Variant report

Variant	esv2752286
Chromosome Location	chr9:15578017-15794897
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	chr9:15642421-15642732	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:15606729-15607013	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:15738069-15738699	HepG2	liver:	n/a	n/a
4	ATF1	chr9:15606159-15606277	K562	blood:	n/a	n/a
5	ATF3	chr9:15587162-15587411	K562	blood:	n/a	n/a
6	BACH1	chr9:15712591-15712742	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr9:15722850-15723205	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr9:15724284-15724315	K562	blood:	n/a	n/a
9	BATF	chr9:15613003-15613305	GM12878	blood:	n/a	chr9:15613158-15613169
10	BATF	chr9:15612994-15613254	GM12878	blood:	n/a	chr9:15613158-15613169
11	CEBPB	chr9:15587156-15587411	K562	blood:	n/a	chr9:15587301-15587312
12	CEBPB	chr9:15724070-15724406	Hela-S3	cervix:	n/a	chr9:15724219-15724230 chr9:15724219-15724230
13	CEBPB	chr9:15741109-15741261	HepG2	liver:	n/a	chr9:15741201-15741212
14	CEBPB	chr9:15587130-15587433	IMR90	lung:	n/a	chr9:15587301-15587312
15	CEBPB	chr9:15697348-15697947	IMR90	lung:	n/a	n/a
16	CEBPB	chr9:15735009-15735843	A549	lung:	n/a	chr9:15735616-15735627
17	CEBPB	chr9:15741024-15741393	HepG2	liver:	n/a	chr9:15741201-15741212
18	CEBPB	chr9:15741051-15741354	A549	lung:	n/a	chr9:15741201-15741212
19	CEBPB	chr9:15616839-15617368	HepG2	liver:	n/a	chr9:15617185-15617196
20	CEBPB	chr9:15634699-15634857	A549	lung:	n/a	chr9:15634719-15634730
21	CEBPB	chr9:15735056-15735385	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr9:15735042-15735513	MCF-7	breast:	n/a	n/a
23	CEBPB	chr9:15587167-15587391	HepG2	liver:	n/a	chr9:15587301-15587312
24	CEBPB	chr9:15734342-15734549	IMR90	lung:	n/a	n/a
25	CEBPB	chr9:15634650-15635051	HepG2	liver:	n/a	chr9:15634719-15634730
26	CEBPB	chr9:15755596-15756068	IMR90	lung:	n/a	n/a
27	CEBPB	chr9:15735107-15735781	A549	lung:	n/a	chr9:15735616-15735627
28	CEBPB	chr9:15734335-15734526	A549	lung:	n/a	n/a
29	CEBPB	chr9:15741023-15741380	IMR90	lung:	n/a	chr9:15741201-15741212
30	CEBPB	chr9:15735000-15735439	MCF-7	breast:	n/a	n/a
31	CEBPB	chr9:15730990-15731258	A549	lung:	n/a	chr9:15731094-15731105
32	CEBPB	chr9:15578740-15579055	IMR90	lung:	n/a	n/a
33	CEBPB	chr9:15735040-15735683	ECC-1	luminal epithelium:	n/a	chr9:15735616-15735627
34	CEBPB	chr9:15741073-15741357	Hela-S3	cervix:	n/a	chr9:15741201-15741212
35	CEBPB	chr9:15730933-15731218	HepG2	liver:	n/a	chr9:15731094-15731105
36	CEBPB	chr9:15730933-15731271	IMR90	lung:	n/a	chr9:15731094-15731105
37	CEBPB	chr9:15741050-15741339	H1-hESC	embryonic stem cell:	n/a	chr9:15741201-15741212
38	CEBPB	chr9:15741125-15741305	K562	blood:	n/a	chr9:15741201-15741212
39	CEBPB	chr9:15714960-15715003	A549	lung:	n/a	n/a
40	CEBPB	chr9:15735045-15735794	IMR90	lung:	n/a	chr9:15735616-15735627
41	CEBPB	chr9:15634610-15635086	IMR90	lung:	n/a	chr9:15634719-15634730
42	CEBPB	chr9:15755700-15755790	HepG2	liver:	n/a	n/a
43	CEBPB	chr9:15734822-15735983	Hela-S3	cervix:	n/a	chr9:15735616-15735627
44	CEBPB	chr9:15696978-15698055	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr9:15613014-15613393	GM12878	blood:	n/a	n/a
46	CREB1	chr9:15612874-15613444	GM12878	blood:	n/a	n/a
47	CTCF	chr9:15606780-15606930	GM12801	blood:	n/a	chr9:15606835-15606851 chr9:15606834-15606852 chr9:15606839-15606847 chr9:15606836-15606849 chr9:15606829-15606850
48	CTCF	chr9:15620480-15620630	GM12872	blood:	n/a	n/a
49	CTCF	chr9:15642480-15642630	BJ	skin:	n/a	chr9:15642533-15642551 chr9:15642528-15642549 chr9:15642535-15642548
50	CTCF	chr9:15622680-15622830	GM12866	blood:	n/a	chr9:15622788-15622796 chr9:15622783-15622801 chr9:15622778-15622799

