Variant report

Variant	esv3395699
Chromosome Location	chr12:32056734-32082218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

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	chr12:32075884-32076289	HCT-116	colon:	n/a	n/a
5	CBX3	chr12:32059702-32060122	K562	blood:	n/a	n/a
6	CBX3	chr12:32068338-32068857	K562	blood:	n/a	n/a
7	CBX3	chr12:32075340-32075536	K562	blood:	n/a	n/a
8	CBX3	chr12:32075887-32076294	K562	blood:	n/a	n/a
9	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
10	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
11	CBX3	chr12:32075247-32075699	K562	blood:	n/a	n/a
12	CBX3	chr12:32075691-32076415	HCT-116	colon:	n/a	n/a
13	CBX3	chr12:32068426-32068695	K562	blood:	n/a	n/a
14	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
15	CBX3	chr12:32075714-32076342	K562	blood:	n/a	n/a
16	CEBPB	chr12:32059586-32059883	A549	lung:	n/a	chr12:32059746-32059757
17	CEBPB	chr12:32059614-32059945	K562	blood:	n/a	chr12:32059746-32059757
18	CEBPB	chr12:32056558-32056746	IMR90	lung:	n/a	n/a
19	CEBPB	chr12:32059567-32059921	HepG2	liver:	n/a	chr12:32059746-32059757
20	CEBPB	chr12:32075602-32075693	K562	blood:	n/a	n/a
21	CEBPB	chr12:32080807-32080902	HepG2	liver:	n/a	chr12:32080832-32080843
22	CEBPB	chr12:32080801-32080811	A549	lung:	n/a	n/a
23	CEBPB	chr12:32056581-32056735	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr12:32059537-32060020	A549	lung:	n/a	chr12:32059746-32059757
25	CHD1	chr12:32060206-32060214	GM12878	blood:	n/a	n/a
26	CHD2	chr12:32059673-32059739	GM12878	blood:	n/a	n/a
27	CTCF	chr12:32062440-32062590	GM12874	blood:	n/a	n/a
28	CTCF	chr12:32068920-32069070	AG09309	skin:	n/a	n/a
29	CTCF	chr12:32068920-32069070	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr12:32066914-32066961	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr12:32069031-32069115	A549	lung:	n/a	n/a
32	E2F4	chr12:32077804-32078004	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr12:32070470-32070485	MCF10A-Er-Src	breast:	n/a	chr12:32070470-32070479
34	EBF1	chr12:32081509-32081728	GM12878	blood:	n/a	n/a
35	EBF1	chr12:32081570-32081578	GM12878	blood:	n/a	n/a
36	EBF1	chr12:32059747-32060162	GM12878	blood:	n/a	n/a
37	EBF1	chr12:32059830-32060186	GM12878	blood:	n/a	n/a
38	EBF1	chr12:32059512-32060224	GM12878	blood:	n/a	n/a
39	EP300	chr12:32059642-32060207	GM12878	blood:	n/a	n/a
40	EP300	chr12:32075551-32076237	ECC-1	luminal epithelium:	n/a	n/a
41	EP300	chr12:32059648-32059826	GM12878	blood:	n/a	n/a
42	FOS	chr12:32075679-32075988	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
43	FOS	chr12:32075630-32076003	HUVEC	blood vessel:	n/a	chr12:32075816-32075827
44	FOS	chr12:32075696-32075971	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
45	FOS	chr12:32075685-32075968	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
