032026	chr9:8903936-8903937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114081420	chr9:8903943-8903944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7856478	chr9:8903950-8903951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180996895	chr9:8903998-8903999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572544282	chr9:8904035-8904036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185870016	chr9:8904071-8904072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139832317	chr9:8904100-8904101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577598455	chr9:8904125-8904126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192441976	chr9:8904149-8904150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557110170	chr9:8904181-8904182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34958914	chr9:8904188-8904189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13287276	chr9:8904256-8904257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183209014	chr9:8904260-8904261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187532236	chr9:8904291-8904292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550560220	chr9:8904296-8904297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574140613	chr9:8904312-8904313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190532846	chr9:8904418-8904419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559773915	chr9:8904430-8904431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533543447	chr9:8904459-8904460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533382899	chr9:8904509-8904510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143910292	chr9:8904523-8904524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2016766	chr9:8904541-8904542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530959589	chr9:8904542-8904543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182759401	chr9:8904565-8904566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567488777	chr9:8904585-8904586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61618103	chr9:8904596-8904597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188347326	chr9:8904641-8904642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528892517	chr9:8904644-8904645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35709712	chr9:8904668-8904669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397893323	chr9:8904684-8904685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192636735	chr9:8904710-8904711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184607261	chr9:8904726-8904727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568865923	chr9:8904740-8904741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565461499	chr9:8904757-8904758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149297555	chr9:8904776-8904777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374006859	chr9:8904778-8904779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375969294	chr9:8904832-8904833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187557226	chr9:8904865-8904866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551049465	chr9:8904879-8904880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554349340	chr9:8904881-8904882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10977349	chr9:8904941-8904942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541238238	chr9:8904942-8904943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144966722	chr9:8904972-8904973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116435722	chr9:8905009-8905010	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537239232	chr9:8905028-8905029	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149056870	chr9:8905060-8905061	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8900600-8905400	Weak transcription	Fetal Brain Male	brain
2	chr9:8902000-8905000	Weak transcription	Fetal Lung	lung
3	chr9:8902400-8905000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:8904400-8905600	Enhancers	Fetal Stomach	stomach
5	chr9:8905000-8905200	Active TSS	Fetal Lung	lung
6	chr9:8905000-8906000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:8905200-8905400	Flanking Active TSS	Fetal Lung	lung
8	chr9:8905400-8905800	Enhancers	Fetal Brain Male	brain
9	chr9:8905400-8906600	Weak transcription	Aorta	Aorta
10	chr9:8905400-8906600	Enhancers	Fetal Lung	lung
11	chr9:8906600-8906800	ZNF genes & repeats	Aorta	Aorta
12	chr9:8907800-8908200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:8907800-8908400	Enhancers	Dnd41	blood
14	chr9:8907800-8908600	Enhancers	HUVEC	blood vessel
15	chr9:8913800-8916800	Enhancers	Brain Angular Gyrus	brain
16	chr9:8913800-8916800	Enhancers	Brain Substantia Nigra	brain
17	chr9:8913800-8918400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:8914400-8914600	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:8914600-8915600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:8914800-8916800	Enhancers	Brain Hippocampus Middle	brain
21	chr9:8915200-8915400	Enhancers	Brain Anterior Caudate	brain
22	chr9:8915400-8916400	Weak transcription	Brain Anterior Caudate	brain
23	chr9:8915600-8918200	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:8916400-8916800	Enhancers	Brain Anterior Caudate	brain
25	chr9:8916800-8917200	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:8916800-8917800	Weak transcription	Brain Anterior Caudate	brain
27	chr9:8916800-8917800	Weak transcription	Brain Substantia Nigra	brain
28	chr9:8916800-8918200	Weak transcription	Brain Angular Gyrus	brain
29	chr9:8917000-8918800	Enhancers	Dnd41	blood
30	chr9:8917200-8918400	Enhancers	Brain Hippocampus Middle	brain
31	chr9:8917200-8918400	Enhancers	Fetal Thymus	thymus
32	chr9:8917600-8918200	Enhancers	Primary T cells from cord blood	blood
33	chr9:8917800-8918200	Enhancers	Brain Anterior Caudate	brain
34	chr9:8917800-8918200	Enhancers	Brain Substantia Nigra	brain
35	chr9:8918000-8918200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:8918200-8918400	Enhancers	Brain Angular Gyrus	brain
37	chr9:8923400-8924800	Enhancers	Osteobl	bone
38	chr9:8923600-8924800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:8923600-8925200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:8923800-8925200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:8933400-8934200	Enhancers	Fetal Heart	heart
42	chr9:8937000-8939000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:8938600-8939000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:8938600-8939000	Enhancers	Brain Germinal Matrix	brain
45	chr9:8938600-8939000	Enhancers	Brain Hippocampus Middle	brain
46	chr9:8946200-8946800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:8946200-8947000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:8946400-8947000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:8946400-8947000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:8947000-8950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links