Variant report

Variant	esv2753966
Chromosome Location	chr12:10913111-10926489
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	ARID3A	chr12:10923738-10924091	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:10923755-10924078	K562	blood:	n/a	n/a
3	CEBPB	chr12:10923824-10924022	K562	blood:	n/a	n/a
4	CEBPB	chr12:10923790-10924074	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:10923782-10924041	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:10923810-10924073	A549	lung:	n/a	n/a
7	CTCF	chr12:10923780-10923930	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr12:10923840-10923990	GM12801	blood:	n/a	chr12:10923918-10923939
9	CTCF	chr12:10923860-10924010	HMF	breast:	n/a	chr12:10923918-10923939
10	CTCF	chr12:10923820-10923970	NHDF-neo	bronchial:	n/a	chr12:10923918-10923939
11	CTCF	chr12:10923840-10923990	HEK293	kidney:	n/a	chr12:10923918-10923939
12	CTCF	chr12:10923920-10924070	BE2_C	brain:	n/a	n/a
13	CTCF	chr12:10923810-10924038	K562	blood:	n/a	chr12:10923918-10923939
14	CTCF	chr12:10923800-10923950	WERI-Rb-1	eye:	n/a	chr12:10923918-10923939
15	CTCF	chr12:10923800-10923950	AG09309	skin:	n/a	chr12:10923918-10923939
16	CTCF	chr12:10923800-10923950	GM12865	blood:	n/a	chr12:10923918-10923939
17	CTCF	chr12:10923767-10924103	MCF-7	breast:	n/a	chr12:10923918-10923939
18	CTCF	chr12:10923800-10923950	HEEpiC	esophagus:	n/a	chr12:10923918-10923939
19	CTCF	chr12:10923880-10924030	RPTEC	kidney:	n/a	chr12:10923918-10923939
20	CTCF	chr12:10923800-10923950	GM12878	blood:	n/a	chr12:10923918-10923939
21	CTCF	chr12:10923800-10924047	A549	lung:	n/a	chr12:10923918-10923939
22	CTCF	chr12:10923840-10923990	GM12866	blood:	n/a	chr12:10923918-10923939
23	CTCF	chr12:10923831-10924016	Kidney_OC	kidney:	n/a	chr12:10923918-10923939
24	CTCF	chr12:10923880-10924030	K562	blood:	n/a	chr12:10923918-10923939
25	CTCF	chr12:10923800-10923950	BJ	skin:	n/a	chr12:10923918-10923939
26	CTCF	chr12:10923795-10924049	Lung_OC	lung:	n/a	chr12:10923918-10923939
27	CTCF	chr12:10923782-10924001	SK-N-SH_RA	brain:	n/a	chr12:10923918-10923939
28	CTCF	chr12:10923834-10923992	GM13976	blood:	n/a	chr12:10923918-10923939
29	CTCF	chr12:10923880-10924030	GM12874	blood:	n/a	chr12:10923918-10923939
30	CTCF	chr12:10920560-10920710	GM12873	blood:	n/a	n/a
31	CTCF	chr12:10923760-10923910	HCT-116	colon:	n/a	n/a
32	CTCF	chr12:10923800-10923950	NHDF-neo	bronchial:	n/a	chr12:10923918-10923939
33	CTCF	chr12:10923800-10923950	GM12867	blood:	n/a	chr12:10923918-10923939
34	CTCF	chr12:10923820-10923970	GM12873	blood:	n/a	chr12:10923918-10923939
35	CTCF	chr12:10923739-10924032	ECC-1	luminal epithelium:	n/a	chr12:10923918-10923939
36	CTCF	chr12:10923840-10923990	SK-N-SH_RA	brain:	n/a	chr12:10923918-10923939
37	CTCF	chr12:10923860-10924010	BE2_C	brain:	n/a	chr12:10923918-10923939
38	CTCF	chr12:10923840-10923990	HMEC	breast:	n/a	chr12:10923918-10923939
39	CTCF	chr12:10923820-10923970	HEEpiC	esophagus:	n/a	chr12:10923918-10923939
40	CTCF	chr12:10923800-10923950	HA-sp	spinal cord:	n/a	chr12:10923918-10923939
41	CTCF	chr12:10923700-10923850	NHLF	lung:	n/a	n/a
42	CTCF	chr12:10923880-10924030	GM12872	blood:	n/a	chr12:10923918-10923939
43	CTCF	chr12:10923775-10924072	HUVEC	blood vessel:	n/a	chr12:10923918-10923939
44	CTCF	chr12:10923800-10923950	HL-60	blood:	n/a	chr12:10923918-10923939
45	CTCF	chr12:10923740-10924009	K562	blood:	n/a	chr12:10923918-10923939
46	CTCF	chr12:10923820-10923970	AG09319	gingival:	n/a	chr12:10923918-10923939
47	CTCF	chr12:10923800-10923950	HepG2	liver:	n/a	chr12:10923918-10923939
48	CTCF	chr12:10923840-10923990	SAEC	small airway:	n/a	chr12:10923918-10923939
49	CTCF	chr12:10923880-10924030	HCM	heart:	n/a	chr12:10923918-10923939
50	CTCF	chr12:10923800-10923950	GM12871	blood:	n/a	chr12:10923918-10923939

