Variant report

Variant	nsv892642
Chromosome Location	chr9:16233085-16282979
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	chr9:16267355-16267636	HepG2	liver:	n/a	n/a
2	ATF2	chr9:16266633-16267061	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr9:16267580-16267836	A549	lung:	n/a	n/a
4	CEBPB	chr9:16246216-16246494	ECC-1	luminal epithelium:	n/a	chr9:16246308-16246319
5	CEBPB	chr9:16236289-16236673	A549	lung:	n/a	n/a
6	CEBPB	chr9:16262894-16263255	Hela-S3	cervix:	n/a	chr9:16263083-16263096
7	CEBPB	chr9:16236346-16236654	HepG2	liver:	n/a	n/a
8	CEBPB	chr9:16262806-16263315	A549	lung:	n/a	chr9:16263083-16263096
9	CEBPB	chr9:16246002-16246621	A549	lung:	n/a	chr9:16246308-16246319
10	CEBPB	chr9:16267407-16267741	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:16236214-16236699	IMR90	lung:	n/a	n/a
12	CEBPB	chr9:16246145-16246487	IMR90	lung:	n/a	chr9:16246308-16246319
13	CEBPB	chr9:16246167-16246399	HepG2	liver:	n/a	chr9:16246308-16246319
14	CEBPB	chr9:16236229-16236824	A549	lung:	n/a	n/a
15	CEBPB	chr9:16246117-16246501	Hela-S3	cervix:	n/a	chr9:16246308-16246319
16	CEBPB	chr9:16246133-16246486	A549	lung:	n/a	chr9:16246308-16246319
17	CEBPB	chr9:16246097-16246547	ECC-1	luminal epithelium:	n/a	chr9:16246308-16246319
18	CEBPB	chr9:16236307-16236698	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr9:16282187-16282550	IMR90	lung:	n/a	n/a
20	CEBPB	chr9:16236327-16236675	A549	lung:	n/a	n/a
21	CEBPB	chr9:16262882-16263272	IMR90	lung:	n/a	chr9:16263083-16263096
22	CEBPB	chr9:16247255-16247796	IMR90	lung:	n/a	n/a
23	CEBPB	chr9:16246071-16246523	A549	lung:	n/a	chr9:16246308-16246319
24	CEBPB	chr9:16267320-16267728	MCF-7	breast:	n/a	n/a
25	CEBPB	chr9:16262908-16263197	A549	lung:	n/a	chr9:16263083-16263096
26	CHD2	chr9:16233684-16233721	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr9:16262803-16263037	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr9:16257700-16257794	GM10248	blood:	n/a	n/a
29	CTCF	chr9:16236100-16236250	HPF	lung:	n/a	chr9:16236230-16236237
30	CTCF	chr9:16257626-16257864	MCF-7	breast:	n/a	n/a
31	CTCF	chr9:16266730-16266943	MCF-7	breast:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
32	CTCF	chr9:16257720-16257870	GM12878	blood:	n/a	n/a
33	CTCF	chr9:16266760-16266910	GM12875	blood:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
34	CTCF	chr9:16257760-16257910	HCM	heart:	n/a	n/a
35	CTCF	chr9:16266760-16266910	AG10803	skin:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
36	CTCF	chr9:16266720-16266870	HCT-116	colon:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
37	CTCF	chr9:16266481-16267210	A549	lung:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266509-16266518 chr9:16266822-16266843
38	CTCF	chr9:16251769-16251799	LNCaP	prostate:	n/a	n/a
39	CTCF	chr9:16266719-16266920	GM13977	blood:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
40	CTCF	chr9:16266647-16267015	K562	blood:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
41	CTCF	chr9:16257240-16257390	HMEC	breast:	n/a	n/a
42	CTCF	chr9:16258240-16258390	GM06990	blood:	n/a	n/a
43	CTCF	chr9:16266700-16266850	HCM	heart:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
44	CTCF	chr9:16266520-16266670	HCM	heart:	n/a	n/a
45	CTCF	chr9:16266760-16266910	HepG2	liver:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
46	CTCF	chr9:16257680-16257830	HPF	lung:	n/a	n/a
47	CTCF	chr9:16257700-16257850	GM12866	blood:	n/a	n/a
48	CTCF	chr9:16266728-16266946	ProgFib	skin:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
49	CTCF	chr9:16266733-16266918	MCF-7	breast:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843
50	CTCF	chr9:16266780-16266930	HMF	breast:	n/a	chr9:16266821-16266837 chr9:16266820-16266838 chr9:16266822-16266843

No.	Distal block	Cell Line	Cell type
1	chr9:16191908..16192691-chr9:16266310..16267154,2	MCF-7	breast:
2	chr9:16246422..16248006-chr9:16250625..16252311,2	MCF-7	breast:
3	chr9:16274560..16276227-chr9:16276292..16279217,2	K562	blood:
4	chr9:16246422..16248006-chr9:16250625..16252311,2	MCF-7	breast:
5	chr9:16233531..16235152-chr9:16236701..16238739,2	MCF-7	breast:
6	chr9:16259316..16262600-chr9:16264343..16266990,3	MCF-7	breast:
7	chr9:16233531..16235152-chr9:16236701..16238739,2	MCF-7	breast:
8	chr9:16259316..16262600-chr9:16264343..16266990,3	MCF-7	breast:
9	chr9:16281151..16283820-chr9:16286238..16289192,2	MCF-7	breast:
10	chr9:16201134..16203881-chr9:16231710..16234448,2	MCF-7	breast:
11	chr9:16191835..16192793-chr9:16257298..16257982,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf92-1	chr9:16276229-16276311	NR_073471

