Variant report

Variant	nsv892604
Chromosome Location	chr9:14519301-14559910
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	chr9:14525821-14526308	K562	blood:	n/a	n/a
2	ARID3A	chr9:14523621-14523918	K562	blood:	n/a	n/a
3	ARID3A	chr9:14528249-14529969	K562	blood:	n/a	n/a
4	ARID3A	chr9:14527425-14527544	K562	blood:	n/a	n/a
5	ARID3A	chr9:14524947-14525548	K562	blood:	n/a	n/a
6	ARID3A	chr9:14532898-14533098	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:14538497-14538813	K562	blood:	n/a	n/a
8	ARID3A	chr9:14522239-14523074	K562	blood:	n/a	n/a
9	ARID3A	chr9:14521846-14521847	K562	blood:	n/a	n/a
10	ARID3A	chr9:14530236-14532723	K562	blood:	n/a	n/a
11	ATF1	chr9:14531098-14532606	K562	blood:	n/a	n/a
12	ATF1	chr9:14523608-14523943	K562	blood:	n/a	n/a
13	ATF2	chr9:14547129-14547833	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr9:14547181-14547669	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr9:14523611-14523761	K562	blood:	n/a	n/a
16	BCL11A	chr9:14547275-14547658	H1-hESC	embryonic stem cell:	n/a	n/a
17	BHLHE40	chr9:14538596-14538834	K562	blood:	n/a	n/a
18	BHLHE40	chr9:14525487-14525576	K562	blood:	n/a	n/a
19	BHLHE40	chr9:14531394-14532830	K562	blood:	n/a	n/a
20	BHLHE40	chr9:14523316-14523932	K562	blood:	n/a	n/a
21	CCNT2	chr9:14525905-14526156	K562	blood:	n/a	n/a
22	CCNT2	chr9:14538552-14538883	K562	blood:	n/a	n/a
23	CCNT2	chr9:14521518-14522253	K562	blood:	n/a	n/a
24	CCNT2	chr9:14534194-14534635	K562	blood:	n/a	n/a
25	CCNT2	chr9:14522654-14523043	K562	blood:	n/a	chr9:14522835-14522855
26	CEBPB	chr9:14553770-14553996	A549	lung:	n/a	chr9:14553866-14553877
27	CEBPB	chr9:14525154-14525615	K562	blood:	n/a	n/a
28	CEBPB	chr9:14529643-14529980	K562	blood:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808
29	CEBPB	chr9:14543069-14543478	K562	blood:	n/a	n/a
30	CEBPB	chr9:14553770-14554034	IMR90	lung:	n/a	chr9:14553866-14553877
31	CEBPB	chr9:14525127-14525605	K562	blood:	n/a	n/a
32	CEBPB	chr9:14523506-14523957	K562	blood:	n/a	n/a
33	CEBPB	chr9:14529632-14529989	IMR90	lung:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808
34	CEBPB	chr9:14531421-14531586	K562	blood:	n/a	n/a
35	CEBPB	chr9:14530937-14531204	HepG2	liver:	n/a	n/a
36	CEBPB	chr9:14522623-14522984	K562	blood:	n/a	n/a
37	CEBPB	chr9:14525271-14525512	K562	blood:	n/a	n/a
38	CEBPB	chr9:14529532-14530020	A549	lung:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808
39	CEBPB	chr9:14538585-14538798	K562	blood:	n/a	n/a
40	CEBPB	chr9:14547272-14547762	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr9:14553694-14554039	HepG2	liver:	n/a	chr9:14553866-14553877
42	CEBPB	chr9:14523549-14524198	K562	blood:	n/a	n/a
43	CEBPB	chr9:14553695-14554003	K562	blood:	n/a	chr9:14553866-14553877
44	CEBPB	chr9:14523587-14523918	K562	blood:	n/a	n/a
45	CEBPB	chr9:14529616-14529994	A549	lung:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808
46	CEBPB	chr9:14543048-14543349	K562	blood:	n/a	n/a
47	CEBPB	chr9:14529664-14529984	H1-hESC	embryonic stem cell:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808
48	CEBPB	chr9:14529649-14529985	HepG2	liver:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808
49	CEBPB	chr9:14529598-14530040	K562	blood:	n/a	chr9:14529797-14529810 chr9:14529799-14529808 chr9:14529799-14529808 chr9:14529797-14529810 chr9:14529798-14529809 chr9:14529799-14529808 chr9:14530014-14530022
50	CEBPB	chr9:14523741-14523871	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:14488421..14491052-chr9:14527490..14530260,2	K562	blood:
2	chr9:14532036..14533949-chr9:14535107..14537030,2	K562	blood:
3	chr9:14536696..14538433-chr9:14540578..14543493,2	MCF-7	breast:
4	chr9:14513208..14515171-chr9:14532827..14534848,2	K562	blood:
5	chr9:14526618..14530885-chr9:14532603..14534403,3	K562	blood:
6	chr9:14534376..14536312-chr9:14538392..14540360,2	K562	blood:
7	chr9:14526916..14528634-chr9:14534526..14536593,2	K562	blood:
8	chr9:14528961..14530611-chr9:14536905..14538766,2	K562	blood:
9	chr9:14524643..14526362-chr9:14532686..14534400,2	K562	blood:
10	chr9:14516030..14517919-chr9:14520265..14523157,2	K562	blood:
11	chr9:14534376..14536312-chr9:14538392..14540360,2	K562	blood:
12	chr9:14526916..14528634-chr9:14534526..14536593,2	K562	blood:
13	chr9:14553196..14555459-chr9:14557147..14560009,3	K562	blood:
14	chr9:14527866..14530461-chr9:14536328..14538766,2	K562	blood:
