Variant report

Variant	nsv975499
Chromosome Location	chr12:58034418-58068937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:428)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:58052917-58052954	K562	blood:	n/a	n/a
2	ARID3A	chr12:58055441-58055657	K562	blood:	n/a	n/a
3	ARID3A	chr12:58053876-58054094	K562	blood:	n/a	n/a
4	ATF1	chr12:58055347-58055542	K562	blood:	n/a	n/a
5	ATF3	chr12:58053791-58054171	K562	blood:	n/a	n/a
6	ATF3	chr12:58053763-58054224	A549	lung:	n/a	n/a
7	BDP1	chr12:58053797-58054120	K562	blood:	n/a	n/a
8	BHLHE40	chr12:58035918-58036093	K562	blood:	n/a	n/a
9	CBX3	chr12:58039642-58040152	HCT-116	colon:	n/a	n/a
10	CBX3	chr12:58039719-58039954	HCT-116	colon:	n/a	n/a
11	CBX3	chr12:58039655-58040025	K562	blood:	n/a	n/a
12	CBX3	chr12:58047846-58048154	K562	blood:	n/a	n/a
13	CBX3	chr12:58047815-58048146	K562	blood:	n/a	n/a
14	CBX3	chr12:58039697-58039990	K562	blood:	n/a	n/a
15	CEBPB	chr12:58051621-58051953	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:58062480-58062667	A549	lung:	n/a	chr12:58062576-58062587
17	CEBPB	chr12:58062486-58062674	HepG2	liver:	n/a	chr12:58062576-58062587
18	CEBPB	chr12:58060576-58060620	K562	blood:	n/a	n/a
19	CEBPB	chr12:58051560-58051922	MCF-7	breast:	n/a	n/a
20	CEBPB	chr12:58062458-58062705	K562	blood:	n/a	chr12:58062576-58062587
21	CEBPB	chr12:58051700-58051935	K562	blood:	n/a	n/a
22	CEBPZ	chr12:58039734-58040005	HepG2	liver:	n/a	n/a
23	CHD2	chr12:58053921-58054006	K562	blood:	n/a	n/a
24	CTCF	chr12:58061133-58061184	LNCaP	prostate:	n/a	n/a
25	CTCF	chr12:58051580-58051730	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr12:58035600-58035750	HVMF	connective:	n/a	n/a
27	CTCF	chr12:58058788-58058806	LNCaP	prostate:	n/a	n/a
28	E2F4	chr12:58051695-58051917	MCF10A-Er-Src	breast:	n/a	n/a
29	EP300	chr12:58053792-58054152	GM12878	blood:	n/a	n/a
30	EP300	chr12:58051683-58051883	Hela-S3	cervix:	n/a	n/a
31	EP300	chr12:58055762-58055810	GM12878	blood:	n/a	n/a
32	EP300	chr12:58053889-58054113	K562	blood:	n/a	n/a
33	EP300	chr12:58039813-58039881	K562	blood:	n/a	n/a
34	EP300	chr12:58052817-58052925	K562	blood:	n/a	n/a
35	EP300	chr12:58055316-58055514	K562	blood:	n/a	n/a
36	EP300	chr12:58034459-58034684	K562	blood:	n/a	n/a
37	FOS	chr12:58051570-58051907	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr12:58051669-58051885	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:58051643-58051919	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr12:58059754-58059943	HepG2	liver:	n/a	n/a
41	FOXA1	chr12:58059702-58060038	HepG2	liver:	n/a	n/a
42	FOXA2	chr12:58040511-58040859	A549	lung:	n/a	n/a
43	FOXA2	chr12:58040377-58041066	A549	lung:	n/a	n/a
44	GATA1	chr12:58033900-58034823	K562	blood:	n/a	n/a
45	GATA2	chr12:58059723-58060030	K562	blood:	n/a	n/a
46	HEY1	chr12:58050476-58050633	HepG2	liver:	n/a	n/a
47	HEY1	chr12:58040101-58040523	K562	blood:	n/a	n/a
48	HEY1	chr12:58040218-58040444	K562	blood:	n/a	n/a
49	IRF1	chr12:58034421-58034582	K562	blood:	n/a	n/a
50	IRF1	chr12:58068139-58068195	K562	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58068806-58068856	GM12878	blood:	n/a
2	chr12:58068806-58068856	GM12878	blood:	n/a
3	chr12:58068659-58068709	MCF10A-Er-Src	breast:	n/a
4	chr12:58068659-58068709	HL-60	blood:	n/a
5	chr12:58068688-58068738	SK-N-MC	brain:	n/a
6	chr12:58068688-58068738	NHBE	bronchial:	n/a
7	chr12:58068806-58068856	MCF10A-Er-Src	breast:	n/a
8	chr12:58068659-58068709	Caco-2	colon:	n/a
9	chr12:58068538-58068588	HRE	kidney:	n/a
10	chr12:58068688-58068738	AG09309	skin:	n/a
11	chr12:58068506-58068556	HRPEpiC	eye:	n/a
12	chr12:58068745-58068795	HUVEC	blood vessel:	n/a
13	chr12:58068806-58068856	PFSK-1	brain:	n/a
14	chr12:58068659-58068709	HRPEpiC	eye:	n/a
15	chr12:58068659-58068709	GM12878	blood:	n/a
16	chr12:58068806-58068856	AG04449	skin:	fetal
17	chr12:58068688-58068738	PANC-1	pancreas:	n/a
18	chr12:58064666-58064716	H1-hESC	embryonic stem cell:	embryo
19	chr12:58068688-58068738	CMK	blood:	n/a
20	chr12:58068745-58068795	BE2_C	brain:	n/a
21	chr12:58068659-58068709	Jurkat	blood:	n/a
22	chr12:58068506-58068556	HCF	heart:	n/a
23	chr12:58068538-58068588	RPTEC	kidney:	n/a
24	chr12:58068745-58068795	Caco-2	colon:	n/a
25	chr12:58068659-58068709	HepG2	liver:	n/a
26	chr12:58068659-58068709	HRCEpiC	kidney:	n/a
27	chr12:58068806-58068856	HepG2	liver:	n/a
28	chr12:58064666-58064716	AoSMC	blood vessel:	n/a
29	chr12:58068688-58068738	A549	lung:	n/a
30	chr12:58068745-58068795	HL-60	blood:	n/a
31	chr12:58068506-58068556	NHBE	bronchial:	n/a