Variant related genes	Relation type
C9orf92	TF binding region
ENSG00000205549	chromatin interactions

Extended variants
information (count: 2330 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2330 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10810534	chr9:16233085-16233086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562104784	chr9:16233088-16233089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528768537	chr9:16233109-16233110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114295647	chr9:16233172-16233173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114637515	chr9:16233201-16233202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559972900	chr9:16233223-16233224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77791563	chr9:16233266-16233267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549306405	chr9:16233307-16233308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567676283	chr9:16233328-16233329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564916852	chr9:16233347-16233348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72712867	chr9:16233371-16233372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10756745	chr9:16233377-16233378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568971413	chr9:16233383-16233384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12338517	chr9:16233410-16233411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571639514	chr9:16233447-16233448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184050822	chr9:16233477-16233478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554172255	chr9:16233485-16233486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187367081	chr9:16233535-16233536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536801663	chr9:16233539-16233540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555225503	chr9:16233540-16233541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371331629	chr9:16233590-16233591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537715851	chr9:16233594-16233595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556062669	chr9:16233613-16233614	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577546587	chr9:16233657-16233658	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544666229	chr9:16233680-16233681	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142008111	chr9:16233686-16233687	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571997517	chr9:16233705-16233706	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10962344	chr9:16233712-16233713	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566760301	chr9:16233743-16233744	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150203982	chr9:16233753-16233754	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542715472	chr9:16233792-16233793	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12003973	chr9:16233795-16233796	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376489207	chr9:16233823-16233824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531962869	chr9:16233842-16233843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115561538	chr9:16233847-16233848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139047243	chr9:16233851-16233852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12003991	chr9:16233857-16233858	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12002237	chr9:16233877-16233878	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs377020232	chr9:16233884-16233885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536310598	chr9:16233885-16233886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200964857	chr9:16233886-16233887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199703207	chr9:16233887-16233888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117021508	chr9:16233891-16233892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115656473	chr9:16233955-16233956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555977314	chr9:16233965-16233966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577510974	chr9:16233981-16233982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191691579	chr9:16233982-16233983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553447155	chr9:16234015-16234016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373767751	chr9:16234046-16234047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113951751	chr9:16234062-16234063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16218600-16233600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:16229000-16233600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:16232200-16233600	Weak transcription	Right Ventricle	heart
4	chr9:16232800-16236000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:16233400-16234400	ZNF genes & repeats	Spleen	Spleen
6	chr9:16233600-16233800	Enhancers	Right Ventricle	heart
7	chr9:16233600-16235200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:16233600-16235400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:16233600-16235400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:16233800-16234600	Weak transcription	Right Ventricle	heart
11	chr9:16234200-16234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:16234800-16235000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:16234800-16235000	Enhancers	Right Ventricle	heart
14	chr9:16235000-16236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:16235200-16243200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:16235400-16237600	Enhancers	Fetal Lung	lung
17	chr9:16235400-16242400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:16235600-16236600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:16235600-16236600	Enhancers	Fetal Stomach	stomach
20	chr9:16235800-16236000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr9:16235800-16236800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:16235800-16237400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:16235800-16237400	Enhancers	NHLF	lung
24	chr9:16235800-16239000	Enhancers	NHDF-Ad	bronchial
25	chr9:16235800-16239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:16236000-16236200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr9:16236000-16236400	Enhancers	Fetal Muscle Trunk	muscle
28	chr9:16236000-16236400	Enhancers	Ovary	ovary
29	chr9:16236000-16236400	Enhancers	Right Atrium	heart
30	chr9:16236000-16236600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:16236000-16237000	Enhancers	Adipose Nuclei	Adipose
32	chr9:16236000-16237400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:16236000-16237400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:16236000-16237400	Enhancers	HSMMtube	muscle
35	chr9:16236000-16237600	Enhancers	HSMM	muscle
36	chr9:16236200-16236600	Enhancers	Rectal Smooth Muscle	rectum
37	chr9:16236200-16237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:16236200-16237000	Enhancers	A549	lung
39	chr9:16236200-16237200	Enhancers	Osteobl	bone
40	chr9:16236400-16240200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr9:16236600-16237000	Weak transcription	Fetal Stomach	stomach
42	chr9:16236600-16240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:16236800-16237400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:16237000-16237400	Enhancers	Fetal Stomach	stomach
45	chr9:16237000-16240400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:16237000-16240600	Weak transcription	A549	lung
47	chr9:16237000-16245400	Weak transcription	Adipose Nuclei	Adipose
48	chr9:16237200-16240400	Weak transcription	Osteobl	bone
49	chr9:16237400-16237600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:16237400-16239600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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