Variant report

Variant	esv10096
Chromosome Location	chr12:11536297-11568893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:11538413-11538520	HepG2	liver:	n/a	chr12:11538466-11538477 chr12:11538464-11538475
2	CEBPB	chr12:11550359-11550619	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:11550382-11550647	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:11538442-11538474	A549	lung:	n/a	n/a
5	CTCF	chr12:11545750-11545873	GM13977	blood:	n/a	n/a
6	CTCF	chr12:11545671-11545700	GM10266	blood:	n/a	n/a
7	CTCF	chr12:11568873-11568951	LNCaP	prostate:	n/a	n/a
8	CTCF	chr12:11557353-11557374	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr12:11549867-11549930	GM13976	blood:	n/a	n/a
10	CTCF	chr12:11548021-11548061	LNCaP	prostate:	n/a	n/a
11	CTCF	chr12:11566785-11566861	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr12:11545746-11545856	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:11545806-11545841	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:11544846-11544963	GM13976	blood:	n/a	n/a
15	CTCF	chr12:11557375-11557427	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr12:11545775-11545832	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:11545730-11545872	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:11556054-11556104	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr12:11552280-11552316	GM13977	blood:	n/a	n/a
20	CTCF	chr12:11548407-11548506	Lung_OC	lung:	n/a	n/a
21	CTCF	chr12:11545778-11545816	GM12891	blood:	n/a	n/a
22	E2F4	chr12:11542959-11542990	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr12:11538676-11538692	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr12:11544405-11544693	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr12:11544489-11544699	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr12:11544409-11544699	MCF10A-Er-Src	breast:	n/a	n/a
27	GABPA	chr12:11546703-11546821	HepG2	liver:	n/a	n/a
28	GABPA	chr12:11546110-11546229	HepG2	liver:	n/a	n/a
29	GABPA	chr12:11545924-11546054	HepG2	liver:	n/a	n/a
30	MAFF	chr12:11557107-11557392	HepG2	liver:	n/a	n/a
31	MAFF	chr12:11557198-11557306	K562	blood:	n/a	n/a
32	MAFF	chr12:11566143-11566371	HepG2	liver:	n/a	n/a
33	MAFK	chr12:11566208-11566341	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
34	MAFK	chr12:11566196-11566453	IMR90	lung:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
35	MAFK	chr12:11557085-11557418	HepG2	liver:	n/a	chr12:11557239-11557259
36	MAFK	chr12:11557108-11557399	HepG2	liver:	n/a	chr12:11557239-11557259
37	MAFK	chr12:11564921-11565090	HepG2	liver:	n/a	n/a
38	MAFK	chr12:11566124-11566425	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
39	NFYB	chr12:11564593-11565166	K562	blood:	n/a	n/a
40	NFYB	chr12:11564669-11565138	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:11542111-11542210	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:11545750-11545951	A549	lung:	n/a	n/a
43	POLR2A	chr12:11561676-11561762	K562	blood:	n/a	n/a
44	POLR2A	chr12:11545912-11546064	ProgFib	skin:	n/a	n/a
45	POLR2A	chr12:11537052-11537098	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:11544231-11544805	HUVEC	blood vessel:	n/a	n/a
47	SP1	chr12:11564703-11565083	GM12878	blood:	n/a	n/a
48	SPI1	chr12:11550341-11550670	HL-60	blood:	n/a	chr12:11550526-11550535
49	STAT3	chr12:11554261-11554450	MCF10A-Er-Src	breast:	n/a	chr12:11554322-11554330
50	STAT3	chr12:11566012-11566097	MCF10A-Er-Src	breast:	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	chr12:11548867-11548917	Hepatocyte	liver:	n/a
2	chr12:11548867-11548917	PrEC	prostate:	n/a
3	chr12:11549555-11549605	A549	lung:	n/a
4	chr12:11548019-11548069	RPTEC	kidney:	n/a
5	chr12:11549555-11549605	HRPEpiC	eye:	n/a
6	chr12:11549192-11549242	K562	blood:	n/a
7	chr12:11549192-11549242	NHBE	bronchial:	n/a
8	chr12:11549192-11549242	AG04450	lung:	fetal
9	chr12:11549555-11549605	AG09309	skin:	n/a
10	chr12:11548867-11548917	Caco-2	colon:	n/a
11	chr12:11549555-11549605	HIPEpiC	eye:	n/a
12	chr12:11549555-11549605	SKMC	muscle:	n/a
13	chr12:11548019-11548069	IMR90	lung:	fetal
14	chr12:11549192-11549242	AoSMC	blood vessel:	n/a
15	chr12:11548867-11548917	HL-60	blood:	n/a
16	chr12:11548019-11548069	H1-hESC	embryonic stem cell:	embryo
17	chr12:11548867-11548917	GM19239	blood:	n/a
18	chr12:11549555-11549605	ECC-1	luminal epithelium:	n/a
19	chr12:11549192-11549242	AG09309	skin:	n/a
20	chr12:11548867-11548917	HNPCEpiC	eye:	n/a
21	chr12:11549192-11549242	Caco-2	colon:	n/a
22	chr12:11548019-11548069	AG04449	skin:	fetal
23	chr12:11548019-11548069	BE2_C	brain:	n/a
24	chr12:11549555-11549605	GM12892	blood:	n/a
25	chr12:11549555-11549605	Jurkat	blood:	n/a
26	chr12:11549192-11549242	HEK293	kidney:	embryo
27	chr12:11548867-11548917	Jurkat	blood:	n/a
28	chr12:11549192-11549242	BE2_C	brain:	n/a
29	chr12:11548867-11548917	AG04450	lung:	fetal
30	chr12:11549192-11549242	SK-N-MC	brain:	n/a
31	chr12:11549192-11549242	HepG2	liver:	n/a
32	chr12:11548019-11548069	NHBE	bronchial:	n/a
33	chr12:11549192-11549242	HCPEpiC	choroid plexus:	n/a
34	chr12:11548867-11548917	ovcar-3	ovarian:	n/a
35	chr12:11549192-11549242	ECC-1	luminal epithelium:	n/a
36	chr12:11548867-11548917	HepG2	liver:	n/a
37	chr12:11549192-11549242	HMEC	breast:	n/a
38	chr12:11548867-11548917	HCM	heart:	n/a
39	chr12:11548019-11548069	MCF-7	breast:	n/a
40	chr12:11549555-11549605	HEK293	kidney:	embryo
41	chr12:11548867-11548917	K562	blood:	n/a
42	chr12:11549555-11549605	Hela-S3	cervix:	n/a
43	chr12:11549555-11549605	Hepatocyte	liver:	n/a
44	chr12:11548867-11548917	U87	brain:	n/a
45	chr12:11548867-11548917	ECC-1	luminal epithelium:	n/a
46	chr12:11549555-11549605	HNPCEpiC	eye:	n/a
47	chr12:11549555-11549605	HCF	heart:	n/a
48	chr12:11548019-11548069	Hela-S3	cervix:	n/a
49	chr12:11549555-11549605	AG04449	skin:	fetal
50	chr12:11548867-11548917	GM12878	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB1-1	chr12:11552784-11552937	ENSG00000255790.1
2	lnc-PRB1-1	chr12:11552315-11552411	ENSG00000255790.1