15	chr9:14524643..14526362-chr9:14532686..14534400,2	K562	blood:
16	chr9:14512951..14515476-chr9:14521722..14523544,2	K562	blood:
17	chr9:14526618..14530885-chr9:14532603..14534403,3	K562	blood:
18	chr9:14514179..14519206-chr9:14523722..14526155,4	K562	blood:
19	chr9:14528313..14531170-chr9:14563342..14566028,2	K562	blood:
20	chr9:14527866..14530461-chr9:14536328..14538766,2	K562	blood:
21	chr9:14551651..14553553-chr9:14553826..14555711,2	K562	blood:
22	chr9:14531418..14533504-chr9:14535462..14537860,3	K562	blood:
23	chr9:14528961..14530611-chr9:14536905..14538766,2	K562	blood:
24	chr9:14553196..14555459-chr9:14557147..14560009,3	K562	blood:
25	chr9:14536696..14538433-chr9:14540578..14543493,2	MCF-7	breast:
26	chr9:14551651..14553553-chr9:14553826..14555711,2	K562	blood:

Variant related genes	Relation type
ENSG00000237137	TF binding region
ENSG00000237137	chromatin interactions

Extended variants
information (count: 1632 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1632 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1106726	chr9:14519301-14519302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534091949	chr9:14519309-14519310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191043805	chr9:14519330-14519331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112780570	chr9:14519377-14519378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546007879	chr9:14519419-14519420	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145797794	chr9:14519444-14519445	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576864609	chr9:14519494-14519495	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369251266	chr9:14519529-14519530	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576108964	chr9:14519530-14519531	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560153768	chr9:14519542-14519543	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541513795	chr9:14519603-14519604	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200720132	chr9:14519615-14519616	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148987873	chr9:14519616-14519617	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527327027	chr9:14519620-14519621	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546984471	chr9:14519642-14519643	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560439375	chr9:14519676-14519677	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372516774	chr9:14519736-14519737	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532154790	chr9:14519743-14519744	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532676946	chr9:14519747-14519748	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147109995	chr9:14519771-14519772	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551740393	chr9:14519775-14519776	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183097315	chr9:14519858-14519859	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538341936	chr9:14519971-14519972	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186336795	chr9:14519982-14519983	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190384280	chr9:14520013-14520014	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565581800	chr9:14520024-14520025	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531155479	chr9:14520031-14520032	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72702954	chr9:14520037-14520038	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149160639	chr9:14520047-14520048	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373765025	chr9:14520050-14520051	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567555286	chr9:14520085-14520086	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182978534	chr9:14520109-14520110	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577245175	chr9:14520201-14520202	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574511950	chr9:14520211-14520212	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539325988	chr9:14520236-14520237	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112412269	chr9:14520253-14520254	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536313893	chr9:14520291-14520292	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373950523	chr9:14520338-14520339	