46	FOS	chr12:32075648-32075971	MCF10A-Er-Src	breast:	n/a	chr12:32075816-32075827
47	FOSL2	chr12:32075700-32076008	HepG2	liver:	n/a	n/a
48	FOXM1	chr12:32059665-32060316	GM12878	blood:	n/a	n/a
49	IKZF1	chr12:32081390-32081759	GM12878	blood:	n/a	n/a
50	JUN	chr12:32059740-32060140	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:32081573-32081623	HCF	heart:	n/a
2	chr12:32081573-32081623	Hela-S3	cervix:	n/a
3	chr12:32081573-32081623	BE2_C	brain:	n/a
4	chr12:32081573-32081623	K562	blood:	n/a
5	chr12:32081573-32081623	A549	lung:	n/a
6	chr12:32081573-32081623	HRPEpiC	eye:	n/a
7	chr12:32081573-32081623	ECC-1	luminal epithelium:	n/a
8	chr12:32081573-32081623	AG04449	skin:	fetal
9	chr12:32081573-32081623	SK-N-SH	brain:	n/a
10	chr12:32081573-32081623	Hepatocyte	liver:	n/a
11	chr12:32081573-32081623	HepG2	liver:	n/a
12	chr12:32081573-32081623	IMR90	lung:	fetal
13	chr12:32081573-32081623	PrEC	prostate:	n/a
14	chr12:32081573-32081623	ProgFib	skin:	n/a
15	chr12:32081573-32081623	SK-N-SH_RA	brain:	n/a
16	chr12:32081573-32081623	HMEC	breast:	n/a
17	chr12:32081573-32081623	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:32081573-32081623	HIPEpiC	eye:	n/a
19	chr12:32081573-32081623	HEEpiC	esophagus:	n/a
20	chr12:32081573-32081623	Caco-2	colon:	n/a
21	chr12:32081573-32081623	GM06990	blood:	n/a
22	chr12:32081573-32081623	GM12892	blood:	n/a
23	chr12:32081573-32081623	PANC-1	pancreas:	n/a
24	chr12:32081573-32081623	NB4	blood:	n/a
25	chr12:32081573-32081623	GM12878	blood:	n/a
26	chr12:32081573-32081623	HRCEpiC	kidney:	n/a
27	chr12:32081573-32081623	NH-A	brain:	n/a
28	chr12:32081573-32081623	PFSK-1	brain:	n/a
29	chr12:32081573-32081623	CMK	blood:	n/a
30	chr12:32081573-32081623	MCF-7	breast:	n/a
31	chr12:32081573-32081623	HCT-116	colon:	n/a
32	chr12:32081573-32081623	SKMC	muscle:	n/a
33	chr12:32081573-32081623	H1-hESC	embryonic stem cell:	embryo
34	chr12:32081573-32081623	HUVEC	blood vessel:	n/a
35	chr12:32081573-32081623	AG09319	gingival:	n/a
36	chr12:32081573-32081623	Jurkat	blood:	n/a
37	chr12:32081573-32081623	LNCaP	prostate:	n/a
38	chr12:32081573-32081623	NHDF-neo	bronchial:	n/a
39	chr12:32081573-32081623	MCF10A-Er-Src	breast:	n/a
40	chr12:32081573-32081623	T-47D	breast:	n/a
41	chr12:32081573-32081623	HEK293	kidney:	embryo
42	chr12:32081573-32081623	GM12891	blood:	n/a
43	chr12:32081573-32081623	SAEC	small airway:	n/a
44	chr12:32081573-32081623	AG09309	skin:	n/a
45	chr12:32081573-32081623	AG10803	skin:	n/a
46	chr12:32081573-32081623	HCPEpiC	choroid plexus:	n/a
47	chr12:32081573-32081623	HCM	heart:	n/a
48	chr12:32081573-32081623	AG04450	lung:	fetal
49	chr12:32081573-32081623	SK-N-MC	brain:	n/a
50	chr12:32081573-32081623	RPTEC	kidney:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
2	chr12:32081705..32084411-chr12:32112692..32114835,2	K562	blood:
3	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:

