Variant report

Variant	esv2829906
Chromosome Location	chr9:9737201-9897866
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	chr9:9752784-9753086	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:9790306-9790512	HepG2	liver:	n/a	n/a
3	BHLHE40	chr9:9790315-9790593	GM12878	blood:	n/a	n/a
4	BHLHE40	chr9:9847834-9848021	GM12878	blood:	n/a	n/a
5	BRCA1	chr9:9790311-9790476	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:9831744-9832058	HepG2	liver:	n/a	chr9:9831888-9831899
7	CEBPB	chr9:9781774-9781789	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr9:9860120-9860628	IMR90	lung:	n/a	chr9:9860493-9860504 chr9:9860133-9860145 chr9:9860492-9860503 chr9:9860492-9860505
9	CEBPB	chr9:9752779-9753043	HepG2	liver:	n/a	chr9:9752948-9752959 chr9:9752948-9752959 chr9:9752837-9752849
10	CEBPB	chr9:9750792-9751088	ECC-1	luminal epithelium:	n/a	chr9:9750940-9750951
11	CEBPB	chr9:9750781-9751123	IMR90	lung:	n/a	chr9:9750940-9750951
12	CEBPB	chr9:9831774-9832068	IMR90	lung:	n/a	chr9:9831888-9831899
13	CEBPB	chr9:9863586-9863715	A549	lung:	n/a	n/a
14	CEBPB	chr9:9754428-9754673	A549	lung:	n/a	chr9:9754580-9754589 chr9:9754578-9754591 chr9:9754580-9754591
15	CEBPB	chr9:9860376-9860648	A549	lung:	n/a	chr9:9860493-9860504 chr9:9860492-9860503 chr9:9860492-9860505
16	CEBPB	chr9:9750778-9751121	HepG2	liver:	n/a	chr9:9750940-9750951
17	CEBPB	chr9:9750771-9751082	A549	lung:	n/a	chr9:9750940-9750951
18	CEBPB	chr9:9750805-9751120	H1-hESC	embryonic stem cell:	n/a	chr9:9750940-9750951
19	CEBPB	chr9:9860177-9860680	HepG2	liver:	n/a	chr9:9860493-9860504 chr9:9860492-9860503 chr9:9860492-9860505
20	CEBPB	chr9:9878262-9878354	A549	lung:	n/a	n/a
21	CEBPB	chr9:9831770-9832132	A549	lung:	n/a	chr9:9831888-9831899
22	CEBPB	chr9:9824877-9825036	HepG2	liver:	n/a	chr9:9824982-9824993
23	CHD2	chr9:9757890-9758032	HepG2	liver:	n/a	n/a
24	CTCF	chr9:9897160-9897310	GM12873	blood:	n/a	chr9:9897175-9897184
25	CTCF	chr9:9791780-9791930	HCPEpiC	choroid plexus:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
26	CTCF	chr9:9791760-9791910	GM06990	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
27	CTCF	chr9:9790360-9790510	NHLF	lung:	n/a	chr9:9790450-9790458
28	CTCF	chr9:9897140-9897290	GM12864	blood:	n/a	chr9:9897175-9897184
29	CTCF	chr9:9897040-9897190	HCFaa	heart:	n/a	chr9:9897175-9897184
30	CTCF	chr9:9897040-9897190	HCPEpiC	choroid plexus:	n/a	chr9:9897175-9897184
31	CTCF	chr9:9790380-9790530	HCFaa	heart:	n/a	chr9:9790450-9790458
32	CTCF	chr9:9897120-9897270	GM12875	blood:	n/a	chr9:9897175-9897184
33	CTCF	chr9:9897140-9897290	MCF-7	breast:	n/a	chr9:9897175-9897184
34	CTCF	chr9:9791780-9791930	HMF	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
35	CTCF	chr9:9791760-9791910	AG09319	gingival:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
36	CTCF	chr9:9790323-9790494	A549	lung:	n/a	chr9:9790450-9790458
37	CTCF	chr9:9897140-9897290	GM12872	blood:	n/a	chr9:9897175-9897184
38	CTCF	chr9:9790380-9790530	GM06990	blood:	n/a	chr9:9790450-9790458
39	CTCF	chr9:9896980-9897130	A549	lung:	n/a	n/a
40	CTCF	chr9:9790360-9790510	HUVEC	blood vessel:	n/a	chr9:9790450-9790458
41	CTCF	chr9:9790330-9790461	GM19238	blood:	n/a	chr9:9790450-9790458
42	CTCF	chr9:9897120-9897270	GM12874	blood:	n/a	chr9:9897175-9897184
43	CTCF	chr9:9897055-9897237	SK-N-SH_RA	brain:	n/a	chr9:9897175-9897184
44	CTCF	chr9:9897100-9897250	GM12801	blood:	n/a	chr9:9897175-9897184
45	CTCF	chr9:9897100-9897250	HMF	breast:	n/a	chr9:9897175-9897184
46	CTCF	chr9:9897120-9897270	HRE	kidney:	n/a	chr9:9897175-9897184
47	CTCF	chr9:9791736-9792014	MCF-7	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
48	CTCF	chr9:9790380-9790530	HMF	breast:	n/a	chr9:9790450-9790458
49	CTCF	chr9:9790337-9790583	Pancreas_OC	pancreas:	n/a	chr9:9790450-9790458
50	CTCF	chr9:9897080-9897230	WERI-Rb-1	eye:	n/a	chr9:9897175-9897184