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576116136	chr9:14520381-14520382	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541998577	chr9:14520392-14520393	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561490479	chr9:14520397-14520398	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs35582406	chr9:14520422-14520423	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs386732916	chr9:14520426-14520427	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs73641953	chr9:14520427-14520428	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182828416	chr9:14520431-14520432	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187431317	chr9:14520504-14520505	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552549849	chr9:14520529-14520530	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563110079	chr9:14520536-14520537	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531853560	chr9:14520555-14520556	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs13288173	chr9:14520560-14520561	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Chordoma	21215367	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14516200-14521000	Weak transcription	Psoas Muscle	Psoas
2	chr9:14516400-14519800	Enhancers	K562	blood
3	chr9:14516600-14520400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:14517600-14520200	Weak transcription	HSMM	muscle
5	chr9:14517800-14520400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:14517800-14520800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:14518800-14519400	Flanking Active TSS	HSMMtube	muscle
8	chr9:14519000-14520600	Weak transcription	Brain Germinal Matrix	brain
9	chr9:14519200-14519400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:14519400-14520800	Active TSS	HSMMtube	muscle
11	chr9:14519800-14520600	Weak transcription	K562	blood
12	chr9:14520200-14521400	Enhancers	HSMM	muscle
13	chr9:14520400-14521000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:14520400-14521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:14520600-14521000	Enhancers	Brain Germinal Matrix	brain
16	chr9:14520600-14522000	Enhancers	K562	blood
17	chr9:14520800-14521000	Flanking Active TSS	HSMMtube	muscle
18	chr9:14520800-14521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:14520800-14521400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:14521000-14522000	Enhancers	HSMMtube	muscle
21	chr9:14521000-14529000	Weak transcription	Brain Germinal Matrix	brain
22	chr9:14521400-14525800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:14521400-14527400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:14522000-14522600	Flanking Active TSS	K562	blood
25	chr9:14522600-14523800	Active TSS	K562	blood
26	chr9:14523800-14524200	Flanking Active TSS	K562	blood
27	chr9:14524200-14524600	Enhancers	K562	blood
28	chr9:14524600-14525600	Flanking Active TSS	K562	blood
29	chr9:14525600-14525800	Active TSS	K562	blood
30	chr9:14525800-14526000	Flanking Active TSS	K562	blood
31	chr9:14525800-14526200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:14526000-14526800	Active TSS	K562	blood
33	chr9:14526200-14530200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:14526800-14527000	Enhancers	K562	blood
35	chr9:14527000-14528000	Weak transcription	K562	blood
36	chr9:14527400-14527600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:14527600-14528000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:14528000-14531400	Active TSS	K562	blood
39	chr9:14528000-14531800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:14528400-14529000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:14528600-14528800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:14528600-14529400	Enhancers	Fetal Heart	heart
43	chr9:14528800-14529200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:14528800-14529400	Bivalent Enhancer	Fetal Lung	lung
45	chr9:14529000-14529400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr9:14529000-14529400	Enhancers	Fetal Kidney	kidney
47	chr9:14529000-14529400	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:14529000-14529400	Active TSS	Right Atrium	heart
49	chr9:14529000-14530400	Enhancers	Brain Germinal Matrix	brain
50	chr9:14529000-14532200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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