Variant report

Variant	esv1807929
Chromosome Location	chr12:11544695-11568695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:11550382-11550647	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:11550359-11550619	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:11545775-11545832	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:11552280-11552316	GM13977	blood:	n/a	n/a
5	CTCF	chr12:11545730-11545872	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:11545671-11545700	GM10266	blood:	n/a	n/a
7	CTCF	chr12:11549867-11549930	GM13976	blood:	n/a	n/a
8	CTCF	chr12:11545806-11545841	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:11548407-11548506	Lung_OC	lung:	n/a	n/a
10	CTCF	chr12:11548021-11548061	LNCaP	prostate:	n/a	n/a
11	CTCF	chr12:11545778-11545816	GM12891	blood:	n/a	n/a
12	CTCF	chr12:11545746-11545856	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:11566785-11566861	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr12:11557353-11557374	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr12:11557375-11557427	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr12:11544846-11544963	GM13976	blood:	n/a	n/a
17	CTCF	chr12:11556054-11556104	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr12:11545750-11545873	GM13977	blood:	n/a	n/a
19	FOS	chr12:11544489-11544699	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:11544409-11544699	MCF10A-Er-Src	breast:	n/a	n/a
21	GABPA	chr12:11545924-11546054	HepG2	liver:	n/a	n/a
22	GABPA	chr12:11546110-11546229	HepG2	liver:	n/a	n/a
23	GABPA	chr12:11546703-11546821	HepG2	liver:	n/a	n/a
24	MAFF	chr12:11557107-11557392	HepG2	liver:	n/a	n/a
25	MAFF	chr12:11566143-11566371	HepG2	liver:	n/a	n/a
26	MAFF	chr12:11557198-11557306	K562	blood:	n/a	n/a
27	MAFK	chr12:11566196-11566453	IMR90	lung:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
28	MAFK	chr12:11566124-11566425	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
29	MAFK	chr12:11564921-11565090	HepG2	liver:	n/a	n/a
30	MAFK	chr12:11557085-11557418	HepG2	liver:	n/a	chr12:11557239-11557259
31	MAFK	chr12:11557108-11557399	HepG2	liver:	n/a	chr12:11557239-11557259
32	MAFK	chr12:11566208-11566341	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
33	NFYB	chr12:11564593-11565166	K562	blood:	n/a	n/a
34	NFYB	chr12:11564669-11565138	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:11545912-11546064	ProgFib	skin:	n/a	n/a
36	POLR2A	chr12:11545750-11545951	A549	lung:	n/a	n/a
37	POLR2A	chr12:11561676-11561762	K562	blood:	n/a	n/a
38	POLR2A	chr12:11544231-11544805	HUVEC	blood vessel:	n/a	n/a
39	SP1	chr12:11564703-11565083	GM12878	blood:	n/a	n/a
40	SPI1	chr12:11550341-11550670	HL-60	blood:	n/a	chr12:11550526-11550535
41	STAT3	chr12:11554261-11554450	MCF10A-Er-Src	breast:	n/a	chr12:11554322-11554330
42	STAT3	chr12:11566012-11566097	MCF10A-Er-Src	breast:	n/a	n/a
43	TAF1	chr12:11545876-11546894	HepG2	liver:	n/a	n/a
44	TCF7L2	chr12:11565728-11565985	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11549555-11549605	SAEC	small airway:	n/a
2	chr12:11549555-11549605	HMEC	breast:	n/a
3	chr12:11549555-11549605	NB4	blood:	n/a
4	chr12:11548019-11548069	HNPCEpiC	eye:	n/a
5	chr12:11549192-11549242	SK-N-SH_RA	brain:	n/a
6	chr12:11549192-11549242	NH-A	brain:	n/a
7	chr12:11548867-11548917	AG10803	skin:	n/a
8	chr12:11549192-11549242	LNCaP	prostate:	n/a
9	chr12:11549192-11549242	HIPEpiC	eye:	n/a
10	chr12:11548867-11548917	Caco-2	colon:	n/a
11	chr12:11549192-11549242	HL-60	blood:	n/a
12	chr12:11548867-11548917	HMEC	breast:	n/a
13	chr12:11549555-11549605	HL-60	blood:	n/a
14	chr12:11548019-11548069	HEEpiC	esophagus:	n/a
15	chr12:11548019-11548069	HUVEC	blood vessel:	n/a
16	chr12:11549555-11549605	HepG2	liver:	n/a
17	chr12:11549192-11549242	AG09319	gingival:	n/a
18	chr12:11549555-11549605	CMK	blood:	n/a
19	chr12:11548019-11548069	GM12878	blood:	n/a
20	chr12:11549555-11549605	AG04450	lung:	fetal
21	chr12:11549192-11549242	RPTEC	kidney:	n/a
22	chr12:11549555-11549605	HRE	kidney:	n/a
23	chr12:11549555-11549605	AG09319	gingival:	n/a
24	chr12:11548867-11548917	ProgFib	skin:	n/a
25	chr12:11549555-11549605	NHDF-neo	bronchial:	n/a
26	chr12:11549555-11549605	AG10803	skin:	n/a
27	chr12:11548019-11548069	HCPEpiC	choroid plexus:	n/a
28	chr12:11548019-11548069	NH-A	brain:	n/a
29	chr12:11549555-11549605	AoSMC	blood vessel:	n/a
30	chr12:11548019-11548069	AG09319	gingival:	n/a
31	chr12:11549555-11549605	ECC-1	luminal epithelium:	n/a
32	chr12:11549555-11549605	ProgFib	skin:	n/a
33	chr12:11548867-11548917	AG04450	lung:	fetal
34	chr12:11548019-11548069	HRPEpiC	eye:	n/a
35	chr12:11548867-11548917	LNCaP	prostate:	n/a
36	chr12:11549555-11549605	HIPEpiC	eye:	n/a
37	chr12:11549192-11549242	NT2-D1	testis:	n/a
38	chr12:11549555-11549605	NH-A	brain:	n/a
39	chr12:11549192-11549242	HCF	heart:	n/a
40	chr12:11549192-11549242	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:11548019-11548069	HL-60	blood:	n/a
42	chr12:11549192-11549242	MCF-7	breast:	n/a
43	chr12:11549192-11549242	IMR90	lung:	fetal
44	chr12:11549192-11549242	AG10803	skin:	n/a
45	chr12:11549192-11549242	HEEpiC	esophagus:	n/a
46	chr12:11548019-11548069	ProgFib	skin:	n/a
47	chr12:11548867-11548917	Jurkat	blood:	n/a
48	chr12:11549555-11549605	HAEpiC	amniotic membrane:	n/a
49	chr12:11549555-11549605	NHBE	bronchial:	n/a
50	chr12:11549192-11549242	Caco-2	colon:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB1-1	chr12:11554419-11554457	ENSG00000255790.1
2	lnc-PRB1-1	chr12:11559632-11559826	ENSG00000255790.1
3	lnc-PRB1-1	chr12:11552784-11552937	ENSG00000255790.1
4	lnc-PRB1-1	chr12:11552315-11552411	ENSG00000255790.1

