Variant report

Variant	esv2752624
Chromosome Location	chr12:73604504-73684588
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	BACH1	chr12:73659989-73660056	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr12:73674955-73675114	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:73648030-73648338	HepG2	liver:	n/a	chr12:73648177-73648188
4	CEBPB	chr12:73648048-73648331	IMR90	lung:	n/a	chr12:73648177-73648188
5	CEBPB	chr12:73668781-73669116	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr12:73625227-73625427	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:73604466-73604719	A549	lung:	n/a	n/a
8	CEBPB	chr12:73662203-73662444	A549	lung:	n/a	n/a
9	CEBPB	chr12:73668625-73669240	HCT-116	colon:	n/a	n/a
10	CEBPB	chr12:73668666-73669194	HCT-116	colon:	n/a	n/a
11	CEBPB	chr12:73625302-73625569	HepG2	liver:	n/a	chr12:73625438-73625449
12	CEBPB	chr12:73675291-73675597	A549	lung:	n/a	chr12:73675452-73675463
13	CEBPB	chr12:73675358-73675635	HepG2	liver:	n/a	chr12:73675452-73675463
14	CEBPB	chr12:73648046-73648353	A549	lung:	n/a	chr12:73648177-73648188
15	CEBPB	chr12:73675315-73675623	IMR90	lung:	n/a	chr12:73675452-73675463
16	CTCF	chr12:73657960-73658110	GM12870	blood:	n/a	n/a
17	CTCF	chr12:73649582-73649672	Lung_OC	lung:	n/a	n/a
18	CTCF	chr12:73664160-73664310	A549	lung:	n/a	n/a
19	CTCF	chr12:73642620-73642770	GM12878	blood:	n/a	n/a
20	CTCF	chr12:73663377-73663419	Fibrobl	skin:	n/a	n/a
21	E2F4	chr12:73619024-73619135	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr12:73627385-73627553	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr12:73642866-73642950	GM12878	blood:	n/a	chr12:73642905-73642916
24	EP300	chr12:73619195-73619571	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr12:73619255-73619560	SK-N-SH_RA	brain:	n/a	n/a
26	FOS	chr12:73620513-73620748	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr12:73670955-73671306	MCF10A-Er-Src	breast:	n/a	chr12:73671110-73671117
28	FOS	chr12:73668438-73669165	MCF10A-Er-Src	breast:	n/a	chr12:73668978-73668987 chr12:73668974-73668985
29	FOS	chr12:73670910-73671249	MCF10A-Er-Src	breast:	n/a	chr12:73671110-73671117
30	FOS	chr12:73620539-73620739	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:73674790-73675109	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr12:73631901-73632021	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr12:73671729-73672169	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr12:73619785-73619928	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr12:73619784-73619973	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr12:73668464-73669312	MCF10A-Er-Src	breast:	n/a	chr12:73668978-73668987 chr12:73668974-73668985
37	FOS	chr12:73674825-73675063	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr12:73671727-73671919	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:73620462-73620791	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr12:73631835-73632119	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr12:73668787-73669140	MCF10A-Er-Src	breast:	n/a	chr12:73668978-73668987 chr12:73668974-73668985
42	FOS	chr12:73670972-73671279	MCF10A-Er-Src	breast:	n/a	chr12:73671110-73671117
43	FOS	chr12:73670973-73671284	MCF10A-Er-Src	breast:	n/a	chr12:73671110-73671117
44	FOS	chr12:73675429-73675554	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:73674814-73675109	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:73620501-73620779	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr12:73674808-73675150	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:73614698-73615081	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr12:73668468-73669145	MCF10A-Er-Src	breast:	n/a	chr12:73668978-73668987 chr12:73668974-73668985
50	FOS	chr12:73614776-73615101	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:73620754..73622462-chr12:73626196..73628028,2	K562	blood:
2	chr12:73655095..73657152-chr20:52197004..52199032,2	MCF-7	breast:
3	chr12:73620754..73622462-chr12:73626196..73628028,2	K562	blood:
4	chr12:73655588..73656464-chr16:85628476..85629004,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-4	chr12:73605192-73605293	ENSG00000258109

Variant related genes	Relation type
ENSG00000257682	TF binding region
SUN2	miRNA target sites

Extended variants
information (count: 969 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17112144	chr12:73604504-73604505	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547274665	chr12:73604536-73604537	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559325493	chr12:73604554-73604555	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186012706	chr12:73604613-73604614	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189161800	chr12:73604643-73604644	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs114603275	chr12:73604652-73604653	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181116939	chr12:73604673-73604674	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs35528047	chr12:73604717-73604718	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549029617	chr12:73604718-73604719	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567257340	chr12:73604750-73604751	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536197489	chr12:73604786-73604787	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554505783	chr12:73604787-73604788	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566196540	chr12:73604790-73604791	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540033943	chr12:73604798-73604799	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112450581	chr12:73604815-73604816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576503593	chr12:73604859-73604860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561185646	chr12:73604863-73604864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543489123	chr12:73604885-73604886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543342409	chr12:73604950-73604951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573688035	chr12:73604955-73604956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543775813	chr12:73604991-73604992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540973238	chr12:73604994-73604995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531577404	chr12:73605199-73605200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs530660004	chr12:73605250-73605251	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs139084998	chr12:73605286-73605287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs550962339	chr12:73614419-73614420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569198645	chr12:73614434-73614435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185687133	chr12:73614486-73614487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550684360	chr12:73614489-73614490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566647700	chr12:73614598-73614599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370258923	chr12:73614606-73614607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558232447	chr12:73614620-73614621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151316657	chr12:73614646-73614647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190404173	chr12:73614761-73614762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182237190	chr12:73614763-73614764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575883689	chr12:73614828-73614829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570417136	chr12:73614855-73614856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139421033	chr12:73614896-73614897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146514411	chr12:73614927-73614928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145337735	chr12:73614939-73614940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17112154	chr12:73614948-73614949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113941004	chr12:73614976-73614977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74105715	chr12:73614997-73614998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565397777	chr12:73615003-73615004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532626324	chr12:73615016-73615017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546231716	chr12:73615019-73615020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566779389	chr12:73615046-73615047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551025478	chr12:73615063-73615064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562851874	chr12:73615103-73615104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529982997	chr12:73615109-73615110	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73604200-73604800	Flanking Active TSS	Liver	Liver
2	chr12:73604800-73605000	Enhancers	Liver	Liver
3	chr12:73614400-73615600	Enhancers	Liver	Liver
4	chr12:73615600-73619800	Weak transcription	Liver	Liver
5	chr12:73619400-73619600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:73619800-73620600	Enhancers	Liver	Liver
7	chr12:73620400-73620800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:73622000-73625400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:73625400-73625600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:73625800-73626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:73626000-73626200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:73626200-73628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:73628200-73628600	ZNF genes & repeats	Liver	Liver
14	chr12:73628200-73628800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:73628800-73629600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:73629200-73629600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:73637200-73637600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:73637400-73638000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:73637800-73638200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:73656000-73657800	Enhancers	Liver	Liver
21	chr12:73656800-73657200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:73660200-73660400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr12:73668400-73669200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:73668600-73669000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:73668800-73669000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:73669000-73678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:73669600-73670600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:73670400-73670600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:73671200-73672600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:73671600-73672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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