Variant report

Variant	esv2421975
Chromosome Location	chr12:11457713-11467455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:11457994-11458258	A549	lung:	n/a	chr12:11458153-11458164
2	CEBPB	chr12:11458075-11458297	HepG2	liver:	n/a	chr12:11458153-11458164
3	CTCF	chr12:11459054-11459110	GM20000	blood:	n/a	n/a
4	EP300	chr12:11457689-11457748	K562	blood:	n/a	n/a
5	FOS	chr12:11460127-11460404	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
6	FOS	chr12:11460203-11460389	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
7	FOS	chr12:11460090-11460325	HUVEC	blood vessel:	n/a	chr12:11460246-11460255
8	FOS	chr12:11460112-11460390	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
9	JUND	chr12:11467222-11467234	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:11460768-11460894	ProgFib	skin:	n/a	n/a
11	RCOR1	chr12:11463442-11463473	K562	blood:	n/a	n/a
12	STAT3	chr12:11464583-11464597	MCF10A-Er-Src	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11463379-11463429	HEEpiC	esophagus:	n/a
2	chr12:11461798-11461848	GM12892	blood:	n/a
3	chr12:11464607-11464657	AoSMC	blood vessel:	n/a
4	chr12:11463379-11463429	ProgFib	skin:	n/a
5	chr12:11463379-11463429	AoSMC	blood vessel:	n/a
6	chr12:11464607-11464657	MCF-7	breast:	n/a
7	chr12:11463844-11463894	GM12892	blood:	n/a
8	chr12:11460710-11460760	GM12891	blood:	n/a
9	chr12:11463379-11463429	NHDF-neo	bronchial:	n/a
10	chr12:11463844-11463894	Caco-2	colon:	n/a
11	chr12:11460710-11460760	Hepatocyte	liver:	n/a
12	chr12:11464607-11464657	HCF	heart:	n/a
13	chr12:11463937-11463987	SK-N-SH_RA	brain:	n/a
14	chr12:11463844-11463894	NT2-D1	testis:	n/a
15	chr12:11463379-11463429	GM12891	blood:	n/a
16	chr12:11460710-11460760	ovcar-3	ovarian:	n/a
17	chr12:11461798-11461848	HepG2	liver:	n/a
18	chr12:11463937-11463987	IMR90	lung:	fetal
19	chr12:11463844-11463894	NHDF-neo	bronchial:	n/a
20	chr12:11463937-11463987	MCF10A-Er-Src	breast:	n/a
21	chr12:11461798-11461848	AG09309	skin:	n/a
22	chr12:11464607-11464657	ovcar-3	ovarian:	n/a
23	chr12:11460710-11460760	Jurkat	blood:	n/a
24	chr12:11460710-11460760	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:11463379-11463429	HepG2	liver:	n/a
26	chr12:11463379-11463429	ovcar-3	ovarian:	n/a
27	chr12:11463379-11463429	NB4	blood:	n/a
28	chr12:11464607-11464657	SAEC	small airway:	n/a
29	chr12:11464607-11464657	ProgFib	skin:	n/a
30	chr12:11461798-11461848	SK-N-SH	brain:	n/a
31	chr12:11464607-11464657	HCT-116	colon:	n/a
32	chr12:11464607-11464657	NH-A	brain:	n/a
33	chr12:11463379-11463429	HCPEpiC	choroid plexus:	n/a
34	chr12:11460710-11460760	NHDF-neo	bronchial:	n/a
35	chr12:11461798-11461848	Hepatocyte	liver:	n/a
36	chr12:11463379-11463429	HRE	kidney:	n/a
37	chr12:11463937-11463987	AoSMC	blood vessel:	n/a
38	chr12:11463937-11463987	NH-A	brain:	n/a
39	chr12:11464607-11464657	SKMC	muscle:	n/a
40	chr12:11463937-11463987	H1-hESC	embryonic stem cell:	embryo
41	chr12:11463844-11463894	GM06990	blood:	n/a
42	chr12:11463937-11463987	AG09319	gingival:	n/a
43	chr12:11460710-11460760	HAEpiC	amniotic membrane:	n/a
44	chr12:11464607-11464657	Jurkat	blood:	n/a
45	chr12:11463844-11463894	ovcar-3	ovarian:	n/a
46	chr12:11461798-11461848	PANC-1	pancreas:	n/a
47	chr12:11461798-11461848	Jurkat	blood:	n/a
48	chr12:11460710-11460760	HUVEC	blood vessel:	n/a
49	chr12:11463379-11463429	IMR90	lung:	fetal
50	chr12:11463937-11463987	HepG2	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB4-1	chr12:11463270-11463369	NONHSAT026935
2	lnc-PRB4-1	chr12:11462305-11462339	NONHSAT026935
3	lnc-PRB4-1	chr12:11461162-11461375	NONHSAT026935
4	lnc-PRB4-1	chr12:11461584-11461816	NONHSAT026935

No data

Variant related genes	Relation type
PRB4	TF binding region
PRB4	CpG island

Extended variants
information (count: 191 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1427751	chr12:11460231-11460232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1863843	chr12:11460257-11460258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548772551	chr12:11460326-11460327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548089769	chr12:11460328-11460329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571019605	chr12:11460366-11460367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537566782	chr12:11460389-11460390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149101469	chr12:11460396-11460397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571181141	chr12:11460470-11460471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72477466	chr12:11460471-11460472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2900128	chr12:11460475-11460476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115993427	chr12:11460478-11460479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186260950	chr12:11460549-11460550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556016658	chr12:11460577-11460578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575872410	chr12:11460672-11460673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544408212	chr12:11460679-11460680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556189009	chr12:11460687-11460688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558231044	chr12:11460705-11460706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577990203	chr12:11460711-11460712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540633819	chr12:11460712-11460713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576020336	chr12:11460713-11460714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377666404	chr12:11460738-11460739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542481755	chr12:11460743-11460744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112885101	chr12:11460792-11460793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189063606	chr12:11460795-11460796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200327304	chr12:11461178-11461179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs374451714	chr12:11461188-11461189	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs75004563	chr12:11461190-11461191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs146162362	chr12:11461217-11461218	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs576626342	chr12:11461218-11461219	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs77514395	chr12:11461223-11461224	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs371842116	chr12:11461228-11461229	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs375278204	chr12:11461241-11461242	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs574597591	chr12:11461259-11461260	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs141102420	chr12:11461272-11461273	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs368003440	chr12:11461282-11461283	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs372237042	chr12:11461285-11461286	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs1052808	chr12:11461292-11461293	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562435920	chr12:11461301-11461302	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs146939904	chr12:11461302-11461303	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs139306953	chr12:11461308-11461309	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs145416694	chr12:11461337-11461338	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs377238841	chr12:11461341-11461342	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564883667	chr12:11461346-11461347	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201691090	chr12:11461347-11461348	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs547141690	chr12:11461357-11461358	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs567304413	chr12:11461358-11461359	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs529711200	chr12:11461360-11461361	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs546117164	chr12:11461363-11461364	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs147670728	chr12:11461367-11461368	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs374921001	chr12:11461396-11461397	Enhancers	n/a	n/a	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11460200-11460800	Enhancers	HUVEC	blood vessel
2	chr12:11461200-11462200	Enhancers	Spleen	Spleen
3	chr12:11467000-11467200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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