Variant report

Variant	esv1795114
Chromosome Location	chr12:11551965-11568895
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	CTCF	chr12:11566785-11566861	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr12:11552280-11552316	GM13977	blood:	n/a	n/a
3	CTCF	chr12:11556054-11556104	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr12:11568873-11568951	LNCaP	prostate:	n/a	n/a
5	CTCF	chr12:11557375-11557427	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr12:11557353-11557374	Spleen_OC	spleen:	n/a	n/a
7	MAFF	chr12:11566143-11566371	HepG2	liver:	n/a	n/a
8	MAFF	chr12:11557198-11557306	K562	blood:	n/a	n/a
9	MAFF	chr12:11557107-11557392	HepG2	liver:	n/a	n/a
10	MAFK	chr12:11566196-11566453	IMR90	lung:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
11	MAFK	chr12:11566124-11566425	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
12	MAFK	chr12:11557085-11557418	HepG2	liver:	n/a	chr12:11557239-11557259
13	MAFK	chr12:11557108-11557399	HepG2	liver:	n/a	chr12:11557239-11557259
14	MAFK	chr12:11564921-11565090	HepG2	liver:	n/a	n/a
15	MAFK	chr12:11566208-11566341	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
16	NFYB	chr12:11564669-11565138	GM12878	blood:	n/a	n/a
17	NFYB	chr12:11564593-11565166	K562	blood:	n/a	n/a
18	POLR2A	chr12:11561676-11561762	K562	blood:	n/a	n/a
19	SP1	chr12:11564703-11565083	GM12878	blood:	n/a	n/a
20	STAT3	chr12:11566012-11566097	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr12:11554261-11554450	MCF10A-Er-Src	breast:	n/a	chr12:11554322-11554330
22	TCF7L2	chr12:11565728-11565985	HepG2	liver:	n/a	n/a

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

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

Extended variants
information (count: 964 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:964 , 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	rs374299352	chr12:11551965-11551966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556824112	chr12:11552037-11552038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147112240	chr12:11552038-11552039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138595643	chr12:11552063-11552064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554630715	chr12:11552077-11552078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141816396	chr12:11552078-11552079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546057562	chr12:11552081-11552082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564886160	chr12:11552082-11552083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186107150	chr12:11552089-11552090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544121735	chr12:11552096-11552097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562799727	chr12:11552119-11552120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73285502	chr12:11552120-11552121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560610562	chr12:11552190-11552191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139741205	chr12:11552206-11552207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560131377	chr12:11552222-11552223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190520367	chr12:11552230-11552231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552255748	chr12:11552244-11552245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182790813	chr12:11552254-11552255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538423399	chr12:11552256-11552257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373497228	chr12:11552265-11552266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186408383	chr12:11552281-11552282	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs536186893	chr12:11552288-11552289	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs554567419	chr12:11552303-11552304	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs377309358	chr12:11552316-11552317	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs149371346	chr12:11552319-11552320	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs533833647	chr12:11552327-11552328	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs558612931	chr12:11552340-11552341	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs576914196	chr12:11552341-11552342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544374531	chr12:11552362-11552363	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs576320045	chr12:11552382-11552383	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs191362678	chr12:11552431-11552432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574355982	chr12:11552434-11552435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541744568	chr12:11552460-11552461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560068671	chr12:11552509-11552510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146342518	chr12:11552514-11552515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116162443	chr12:11552551-11552552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74856833	chr12:11552619-11552620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112231101	chr12:11552620-11552621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550331168	chr12:11552656-11552657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139913616	chr12:11552662-11552663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182683512	chr12:11552696-11552697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60223611	chr12:11552742-11552743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116746089	chr12:11552744-11552745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533769924	chr12:11552756-11552757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558298257	chr12:11552771-11552772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112965280	chr12:11552785-11552786	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs143426947	chr12:11552786-11552787	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs374655415	chr12:11552793-11552794	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs556296479	chr12:11552794-11552795	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs117342112	chr12:11552797-11552798	Weak transcription	lncRNA	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11550800-11568400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:11560600-11561800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:11561000-11561600	Enhancers	HMEC	breast
4	chr12:11561000-11561800	Enhancers	NHEK	skin
5	chr12:11561800-11563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:11568800-11569200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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