3	lnc-PRB1-1	chr12:11554419-11554457	ENSG00000255790.1
4	lnc-PRB1-1	chr12:11559632-11559826	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: 1514 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1514 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190006426	chr12:11539247-11539248	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192700295	chr12:11539293-11539294	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149974582	chr12:11539310-11539311	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375963332	chr12:11539363-11539364	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548393545	chr12:11539385-11539386	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145207188	chr12:11539423-11539424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534075000	chr12:11539501-11539502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552212088	chr12:11539512-11539513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149146117	chr12:11539541-11539542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74878859	chr12:11539554-11539555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34092747	chr12:11539619-11539620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184595509	chr12:11539644-11539645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535595362	chr12:11539654-11539655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188099670	chr12:11539659-11539660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146522366	chr12:11539664-11539665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376717674	chr12:11539671-11539672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561906933	chr12:11539701-11539702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546440942	chr12:11539778-11539779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78868414	chr12:11539796-11539797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7960926	chr12:11544014-11544015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115474225	chr12:11544044-11544045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183495737	chr12:11544076-11544077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150130720	chr12:11544080-11544081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145575320	chr12:11544088-11544089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80255030	chr12:11544097-11544098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536519458	chr12:11544104-11544105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548203652	chr12:11544106-11544107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77009898	chr12:11544123-11544124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78790229	chr12:11544124-11544125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566816602	chr12:11544140-11544141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533943240	chr12:11544144-11544145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7954028	chr12:11544152-11544153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148883638	chr12:11544159-11544160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7979324	chr12:11544161-11544162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368351568	chr12:11544164-11544165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115406582	chr12:11544166-11544167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574713703	chr12:11544175-11544176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542478001	chr12:11544176-11544177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75490024	chr12:11544182-11544183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560633541	chr12:11544188-11544189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143594554	chr12:11544191-11544192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539846766	chr12:11544193-11544194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190811740	chr12:11544201-11544202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148070772	chr12:11544233-11544234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550713543	chr12:11544240-11544241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140796532	chr12:11544250-11544251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144606062	chr12:11544256-11544257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200690690	chr12:11544259-11544260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371800558	chr12:11544279-11544280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9651860	chr12:11544288-11544289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11539200-11539400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:11539400-11539800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:11544000-11544800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:11544000-11544800	Enhancers	HUVEC	blood vessel
5	chr12:11544800-11550000	Weak transcription	HUVEC	blood vessel
6	chr12:11544800-11550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11550000-11550600	Enhancers	HUVEC	blood vessel
8	chr12:11550000-11550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:11550000-11551000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:11550200-11550800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:11550200-11550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11550200-11551000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:11550800-11551600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:11550800-11568400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:11551600-11551800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:11560600-11561800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:11561000-11561600	Enhancers	HMEC	breast
18	chr12:11561000-11561800	Enhancers	NHEK	skin
19	chr12:11561800-11563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:11568800-11569200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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