No.	Distal block	Cell Line	Cell type
1	chr12:10923421..10924942-chr12:11638999..11640209,11	K562	blood:
2	chr10:44305858..44306365-chr12:10923506..10924325,2	MCF-7	breast:
3	chr12:10923706..10924220-chr12:11352723..11353239,2	K562	blood:
4	chr12:10923804..10924411-chr12:11352563..11353080,2	MCF-7	breast:
5	chr12:10923485..10924800-chr12:11352236..11353220,4	MCF-7	breast:
6	chr12:10923458..10924277-chr12:11707052..11707592,2	K562	blood:
7	chr12:10923542..10924154-chr12:11639667..11640247,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRH2-1	chr12:10921992-10922045	ENSG00000256888
2	lnc-PRH2-1	chr12:10921992-10922045	ENSG00000256888
3	lnc-PRH2-1	chr12:10922020-10922045	ENSG00000256888
4	lnc-PRH2-3	chr12:10922904-10923204	NONHSAT026901

Variant related genes	Relation type
HSPE1P12	TF binding region
ENSG00000256888	TF binding region
ENSG00000255790	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6488325	chr12:10913111-10913112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539895636	chr12:10913119-10913120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77267449	chr12:10913130-10913131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76918385	chr12:10913141-10913142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145416693	chr12:10913234-10913235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555765606	chr12:10913276-10913277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111275535	chr12:10913327-10913328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117496883	chr12:10913338-10913339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116808616	chr12:10913354-10913355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113685880	chr12:10913396-10913397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574706361	chr12:10917018-10917019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11053946	chr12:10917031-10917032	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567967733	chr12:10917032-10917033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192444667	chr12:10917050-10917051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562192106	chr12:10917057-10917058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184491867	chr12:10917066-10917067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74063041	chr12:10917077-10917078	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113702352	chr12:10917135-10917136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11053947	chr12:10917136-10917137	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188746447	chr12:10917158-10917159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372443847	chr12:10917190-10917191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78318727	chr12:10917728-10917729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554786264	chr12:10917749-10917750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557482284	chr12:10920569-10920570	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs560807649	chr12:10920628-10920629	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs183089504	chr12:10920683-10920684	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs140749277	chr12:10922011-10922012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181954026	chr12:10922034-10922035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs536434976	chr12:10922836-10922837	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs189165397	chr12:10922844-10922845	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs576127035	chr12:10922873-10922874	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs545176292	chr12:10922890-10922891	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs558873996	chr12:10922892-10922893	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs10845211	chr12:10922948-10922949	Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs16923826	chr12:10922971-10922972	Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114387641	chr12:10922982-10922983	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530055936	chr12:10923006-10923007	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs543637389	chr12:10923014-10923015	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs115522523	chr12:10923028-10923029	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs11053963	chr12:10923060-10923061	Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139410417	chr12:10923103-10923104	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs181697032	chr12:10923116-10923117	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs528053680	chr12:10923125-10923126	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs574100516	chr12:10923146-10923147	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs115630594	chr12:10923178-10923179	Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
46	rs11053964	chr12:10923441-10923442	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148205579	chr12:10923447-10923448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374527935	chr12:10923448-10923449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186916546	chr12:10923509-10923510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569926514	chr12:10923525-10923526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10912800-10913400	Enhancers	Fetal Intestine Small	intestine
2	chr12:10917000-10917200	ZNF genes & repeats	Aorta	Aorta
3	chr12:10922800-10923200	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr12:10924800-10925400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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