Variant report

Variant	nsv557356
Chromosome Location	chr12:9343586-9362931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:9356993-9357267	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:9356977-9357172	HepG2	liver:	n/a	chr12:9357081-9357094 chr12:9357083-9357094 chr12:9357083-9357094 chr12:9357081-9357094 chr12:9357081-9357094 chr12:9357081-9357092
3	CEBPB	chr12:9353471-9353761	HepG2	liver:	n/a	chr12:9353628-9353639
4	CTCF	chr12:9359480-9359630	HPF	lung:	n/a	n/a
5	CTCF	chr12:9359621-9359630	HepG2	liver:	n/a	n/a
6	CTCF	chr12:9359664-9359665	HepG2	liver:	n/a	n/a
7	CTCF	chr12:9359637-9359642	HepG2	liver:	n/a	n/a
8	CTCF	chr12:9359560-9359710	HepG2	liver:	n/a	n/a
9	CTCF	chr12:9359580-9359730	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr12:9359580-9359730	GM12872	blood:	n/a	n/a
11	E2F4	chr12:9355348-9355446	MCF10A-Er-Src	breast:	n/a	n/a
12	FAM48A	chr12:9352575-9352957	GM12878	blood:	n/a	n/a
13	FOXA1	chr12:9360837-9361146	HepG2	liver:	n/a	n/a
14	FOXA1	chr12:9349445-9349658	HepG2	liver:	n/a	n/a
15	FOXA2	chr12:9360869-9361143	HepG2	liver:	n/a	n/a
16	GATA3	chr12:9356672-9356915	MCF-7	breast:	n/a	n/a
17	GATA3	chr12:9356697-9357026	MCF-7	breast:	n/a	n/a
18	MAFK	chr12:9352776-9352921	HepG2	liver:	n/a	chr12:9352862-9352873 chr12:9352862-9352873 chr12:9352861-9352872 chr12:9352861-9352872 chr12:9352866-9352876
19	MAFK	chr12:9351771-9351870	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr12:9356998-9357106	HepG2	liver:	n/a	n/a
21	MAFK	chr12:9343547-9343822	HepG2	liver:	n/a	chr12:9343657-9343667 chr12:9343655-9343664 chr12:9343651-9343671
22	MAZ	chr12:9352557-9352755	HepG2	liver:	n/a	n/a
23	MYC	chr12:9360979-9361055	NB4	blood:	n/a	n/a
24	MYC	chr12:9343636-9343836	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr12:9361245-9361259	MCF10A-Er-Src	breast:	n/a	n/a
26	NFE2	chr12:9350778-9350847	GM12878	blood:	n/a	n/a
27	NRF1	chr12:9354295-9354428	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr12:9349500-9349563	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:9356003-9356105	MCF-7	breast:	n/a	n/a
30	POLR2A	chr12:9344662-9344857	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr12:9356330-9356446	A549	lung:	n/a	n/a
32	POLR2A	chr12:9357834-9358151	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr12:9346500-9346509	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:9348876-9348941	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:9345373-9345416	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:9356450-9356491	A549	lung:	n/a	n/a
37	POLR2A	chr12:9344905-9345144	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:9357831-9358113	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr12:9344836-9344931	MCF10A-Er-Src	breast:	n/a	n/a
40	RCOR1	chr12:9360197-9360301	HepG2	liver:	n/a	n/a
