Variant report

Variant	esv3418691
Chromosome Location	chr12:74046734-74077922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:74053673-74053952	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:74050227-74050497	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:74050280-74050430	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:74050341-74050432	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:74052511-74052528	HepG2	liver:	n/a	n/a
6	CTCF	chr12:74050329-74050430	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:74050300-74050450	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:74050260-74050410	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr12:74050296-74050452	Gliobla	brain:	n/a	n/a
10	CTCF	chr12:74050372-74050402	Fibrobl	skin:	n/a	n/a
11	CTCF	chr12:74050275-74050479	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:74050296-74050469	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:74050317-74050438	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:74050340-74050490	HCT-116	colon:	n/a	n/a
15	CTCF	chr12:74050240-74050390	HCT-116	colon:	n/a	n/a
16	CTCF	chr12:74050293-74050485	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:74050240-74050390	HEK293	kidney:	n/a	n/a
18	CTCF	chr12:74065480-74065553	Lung_OC	lung:	n/a	n/a
19	CTCF	chr12:74050260-74050410	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr12:74050139-74050519	MCF-7	breast:	n/a	n/a
21	E2F4	chr12:74063708-74063822	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr12:74072157-74072623	MCF-7	breast:	n/a	n/a
23	FOXA1	chr12:74065409-74065620	T-47D	breast:	n/a	n/a
24	FOXA1	chr12:74065431-74065629	T-47D	breast:	n/a	n/a
25	FOXA1	chr12:74065475-74065763	HepG2	liver:	n/a	n/a
26	FOXA2	chr12:74065265-74065776	A549	lung:	n/a	n/a
27	GATA3	chr12:74072040-74072723	MCF-7	breast:	n/a	n/a
28	GATA3	chr12:74072150-74072692	MCF-7	breast:	n/a	n/a
29	IRF3	chr12:74056007-74056077	GM12878	blood:	n/a	n/a
30	JUN	chr12:74072324-74072524	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUN	chr12:74071970-74071977	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr12:74072176-74072602	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAFF	chr12:74072994-74073231	HepG2	liver:	n/a	n/a
34	MAFF	chr12:74053626-74053976	HepG2	liver:	n/a	chr12:74053781-74053799
35	MAFF	chr12:74053702-74053853	K562	blood:	n/a	chr12:74053781-74053799
36	MAFK	chr12:74065495-74065573	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr12:74053624-74053972	IMR90	lung:	n/a	chr12:74053783-74053798
38	MAFK	chr12:74053612-74053973	H1-hESC	embryonic stem cell:	n/a	chr12:74053783-74053798
39	MAFK	chr12:74053610-74053976	HepG2	liver:	n/a	chr12:74053783-74053798
40	MAFK	chr12:74072975-74073233	HepG2	liver:	n/a	n/a
41	MAFK	chr12:74073047-74073194	Hela-S3	cervix:	n/a	n/a
42	MAFK	chr12:74059845-74059887	HepG2	liver:	n/a	n/a
43	MAFK	chr12:74053667-74053930	K562	blood:	n/a	chr12:74053783-74053798
44	MAFK	chr12:74058030-74058111	HepG2	liver:	n/a	n/a
45	MAFK	chr12:74072984-74073298	HepG2	liver:	n/a	n/a
46	MAFK	chr12:74072995-74073283	IMR90	lung:	n/a	n/a
47	MAFK	chr12:74053633-74053969	HepG2	liver:	n/a	chr12:74053783-74053798
48	MYC	chr12:74059156-74059232	MCF-7	breast:	n/a	n/a
49	NR2F2	chr12:74072091-74072529	MCF-7	breast:	n/a	n/a
50	NR2F2	chr12:74072110-74072664	MCF-7	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:74072114-74072164	BE2_C	brain:	n/a
2	chr12:74072114-74072164	BE2_C	brain:	n/a
3	chr12:74072114-74072164	NHBE	bronchial:	n/a
4	chr12:74072114-74072164	HCF	heart:	n/a
5	chr12:74072114-74072164	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:74072114-74072164	U87	brain:	n/a
7	chr12:74072114-74072164	Jurkat	blood:	n/a
8	chr12:74072114-74072164	MCF-7	breast:	n/a
9	chr12:74072114-74072164	Hepatocyte	liver:	n/a
10	chr12:74072114-74072164	SKMC	muscle:	n/a
11	chr12:74072114-74072164	SK-N-SH_RA	brain:	n/a
12	chr12:74072114-74072164	AG04449	skin:	fetal
13	chr12:74072114-74072164	SAEC	small airway:	n/a
14	chr12:74072114-74072164	HNPCEpiC	eye:	n/a
15	chr12:74072114-74072164	NH-A	brain:	n/a
16	chr12:74072114-74072164	LNCaP	prostate:	n/a
17	chr12:74072114-74072164	IMR90	lung:	fetal
18	chr12:74072114-74072164	ProgFib	skin:	n/a
19	chr12:74072114-74072164	T-47D	breast:	n/a
20	chr12:74072114-74072164	AG09319	gingival:	n/a
21	chr12:74072114-74072164	HRPEpiC	eye:	n/a
22	chr12:74072114-74072164	HL-60	blood:	n/a
23	chr12:74072114-74072164	HUVEC	blood vessel:	n/a
24	chr12:74072114-74072164	PrEC	prostate:	n/a
25	chr12:74072114-74072164	HCT-116	colon:	n/a
26	chr12:74072114-74072164	HAEpiC	amniotic membrane:	n/a
27	chr12:74072114-74072164	HRE	kidney:	n/a
28	chr12:74072114-74072164	H1-hESC	embryonic stem cell:	embryo
29	chr12:74072114-74072164	NHDF-neo	bronchial:	n/a
30	chr12:74072114-74072164	K562	blood:	n/a
31	chr12:74072114-74072164	HMEC	breast:	n/a
32	chr12:74072114-74072164	HCM	heart:	n/a
33	chr12:74072114-74072164	ovcar-3	ovarian:	n/a
34	chr12:74072114-74072164	Hela-S3	cervix:	n/a
35	chr12:74072114-74072164	HIPEpiC	eye:	n/a
36	chr12:74072114-74072164	GM12878	blood:	n/a
37	chr12:74072114-74072164	SK-N-SH	brain:	n/a
38	chr12:74072114-74072164	HepG2	liver:	n/a
39	chr12:74072114-74072164	PANC-1	pancreas:	n/a
40	chr12:74072114-74072164	PFSK-1	brain:	n/a
41	chr12:74072114-74072164	AG10803	skin:	n/a
42	chr12:74072114-74072164	NT2-D1	testis:	n/a
43	chr12:74072114-74072164	SK-N-MC	brain:	n/a
44	chr12:74072114-74072164	ECC-1	luminal epithelium:	n/a
45	chr12:74072114-74072164	HEEpiC	esophagus:	n/a
46	chr12:74072114-74072164	GM06990	blood:	n/a
47	chr12:74072114-74072164	CMK	blood:	n/a
48	chr12:74072114-74072164	MCF10A-Er-Src	breast:	n/a
49	chr12:74072114-74072164	AoSMC	blood vessel:	n/a
50	chr12:74072114-74072164	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:73908195..73908905-chr12:74049929..74050461,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1012P	TF binding region
RNU6-1012P	CpG island

Extended variants