No.	Distal block	Cell Line	Cell type
1	chr9:15609722..15611520-chr9:15613088..15614614,2	MCF-7	breast:
2	chr9:15421567..15424446-chr9:15606338..15608598,2	MCF-7	breast:
3	chr9:15778842..15781676-chr9:15783903..15785972,2	MCF-7	breast:
4	chr9:15609722..15611520-chr9:15613088..15614614,2	MCF-7	breast:
5	chr9:15690406..15691946-chr9:15692582..15695063,2	MCF-7	breast:
6	chr9:15732005..15734234-chr9:15736903..15738825,2	K562	blood:
7	chr9:15510294..15512690-chr9:15720146..15721868,2	MCF-7	breast:
8	chr9:15690406..15691946-chr9:15692582..15695063,2	MCF-7	breast:
9	chr9:15551936..15552629-chr9:15619996..15620642,2	MCF-7	breast:
10	chr9:15551543..15553297-chr9:15600119..15601625,2	MCF-7	breast:
11	chr9:15509144..15511285-chr9:15608383..15610950,2	MCF-7	breast:
12	chr9:15732005..15734234-chr9:15736903..15738825,2	K562	blood:
13	chr9:15778842..15781676-chr9:15783903..15785972,2	MCF-7	breast:
14	chr9:15551939..15552527-chr9:15606365..15606962,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNAPC3-4	chr9:15588353-15588613	NONHSAT130276

Variant related genes	Relation type
RNU6-14P	TF binding region
CCDC171	TF binding region
HMGN2P16	TF binding region
ENSG00000164989	chromatin interactions
ENSG00000164975	chromatin interactions
ENSG00000164985	chromatin interactions

Extended variants
information (count: 10704 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:10704 , 50 per page) page: 1 2 3 4 5 6 7 ... 215

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs811282	chr9:15578017-15578018	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532207224	chr9:15578035-15578036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547485563	chr9:15578041-15578042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535736455	chr9:15578063-15578064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191113918	chr9:15578082-15578083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549554617	chr9:15578096-15578097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183009827	chr9:15578197-15578198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569609175	chr9:15578201-15578202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536948842	chr9:15578224-15578225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565977605	chr9:15578240-15578241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143500147	chr9:15578246-15578247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147518940	chr9:15578258-15578259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114427559	chr9:15578267-15578268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557861827	chr9:15578271-15578272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577694454	chr9:15578277-15578278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185940914	chr9:15578279-15578280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371385018	chr9:15578288-15578289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535831635	chr9:15578299-15578300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202177244	chr9:15578302-15578303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200207851	chr9:15578310-15578311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140072975	chr9:15578321-15578322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575962754	chr9:15578335-15578336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190892845	chr9:15578337-15578338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78642741	chr9:15578340-15578341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1039813	chr9:15578352-15578353	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540500537	chr9:15578375-15578376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559387344	chr9:15578376-15578377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374757042	chr9:15578405-15578406	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540536634	chr9:15578406-15578407	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559876731	chr9:15578407-15578408	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576799406	chr9:15578408-15578409	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112878680	chr9:15578428-15578429	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36232245	chr9:15578440-15578441	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183087670	chr9:15578477-15578478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547734229	chr9:15578507-15578508	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1039814	chr9:15578530-15578531	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187426096	chr9:15578536-15578537	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191963494	chr9:15578616-15578617	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573887246	chr9:15578632-15578633	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35672487	chr9:15578641-15578642	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542603739	chr9:15578645-15578646	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570441308	chr9:15578657-15578658	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574632990	chr9:15578673-15578674	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546518132	chr9:15578693-15578694	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183372130	chr9:15578732-15578733	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76084813	chr9:15578789-15578790	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374448769	chr9:15578793-15578794	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371488743	chr9:15578822-15578823	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150235748	chr9:15578847-15578848	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376424195	chr9:15578857-15578858	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15553800-15580600	Weak transcription	Ovary	ovary
2	chr9:15553800-15592600	Weak transcription	Left Ventricle	heart
3	chr9:15554000-15590200	Weak transcription	Fetal Stomach	stomach
4	chr9:15554400-15579400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:15554600-15580800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:15562200-15588200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:15562400-15583800	Weak transcription	Thymus	Thymus
8	chr9:15565000-15578800	Weak transcription	Fetal Thymus	thymus
9	chr9:15572400-15580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:15574600-15580000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:15574800-15579400	Strong transcription	Primary hematopoietic stem cells	blood
12	chr9:15576800-15578600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:15577000-15578800	Weak transcription	Fetal Lung	lung
14	chr9:15578400-15579200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:15578600-15578800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:15578600-15580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:15578800-15579000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:15578800-15579200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:15578800-15579200	Enhancers	Fetal Lung	lung
20	chr9:15578800-15580400	Strong transcription	Fetal Thymus	thymus
21	chr9:15579000-15579200	Enhancers	Fetal Kidney	kidney
22	chr9:15579400-15590200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:15580000-15587000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:15580000-15587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:15580400-15581000	Weak transcription	Fetal Thymus	thymus
26	chr9:15580800-15582200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:15581000-15581600	Strong transcription	Fetal Thymus	thymus
28	chr9:15581600-15583000	Weak transcription	Fetal Thymus	thymus
29	chr9:15582200-15583200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:15583000-15583400	ZNF genes & repeats	Fetal Thymus	thymus
31	chr9:15583200-15584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:15583400-15584800	Enhancers	Fetal Thymus	thymus
33	chr9:15583600-15584800	Enhancers	Placenta	Placenta
34	chr9:15583800-15586000	Enhancers	Thymus	Thymus
35	chr9:15584000-15585000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr9:15584400-15584800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:15584400-15585000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:15584400-15585800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:15584400-15588600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:15584600-15584800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr9:15584600-15585400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:15584600-15585400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:15584600-15585600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:15584600-15585800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:15584800-15585200	Weak transcription	Fetal Thymus	thymus
46	chr9:15584800-15585600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:15584800-15585600	Weak transcription	Placenta	Placenta
48	chr9:15585200-15585600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:15585200-15586000	Enhancers	Fetal Thymus	thymus
50	chr9:15585400-15585600	Enhancers	H1 Cell Line	embryonic stem cell

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