41	STAT3	chr12:9347746-9347829	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr12:9353696-9353779	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr12:9362036-9362236	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9360986-9361036	H1-hESC	embryonic stem cell:	embryo
2	chr12:9360986-9361036	Hepatocyte	liver:	n/a
3	chr12:9360986-9361036	HUVEC	blood vessel:	n/a
4	chr12:9360986-9361036	CMK	blood:	n/a
5	chr12:9360933-9360983	K562	blood:	n/a
6	chr12:9360933-9360983	GM12878	blood:	n/a
7	chr12:9360854-9360904	ProgFib	skin:	n/a
8	chr12:9360854-9360904	SK-N-MC	brain:	n/a
9	chr12:9360933-9360983	HEK293	kidney:	embryo
10	chr12:9360986-9361036	SAEC	small airway:	n/a
11	chr12:9360986-9361036	HEEpiC	esophagus:	n/a
12	chr12:9360854-9360904	AG04449	skin:	fetal
13	chr12:9360854-9360904	BE2_C	brain:	n/a
14	chr12:9360986-9361036	Jurkat	blood:	n/a
15	chr12:9360986-9361036	ProgFib	skin:	n/a
16	chr12:9360854-9360904	NHDF-neo	bronchial:	n/a
17	chr12:9360933-9360983	AG09309	skin:	n/a
18	chr12:9360933-9360983	HEEpiC	esophagus:	n/a
19	chr12:9360933-9360983	NHBE	bronchial:	n/a
20	chr12:9360933-9360983	CMK	blood:	n/a
21	chr12:9360933-9360983	HMEC	breast:	n/a
22	chr12:9360854-9360904	HCT-116	colon:	n/a
23	chr12:9360854-9360904	T-47D	breast:	n/a
24	chr12:9360933-9360983	GM19239	blood:	n/a
25	chr12:9360933-9360983	NH-A	brain:	n/a
26	chr12:9360854-9360904	PrEC	prostate:	n/a
27	chr12:9360986-9361036	PrEC	prostate:	n/a
28	chr12:9360854-9360904	PFSK-1	brain:	n/a
29	chr12:9360933-9360983	AG04450	lung:	fetal
30	chr12:9360933-9360983	NB4	blood:	n/a
31	chr12:9360986-9361036	HRPEpiC	eye:	n/a
32	chr12:9360933-9360983	Jurkat	blood:	n/a
33	chr12:9360986-9361036	BE2_C	brain:	n/a
34	chr12:9360854-9360904	Hepatocyte	liver:	n/a
35	chr12:9360854-9360904	AG10803	skin:	n/a
36	chr12:9360986-9361036	HRE	kidney:	n/a
37	chr12:9360854-9360904	GM19239	blood:	n/a
38	chr12:9360986-9361036	K562	blood:	n/a
39	chr12:9360933-9360983	NHDF-neo	bronchial:	n/a
40	chr12:9360854-9360904	A549	lung:	n/a
41	chr12:9360986-9361036	NB4	blood:	n/a
42	chr12:9360854-9360904	HRE	kidney:	n/a
43	chr12:9360986-9361036	NHBE	bronchial:	n/a
44	chr12:9360854-9360904	ECC-1	luminal epithelium:	n/a
45	chr12:9360933-9360983	T-47D	breast:	n/a
46	chr12:9360986-9361036	BJ	skin:	n/a
47	chr12:9360854-9360904	HMEC	breast:	n/a
48	chr12:9360854-9360904	HEEpiC	esophagus:	n/a
49	chr12:9360933-9360983	HUVEC	blood vessel:	n/a
50	chr12:9360854-9360904	GM06990	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9354796..9357282-chr12:9358246..9360349,2	MCF-7	breast:
2	chr12:9351659..9353343-chr12:9353527..9355325,2	MCF-7	breast:
3	chr12:9344191..9346627-chr12:9356406..9359256,2	K562	blood:
4	chr12:9344252..9346316-chr12:9347068..9349580,2	MCF-7	breast:
5	chr12:9340013..9342388-chr12:9343069..9345668,2	MCF-7	breast:
6	chr12:9347399..9349002-chr12:9359576..9361272,2	MCF-7	breast:
7	chr12:9352680..9355417-chr12:9359065..9360639,2	K562	blood:
8	chr12:9344252..9346316-chr12:9347068..9349580,2	MCF-7	breast:
9	chr12:9344191..9346627-chr12:9356406..9359256,2	K562	blood:

