Variant report

Variant	nsv528760
Chromosome Location	chr12:32052422-32074398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
2	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
3	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
4	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
5	CBX3	chr12:32068426-32068695	K562	blood:	n/a	n/a
6	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
7	CBX3	chr12:32059702-32060122	K562	blood:	n/a	n/a
8	CBX3	chr12:32068338-32068857	K562	blood:	n/a	n/a
9	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
10	CEBPB	chr12:32059614-32059945	K562	blood:	n/a	chr12:32059746-32059757
11	CEBPB	chr12:32059567-32059921	HepG2	liver:	n/a	chr12:32059746-32059757
12	CEBPB	chr12:32056558-32056746	IMR90	lung:	n/a	n/a
13	CEBPB	chr12:32056581-32056735	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr12:32059537-32060020	A549	lung:	n/a	chr12:32059746-32059757
15	CEBPB	chr12:32059586-32059883	A549	lung:	n/a	chr12:32059746-32059757
16	CHD1	chr12:32060206-32060214	GM12878	blood:	n/a	n/a
17	CHD2	chr12:32059673-32059739	GM12878	blood:	n/a	n/a
18	CTCF	chr12:32069031-32069115	A549	lung:	n/a	n/a
19	CTCF	chr12:32066914-32066961	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr12:32068920-32069070	AG09309	skin:	n/a	n/a
21	CTCF	chr12:32062440-32062590	GM12874	blood:	n/a	n/a
22	CTCF	chr12:32068920-32069070	WERI-Rb-1	eye:	n/a	n/a
23	E2F4	chr12:32070470-32070485	MCF10A-Er-Src	breast:	n/a	chr12:32070470-32070479
24	EBF1	chr12:32059747-32060162	GM12878	blood:	n/a	n/a
25	EBF1	chr12:32059830-32060186	GM12878	blood:	n/a	n/a
26	EBF1	chr12:32059512-32060224	GM12878	blood:	n/a	n/a
27	EP300	chr12:32059642-32060207	GM12878	blood:	n/a	n/a
28	EP300	chr12:32059648-32059826	GM12878	blood:	n/a	n/a
29	EP300	chr12:32053268-32053350	GM12878	blood:	n/a	n/a
30	FOS	chr12:32053039-32053192	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:32053082-32053141	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXM1	chr12:32059665-32060316	GM12878	blood:	n/a	n/a
33	JUN	chr12:32059740-32060140	K562	blood:	n/a	n/a
34	KAP1	chr12:32059549-32060161	K562	blood:	n/a	n/a
35	KAP1	chr12:32059786-32060028	U2OS	brain:	n/a	n/a
36	KAP1	chr12:32068262-32068960	K562	blood:	n/a	n/a
37	MAFF	chr12:32055995-32056281	HepG2	liver:	n/a	chr12:32056148-32056166
38	MAFF	chr12:32056069-32056191	K562	blood:	n/a	chr12:32056148-32056166
39	MAFF	chr12:32072947-32073180	K562	blood:	n/a	n/a
40	MAFK	chr12:32055994-32056309	HepG2	liver:	n/a	chr12:32056149-32056164
41	MAFK	chr12:32072946-32073146	K562	blood:	n/a	n/a
42	MAFK	chr12:32056047-32056291	HepG2	liver:	n/a	chr12:32056149-32056164
43	MAFK	chr12:32056047-32056288	IMR90	lung:	n/a	chr12:32056149-32056164
44	MAX	chr12:32059608-32059955	NB4	blood:	n/a	n/a
45	MAZ	chr12:32059611-32059700	GM12878	blood:	n/a	n/a
46	MTA3	chr12:32059501-32060404	GM12878	blood:	n/a	n/a
47	MYC	chr12:32068276-32068359	MCF-7	breast:	n/a	n/a
48	MYC	chr12:32059928-32059969	K562	blood:	n/a	n/a
49	MYC	chr12:32059635-32059917	NB4	blood:	n/a	n/a
50	NFIC	chr12:32059532-32060214	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
2	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580
2	lnc-H3F3C-6	chr12:32068728-32068779	NONHSAT027589
3	lnc-H3F3C-6	chr12:32069002-32069098	NONHSAT027589
4	lnc-H3F3C-2	chr12:32068298-32068616	NONHSAT027580