(count:6 , 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
5	lnc-H3F3C-7	chr12:32082065-32082477	NONHSAT027590
6	lnc-H3F3C-6	chr12:32077464-32077521	NONHSAT027589

No data

Variant related genes	Relation type
ENSG00000252584	TF binding region
ENSG00000252584	CpG island

Extended variants
information (count: 1042 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538850256	chr12:32056755-32056756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540010317	chr12:32056767-32056768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146804591	chr12:32056772-32056773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140632369	chr12:32056810-32056811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1259874	chr12:32056837-32056838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573564045	chr12:32056838-32056839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536006290	chr12:32056862-32056863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552203743	chr12:32056886-32056887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116179187	chr12:32056899-32056900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376945206	chr12:32056919-32056920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545234884	chr12:32056934-32056935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536279023	chr12:32056939-32056940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73078000	chr12:32056943-32056944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554523555	chr12:32056968-32056969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561165548	chr12:32057005-32057006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146493894	chr12:32057077-32057078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370332416	chr12:32057116-32057117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113754179	chr12:32057153-32057154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111823517	chr12:32057204-32057205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11051661	chr12:32057209-32057210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551383039	chr12:32057218-32057219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566776532	chr12:32057223-32057224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148278802	chr12:32057224-32057225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140044027	chr12:32057242-32057243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146934184	chr12:32057249-32057250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372018025	chr12:32057287-32057288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138003967	chr12:32057311-32057312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373820552	chr12:32057312-32057313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567893571	chr12:32057314-32057315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375689690	chr12:32057323-32057324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558816263	chr12:32057345-32057346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374078490	chr12:32057365-32057366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535177463	chr12:32057382-32057383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11051662	chr12:32057396-32057397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572826363	chr12:32057423-32057424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111261708	chr12:32057431-32057432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543814611	chr12:32057453-32057454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563313457	chr12:32057525-32057526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187469473	chr12:32057526-32057527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545875071	chr12:32057535-32057536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559559587	chr12:32057579-32057580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576673574	chr12:32057591-32057592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542461730	chr12:32057594-32057595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150706099	chr12:32057607-32057608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs193298087	chr12:32057644-32057645	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs11051663	chr12:32057654-32057655	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568746649	chr12:32057667-32057668	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs531077867	chr12:32057676-32057677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs372274213	chr12:32057708-32057709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs539414769	chr12:32057724-32057725	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32051600-32058800	Weak transcription	Placenta	Placenta
2	chr12:32052200-32058200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:32053800-32059000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:32058200-32061000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr12:32058200-32061200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr12:32058200-32062800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr12:32058400-32061200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr12:32058800-32060200	ZNF genes & repeats	Placenta	Placenta
9	chr12:32058800-32060800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr12:32058800-32061000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr12:32059000-32060000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:32059200-32060600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr12:32059600-32059800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:32059800-32060200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr12:32059800-32060800	ZNF genes & repeats	Dnd41	blood
16	chr12:32059800-32062200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:32060000-32061000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:32060200-32060400	Weak transcription	Placenta	Placenta
19	chr12:32060400-32060800	Enhancers	Placenta	Placenta
20	chr12:32062200-32062600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:32065600-32066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:32065600-32066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:32066000-32068800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:32066000-32074800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:32068200-32068400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr12:32070200-32071000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:32072000-32074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:32074400-32077000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:32074800-32076400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32074800-32077200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr12:32075000-32076800	ZNF genes & repeats	Dnd41	blood
32	chr12:32075200-32076800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:32075200-32076800	ZNF genes & repeats	Liver	Liver
34	chr12:32075400-32075600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr12:32075400-32076200	ZNF genes & repeats	Colonic Mucosa	Colon
36	chr12:32075400-32076400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr12:32075400-32076800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr12:32075600-32076000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr12:32075600-32076600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:32075600-32076600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr12:32075600-32076800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
42	chr12:32076000-32076600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr12:32076000-32077000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr12:32076600-32077200	Weak transcription	Primary T cells from cord blood	blood
45	chr12:32076800-32080600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:32076800-32080600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:32077000-32080400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:32080200-32081000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:32080200-32081400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:32080400-32080600	ZNF genes & repeats	Aorta	Aorta

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