No data

Variant related genes	Relation type
PZP	TF binding region
RNU7-189P	TF binding region
PZP	CpG island
RNU7-189P	CpG island
ENSG00000126838	chromatin interactions

Extended variants
information (count: 509 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11049351	chr12:9343586-9343587	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144840168	chr12:9343652-9343653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147923111	chr12:9343653-9343654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185197699	chr12:9343724-9343725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189956632	chr12:9343753-9343754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112574478	chr12:9343898-9343899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372522662	chr12:9343923-9343924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148975688	chr12:9343999-9344000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533138595	chr12:9344108-9344109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181877633	chr12:9344144-9344145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186563186	chr12:9344294-9344295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375965838	chr12:9344388-9344389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199558979	chr12:9344389-9344390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567892447	chr12:9344499-9344500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529270745	chr12:9344622-9344623	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113360216	chr12:9344626-9344627	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141656366	chr12:9344724-9344725	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374657580	chr12:9344766-9344767	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145484330	chr12:9344808-9344809	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138008046	chr12:9344824-9344825	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142132513	chr12:9344832-9344833	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377324245	chr12:9344833-9344834	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370681046	chr12:9344852-9344853	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115497306	chr12:9344876-9344877	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2075394	chr12:9344878-9344879	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200883168	chr12:9344883-9344884	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12423745	chr12:9344962-9344963	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551245101	chr12:9345051-9345052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373716233	chr12:9345083-9345084	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151166975	chr12:9345093-9345094	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367843259	chr12:9345095-9345096	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370991630	chr12:9345096-9345097	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199809522	chr12:9345121-9345122	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374450463	chr12:9345129-9345130	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368845114	chr12:9345130-9345131	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371909490	chr12:9345132-9345133	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199873342	chr12:9345135-9345136	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143933677	chr12:9345147-9345148	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368011806	chr12:9345166-9345167	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148194741	chr12:9345205-9345206	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200242477	chr12:9345211-9345212	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372146588	chr12:9345224-9345225	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140140094	chr12:9345229-9345230	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376566013	chr12:9345236-9345237	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368975876	chr12:9345253-9345254	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183466197	chr12:9345272-9345273	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10771407	chr12:9345273-9345274	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73249131	chr12:9345350-9345351	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375719550	chr12:9345361-9345362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377590133	chr12:9345377-9345378	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9340600-9353000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:9341800-9353200	Strong transcription	Liver	Liver
3	chr12:9344600-9345400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:9345400-9351600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:9351200-9355200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:9353000-9353800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:9353200-9353600	Genic enhancers	Liver	Liver
8	chr12:9353600-9353800	Strong transcription	Liver	Liver
9	chr12:9353800-9354600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9353800-9354600	Weak transcription	Liver	Liver
11	chr12:9354200-9356600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:9354600-9355800	Strong transcription	Liver	Liver
13	chr12:9354600-9357400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:9355000-9355200	Enhancers	Esophagus	oesophagus
15	chr12:9355800-9356200	Weak transcription	Liver	Liver
16	chr12:9356200-9356600	Genic enhancers	Liver	Liver
17	chr12:9356400-9357400	Enhancers	HepG2	liver
18	chr12:9356600-9357200	Enhancers	Fetal Lung	lung
19	chr12:9356600-9358600	Flanking Active TSS	Liver	Liver
20	chr12:9357200-9359400	Weak transcription	Fetal Lung	lung
21	chr12:9357400-9359600	Weak transcription	HepG2	liver
22	chr12:9357400-9384800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:9358600-9359000	Enhancers	Liver	Liver
24	chr12:9359000-9359400	Flanking Active TSS	Liver	Liver
25	chr12:9359400-9359600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:9359400-9359800	Enhancers	Fetal Lung	lung
27	chr12:9359400-9361000	Active TSS	Liver	Liver
28	chr12:9359600-9360800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:9359600-9361800	Enhancers	HepG2	liver
30	chr12:9360800-9361400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:9361000-9361400	Enhancers	Liver	Liver

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