Variant report

Variant	nsv8920
Chromosome Location	chr12:11458931-11494095
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	CEBPB	chr12:11478711-11479007	HepG2	liver:	n/a	chr12:11478828-11478841 chr12:11478830-11478839 chr12:11478828-11478839 chr12:11478829-11478840
2	CTCF	chr12:11492997-11493057	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:11459054-11459110	GM20000	blood:	n/a	n/a
4	CTCF	chr12:11490383-11490444	Kidney_OC	kidney:	n/a	n/a
5	FOS	chr12:11478749-11478969	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:11479242-11479565	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:11478732-11479038	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:11460127-11460404	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
9	FOS	chr12:11479244-11479459	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:11485095-11485281	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:11478729-11478997	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr12:11479259-11479477	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr12:11460090-11460325	HUVEC	blood vessel:	n/a	chr12:11460246-11460255
14	FOS	chr12:11460203-11460389	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
15	FOS	chr12:11479372-11479443	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr12:11485076-11485346	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr12:11485158-11485318	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:11460112-11460390	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
19	JUND	chr12:11467222-11467234	HepG2	liver:	n/a	n/a
20	JUND	chr12:11479292-11479506	HepG2	liver:	n/a	chr12:11479387-11479398
21	JUND	chr12:11493564-11493587	HepG2	liver:	n/a	n/a
22	MAFF	chr12:11477432-11477689	HepG2	liver:	n/a	chr12:11477553-11477567
23	MAFF	chr12:11477450-11477607	K562	blood:	n/a	chr12:11477553-11477567
24	MAFK	chr12:11477417-11477690	IMR90	lung:	n/a	chr12:11477550-11477570
25	MAFK	chr12:11477438-11477671	HepG2	liver:	n/a	chr12:11477550-11477570
26	MAFK	chr12:11477543-11477579	K562	blood:	n/a	chr12:11477550-11477570
27	MAFK	chr12:11477381-11477729	HepG2	liver:	n/a	chr12:11477550-11477570
28	MAFK	chr12:11477511-11477623	Hela-S3	cervix:	n/a	chr12:11477550-11477570
29	MAFK	chr12:11475339-11475480	HepG2	liver:	n/a	n/a
30	MAFK	chr12:11483109-11483222	HepG2	liver:	n/a	n/a
31	MYC	chr12:11478731-11478931	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr12:11474027-11474060	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr12:11474621-11474627	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:11460768-11460894	ProgFib	skin:	n/a	n/a
35	POLR2A	chr12:11469194-11469317	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:11483960-11484187	MCF10A-Er-Src	breast:	n/a	n/a
37	RCOR1	chr12:11463442-11463473	K562	blood:	n/a	n/a
38	REST	chr12:11469174-11469323	H1-hESC	embryonic stem cell:	n/a	n/a
39	RXRA	chr12:11469183-11469329	HepG2	liver:	n/a	n/a
40	SPI1	chr12:11471231-11471443	GM12878	blood:	n/a	n/a
41	SPI1	chr12:11471247-11471432	K562	blood:	n/a	n/a
42	SPI1	chr12:11471205-11471472	GM12891	blood:	n/a	n/a
43	SPI1	chr12:11476593-11476867	HL-60	blood:	n/a	n/a
44	SPI1	chr12:11471212-11471446	K562	blood:	n/a	n/a
45	STAT3	chr12:11485247-11485261	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr12:11485098-11485368	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr12:11464583-11464597	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr12:11479334-11479534	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424
49	STAT3	chr12:11479330-11479551	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424
50	STAT3	chr12:11479249-11479464	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11463379-11463429	Caco-2	colon:	n/a
2	chr12:11463379-11463429	NB4	blood:	n/a
3	chr12:11461798-11461848	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:11463937-11463987	HL-60	blood:	n/a
5	chr12:11463937-11463987	Hela-S3	cervix:	n/a
6	chr12:11463379-11463429	AoSMC	blood vessel:	n/a
7	chr12:11463379-11463429	NT2-D1	testis:	n/a
8	chr12:11463844-11463894	PANC-1	pancreas:	n/a
9	chr12:11460710-11460760	AG10803	skin:	n/a
10	chr12:11463844-11463894	HEEpiC	esophagus:	n/a
11	chr12:11463937-11463987	T-47D	breast:	n/a
12	chr12:11463937-11463987	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:11461798-11461848	BE2_C	brain:	n/a
14	chr12:11464607-11464657	HAEpiC	amniotic membrane:	n/a
15	chr12:11463379-11463429	NHDF-neo	bronchial:	n/a
16	chr12:11461798-11461848	AG04449	skin:	fetal
17	chr12:11463379-11463429	GM06990	blood:	n/a
18	chr12:11463937-11463987	SK-N-MC	brain:	n/a
19	chr12:11464607-11464657	GM06990	blood:	n/a
20	chr12:11464607-11464657	NH-A	brain:	n/a
21	chr12:11461798-11461848	NH-A	brain:	n/a
22	chr12:11463844-11463894	PFSK-1	brain:	n/a
23	chr12:11460710-11460760	NT2-D1	testis:	n/a
24	chr12:11460710-11460760	NB4	blood:	n/a
25	chr12:11461798-11461848	Hepatocyte	liver:	n/a
26	chr12:11464607-11464657	A549	lung:	n/a
27	chr12:11464607-11464657	GM12892	blood:	n/a
28	chr12:11460710-11460760	GM06990	blood:	n/a
29	chr12:11463844-11463894	PrEC	prostate:	n/a
30	chr12:11464607-11464657	NHDF-neo	bronchial:	n/a
31	chr12:11461798-11461848	Hela-S3	cervix:	n/a
32	chr12:11463844-11463894	HRPEpiC	eye:	n/a
33	chr12:11460710-11460760	GM12892	blood:	n/a
34	chr12:11464607-11464657	HCPEpiC	choroid plexus:	n/a
35	chr12:11464607-11464657	PFSK-1	brain:	n/a
36	chr12:11461798-11461848	HNPCEpiC	eye:	n/a
37	chr12:11460710-11460760	HMEC	breast:	n/a
38	chr12:11463937-11463987	LNCaP	prostate:	n/a
39	chr12:11460710-11460760	HCPEpiC	choroid plexus:	n/a
40	chr12:11463844-11463894	HEK293	kidney:	embryo
41	chr12:11463937-11463987	IMR90	lung:	fetal
42	chr12:11463379-11463429	Jurkat	blood:	n/a
43	chr12:11460710-11460760	LNCaP	prostate:	n/a
44	chr12:11463937-11463987	HEK293	kidney:	embryo
45	chr12:11463937-11463987	SK-N-SH_RA	brain:	n/a
46	chr12:11463844-11463894	HIPEpiC	eye:	n/a
47	chr12:11463937-11463987	HEEpiC	esophagus:	n/a
48	chr12:11461798-11461848	AG04450	lung:	fetal
49	chr12:11463379-11463429	RPTEC	kidney:	n/a
50	chr12:11463937-11463987	HAEpiC	amniotic membrane:	n/a

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

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

Extended variants
information (count: 1377 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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:15 , 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
4	chr12:11473600-11475800	Enhancers	Fetal Heart	heart
5	chr12:11474600-11475000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:11475400-11478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11478200-11479200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:11478800-11479400	Enhancers	HMEC	breast
9	chr12:11479000-11479200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:11479200-11480200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:11479200-11493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:11486800-11487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:11493000-11493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:11493000-11493400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:11493000-11494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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