No data

Variant related genes	Relation type
PRB2	TF binding region
PRB1	TF binding region
PRB2	CpG island
PRB1	CpG island

Extended variants
information (count: 1436 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376356545	chr12:11544696-11544697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74060779	chr12:11544700-11544701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562573207	chr12:11544789-11544790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529843501	chr12:11544795-11544796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541649115	chr12:11544809-11544810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3983891	chr12:11544819-11544820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527571468	chr12:11544902-11544903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140670752	chr12:11545095-11545096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144620679	chr12:11545126-11545127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552467166	chr12:11545606-11545607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570478412	chr12:11545661-11545662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531609906	chr12:11545666-11545667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374303616	chr12:11545741-11545742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568214885	chr12:11545743-11545744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535988117	chr12:11545780-11545781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554049955	chr12:11545786-11545787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566283336	chr12:11545877-11545878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539707080	chr12:11545900-11545901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376320930	chr12:11545906-11545907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370148458	chr12:11545913-11545914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374448882	chr12:11545914-11545915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200138685	chr12:11545919-11545920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371867180	chr12:11545921-11545922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200906432	chr12:11545931-11545932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367985797	chr12:11545933-11545934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576860664	chr12:11545934-11545935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371851266	chr12:11545935-11545936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367874175	chr12:11545937-11545938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199917918	chr12:11545942-11545943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201549799	chr12:11545943-11545944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201057151	chr12:11545944-11545945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185711312	chr12:11545953-11545954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200026492	chr12:11545954-11545955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200510401	chr12:11545961-11545962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375050877	chr12:11545964-11545965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560061246	chr12:11545976-11545977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538733280	chr12:11545978-11545979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377197500	chr12:11545990-11545991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527497030	chr12:11545992-11545993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370021759	chr12:11545993-11545994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374100662	chr12:11545994-11545995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75059624	chr12:11545995-11545996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545655808	chr12:11546014-11546015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376831456	chr12:11546018-11546019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201391404	chr12:11546023-11546024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201001689	chr12:11546036-11546037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201848322	chr12:11546040-11546041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368880039	chr12:11546058-11546059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77906063	chr12:11546062-11546063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568468055	chr12:11546063-11546064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11544000-11544800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:11544000-11544800	Enhancers	HUVEC	blood vessel
3	chr12:11544800-11550000	Weak transcription	HUVEC	blood vessel
4	chr12:11544800-11550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:11550000-11550600	Enhancers	HUVEC	blood vessel
6	chr12:11550000-11550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:11550000-11551000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:11550200-11550800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:11550200-11550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:11550200-11551000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:11550800-11551600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11550800-11568400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:11551600-11551800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:11560600-11561800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:11561000-11561600	Enhancers	HMEC	breast
16	chr12:11561000-11561800	Enhancers	NHEK	skin
17	chr12:11561800-11563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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