information (count: 652 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146175605	chr12:74046741-74046742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183951990	chr12:74046762-74046763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554443304	chr12:74046792-74046793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566019451	chr12:74046806-74046807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558193013	chr12:74046816-74046817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371919693	chr12:74046823-74046824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12313429	chr12:74046828-74046829	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563890105	chr12:74046831-74046832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534230250	chr12:74046835-74046836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs386764251	chr12:74046881-74046882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112134327	chr12:74046913-74046914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543301699	chr12:74046959-74046960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113447142	chr12:74046975-74046976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188847603	chr12:74046991-74046992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73336040	chr12:74046996-74046997	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546951906	chr12:74047021-74047022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs192647898	chr12:74047075-74047076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184267162	chr12:74047132-74047133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533027240	chr12:74047136-74047137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549647347	chr12:74047183-74047184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2586917	chr12:74047190-74047191	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535338024	chr12:74047205-74047206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189125201	chr12:74047236-74047237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549203460	chr12:74047237-74047238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553869106	chr12:74047263-74047264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139221129	chr12:74047270-74047271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191645098	chr12:74047283-74047284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558162108	chr12:74047293-74047294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73336042	chr12:74047294-74047295	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545734214	chr12:74047370-74047371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184810658	chr12:74047381-74047382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189270911	chr12:74047384-74047385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs60143991	chr12:74047406-74047407	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559533437	chr12:74047410-74047411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75210277	chr12:74047418-74047419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2586918	chr12:74047424-74047425	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572756045	chr12:74047446-74047447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564095560	chr12:74047475-74047476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs180952769	chr12:74047532-74047533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs34577858	chr12:74047551-74047552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs35492352	chr12:74047588-74047589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs60009854	chr12:74047589-74047590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75687823	chr12:74047590-74047591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549846674	chr12:74047599-74047600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs59306146	chr12:74047606-74047607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201917926	chr12:74047608-74047609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563190582	chr12:74047611-74047612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144023691	chr12:74047650-74047651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549164717	chr12:74047651-74047652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75421643	chr12:74047768-74047769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74046400-74047800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:74046600-74047400	ZNF genes & repeats	Brain Hippocampus Middle	brain
3	chr12:74046600-74048200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:74058000-74059200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:74059000-74059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:74059200-74059400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:74059600-74061000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:74061000-74061600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:74061600-74062600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:74064400-74065400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:74065000-74065400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:74065000-74066000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:74065000-74066000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:74065400-74065600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:74066000-74071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:74070800-74072200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:74071200-74072200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:74071200-74072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:74071200-74072600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:74071400-74072000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:74071600-74072000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:74071600-74072200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:74071600-74072200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:74071600-74072600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:74071800-74072600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:74072000-74072400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:74072200-74074800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:74074800-74075600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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