No data

Variant related genes	Relation type
ENSG00000252584	TF binding region

Extended variants
information (count: 893 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1150975	chr12:32052422-32052423	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189807568	chr12:32052467-32052468	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534679384	chr12:32052485-32052486	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554833520	chr12:32052499-32052500	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574561227	chr12:32052536-32052537	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55843000	chr12:32052641-32052642	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528591936	chr12:32052682-32052683	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183520360	chr12:32052726-32052727	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557221362	chr12:32052776-32052777	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577020187	chr12:32052787-32052788	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546808479	chr12:32052804-32052805	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs71062494	chr12:32052818-32052819	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs56411693	chr12:32052827-32052828	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546036036	chr12:32052828-32052829	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs398019103	chr12:32052837-32052838	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186357821	chr12:32052877-32052878	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559285868	chr12:32052891-32052892	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191858404	chr12:32052918-32052919	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541897884	chr12:32052919-32052920	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562177553	chr12:32052948-32052949	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535450680	chr12:32053077-32053078	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117997143	chr12:32053129-32053130	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77450464	chr12:32053141-32053142	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183728512	chr12:32053169-32053170	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199682927	chr12:32053177-32053178	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552223996	chr12:32053181-32053182	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4931581	chr12:32053189-32053190	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565658990	chr12:32053194-32053195	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188206463	chr12:32053209-32053210	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150663633	chr12:32053244-32053245	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568213572	chr12:32053269-32053270	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537257512	chr12:32053270-32053271	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140887937	chr12:32053294-32053295	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551099558	chr12:32053298-32053299	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576740419	chr12:32053325-32053326	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144848286	chr12:32053339-32053340	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552976004	chr12:32053411-32053412	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572885488	chr12:32053426-32053427	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541959443	chr12:32053430-32053431	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7315848	chr12:32053440-32053441	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530862143	chr12:32053463-32053464	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544807028	chr12:32053483-32053484	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564494652	chr12:32053497-32053498	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192922389	chr12:32053553-32053554	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529336122	chr12:32053594-32053595	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114722776	chr12:32053601-32053602	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182522251	chr12:32053605-32053606	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147944440	chr12:32053618-32053619	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186806436	chr12:32053650-32053651	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568159552	chr12:32053653-32053654	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32045000-32053800	ZNF genes & repeats	Thymus	Thymus
2	chr12:32046800-32053800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
3	chr12:32047200-32052600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
4	chr12:32047200-32054400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr12:32048400-32052600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:32049400-32053200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:32050200-32053800	ZNF genes & repeats	GM12878-XiMat	blood
8	chr12:32050400-32054000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr12:32051400-32052800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:32051400-32053800	ZNF genes & repeats	Dnd41	blood
11	chr12:32051600-32053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32051600-32054000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:32051600-32058800	Weak transcription	Placenta	Placenta
14	chr12:32052200-32052800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:32052200-32053600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:32052200-32058200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:32052400-32052600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:32052600-32052800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:32052600-32053000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:32052600-32053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:32052800-32053000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:32052800-32053400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:32052800-32053800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:32053000-32054000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:32053000-32054200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr12:32053200-32053800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:32053400-32053600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:32053600-32054000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:32053800-32059000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:32058200-32061000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr12:32058200-32061200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr12:32058200-32062800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr12:32058400-32061200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr12:32058800-32060200	ZNF genes & repeats	Placenta	Placenta
35	chr12:32058800-32060800	ZNF genes & repeats	GM12878-XiMat	blood
36	chr12:32058800-32061000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr12:32059000-32060000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:32059200-32060600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr12:32059600-32059800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:32059800-32060200	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr12:32059800-32060800	ZNF genes & repeats	Dnd41	blood
42	chr12:32059800-32062200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:32060000-32061000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:32060200-32060400	Weak transcription	Placenta	Placenta
45	chr12:32060400-32060800	Enhancers	Placenta	Placenta
46	chr12:32062200-32062600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:32065600-32066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:32065600-32066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:32066000-32068800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:32066000-32074800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links