No.	Distal block	Cell Line	Cell type
1	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:
2	chr9:9606507..9607603-chr9:9789935..9790958,7	MCF-7	breast:
3	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:
4	chr9:9606480..9607195-chr9:9789919..9790916,3	MCF-7	breast:
5	chr9:9606153..9607209-chr9:9791346..9792141,4	MCF-7	breast:
6	chr9:9606591..9607143-chr9:9791328..9791942,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-10	chr9:9803717-9803784	ENSG00000230920
2	lnc-KDM4C-10	chr9:9799423-9799608	ENSG00000230920
3	lnc-KDM4C-10	chr9:9800546-9800674	ENSG00000230920

Variant related genes	Relation type
ENSG00000230920	TF binding region

Extended variants
information (count: 4867 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:4867 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573853805	chr9:9745213-9745214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147828288	chr9:9745238-9745239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541277133	chr9:9745240-9745241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200876666	chr9:9745246-9745247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552773216	chr9:9745291-9745292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577397295	chr9:9745303-9745304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116512077	chr9:9745310-9745311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115490724	chr9:9745312-9745313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530471582	chr9:9745316-9745317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2761700	chr9:9745380-9745381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557971251	chr9:9745396-9745397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560900303	chr9:9745482-9745483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576911067	chr9:9745502-9745503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150080623	chr9:9745512-9745513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2761701	chr9:9745530-9745531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566305325	chr9:9745546-9745547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541585644	chr9:9745581-9745582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533549762	chr9:9745586-9745587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551944038	chr9:9745591-9745592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138369651	chr9:9745674-9745675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531612393	chr9:9745697-9745698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537504447	chr9:9745710-9745711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368672556	chr9:9745719-9745720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555484404	chr9:9745724-9745725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190044673	chr9:9745739-9745740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534642365	chr9:9745740-9745741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182273951	chr9:9745748-9745749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149255483	chr9:9745752-9745753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544800809	chr9:9745765-9745766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79924261	chr9:9745769-9745770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575253549	chr9:9745814-9745815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542469801	chr9:9745828-9745829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148060881	chr9:9745836-9745837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572776053	chr9:9745856-9745857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369287479	chr9:9745860-9745861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541778618	chr9:9745873-9745874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560078323	chr9:9745889-9745890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4742615	chr9:9745901-9745902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552005154	chr9:9745904-9745905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187106781	chr9:9745973-9745974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190800785	chr9:9745974-9745975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372343144	chr9:9745980-9745981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549437840	chr9:9745990-9745991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528037602	chr9:9745993-9745994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180871441	chr9:9746000-9746001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547667947	chr9:9746007-9746008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546539445	chr9:9746009-9746010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185331004	chr9:9746032-9746033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571212501	chr9:9746040-9746041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74788391	chr9:9746043-9746044	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Glioblastoma multiforme	21080181	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
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
Myelofibrosis	22110671	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
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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Schizophrenia	23813976	CNVD
Nasopharyngeal cancer	20548289	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9745200-9750800	Enhancers	HUVEC	blood vessel
2	chr9:9747800-9748600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr9:9748600-9752600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:9749600-9751000	Enhancers	Fetal Kidney	kidney
5	chr9:9750600-9751200	Enhancers	Liver	Liver
6	chr9:9751200-9751400	Flanking Active TSS	Liver	Liver
7	chr9:9751400-9751600	Enhancers	Liver	Liver
8	chr9:9751600-9751800	Flanking Active TSS	Liver	Liver
9	chr9:9751800-9753600	Enhancers	Liver	Liver
10	chr9:9752200-9754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:9752200-9754800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:9752400-9752800	Enhancers	Rectal Smooth Muscle	rectum
13	chr9:9752400-9753600	Enhancers	HepG2	liver
14	chr9:9752600-9753400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:9752600-9754000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:9752800-9753400	Enhancers	Adipose Nuclei	Adipose
17	chr9:9752800-9753400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr9:9752800-9753600	Enhancers	Brain Hippocampus Middle	brain
19	chr9:9753400-9754400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:9754200-9754600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:9754200-9755200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:9754400-9754600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:9754400-9755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:9756000-9756600	Enhancers	Fetal Heart	heart
25	chr9:9764800-9765000	Enhancers	Aorta	Aorta
26	chr9:9765000-9778800	Weak transcription	Aorta	Aorta
27	chr9:9775400-9776200	Enhancers	HUVEC	blood vessel
28	chr9:9776200-9776600	Flanking Active TSS	HUVEC	blood vessel
29	chr9:9776200-9776800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:9776600-9779000	Enhancers	HUVEC	blood vessel
31	chr9:9778400-9778800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:9778400-9778800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:9779000-9782000	Weak transcription	HUVEC	blood vessel
34	chr9:9779400-9780000	Enhancers	NH-A	brain
35	chr9:9782000-9784000	Enhancers	HUVEC	blood vessel
36	chr9:9782600-9784000	Enhancers	Brain Angular Gyrus	brain
37	chr9:9782800-9783400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:9783400-9783800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:9783600-9784000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:9783800-9784600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:9784600-9786000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr9:9786000-9786200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr9:9789200-9789400	Enhancers	Liver	Liver
44	chr9:9790000-9790400	Enhancers	Dnd41	blood
45	chr9:9790200-9790400	Enhancers	Liver	Liver
46	chr9:9791400-9793000	Enhancers	Primary B cells from cord blood	blood
47	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells	blood
48	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:9792200-9792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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