32	chr12:58068745-58068795	AG04449	skin:	fetal
33	chr12:58068506-58068556	AG04449	skin:	fetal
34	chr12:58068688-58068738	AG04449	skin:	fetal
35	chr12:58068538-58068588	HAEpiC	amniotic membrane:	n/a
36	chr12:58068659-58068709	SK-N-MC	brain:	n/a
37	chr12:58068538-58068588	HCPEpiC	choroid plexus:	n/a
38	chr12:58068659-58068709	BE2_C	brain:	n/a
39	chr12:58068688-58068738	IMR90	lung:	fetal
40	chr12:58068659-58068709	CMK	blood:	n/a
41	chr12:58064666-58064716	AG04449	skin:	fetal
42	chr12:58064666-58064716	HL-60	blood:	n/a
43	chr12:58064666-58064716	HRE	kidney:	n/a
44	chr12:58064666-58064716	NHDF-neo	bronchial:	n/a
45	chr12:58068745-58068795	Jurkat	blood:	n/a
46	chr12:58068538-58068588	Jurkat	blood:	n/a
47	chr12:58068745-58068795	AoSMC	blood vessel:	n/a
48	chr12:58068506-58068556	AoSMC	blood vessel:	n/a
49	chr12:58068806-58068856	HEK293	kidney:	embryo
50	chr12:58068806-58068856	ovcar-3	ovarian:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58066093..58068049-chr12:58145390..58147565,2	MCF-7	breast:
2	chr12:58046923..58049149-chr12:58061909..58063818,2	K562	blood:
3	chr12:58030492..58032233-chr12:58033542..58035528,2	K562	blood:
4	chr12:58026791..58028467-chr12:58032868..58035456,2	K562	blood:
5	chr12:58062107..58064323-chr12:58086416..58089211,2	K562	blood:
6	chr12:58055005..58057718-chr12:58138111..58140068,2	K562	blood:
7	chr12:58033421..58035422-chr12:58138952..58140845,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238436	TF binding region
ENSG00000242990	TF binding region
ENSG00000238436	CpG island
ENSG00000242990	CpG island
ENSG00000135454	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000238436	chromatin interactions
ENSG00000135506	chromatin interactions
ENSG00000135452	chromatin interactions

Extended variants
information (count: 1074 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542151785	chr12:58034428-58034429	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561110671	chr12:58034441-58034442	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377525154	chr12:58034442-58034443	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs180772471	chr12:58034470-58034471	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565484712	chr12:58034482-58034483	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114894568	chr12:58034488-58034489	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560389359	chr12:58034529-58034530	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147760212	chr12:58034537-58034538	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186017554	chr12:58034589-58034590	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567353345	chr12:58034595-58034596	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537836088	chr12:58034644-58034645	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550251228	chr12:58034668-58034669	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560585535	chr12:58034675-58034676	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141139895	chr12:58034682-58034683	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147106929	chr12:58034684-58034685	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554303060	chr12:58034685-58034686	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572188263	chr12:58034686-58034687	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138571904	chr12:58034732-58034733	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191175521	chr12:58034777-58034778	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576146444	chr12:58034796-58034797	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs774887	chr12:58034835-58034836	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs373853937	chr12:58034888-58034889	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532184925	chr12:58034928-58034929	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182461639	chr12:58034946-58034947	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577024173	chr12:58034959-58034960	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377078164	chr12:58034999-58035000	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540882526	chr12:58035023-58035024	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552303431	chr12:58035043-58035044	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149610398	chr12:58035081-58035082	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143362693	chr12:58035209-58035210	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34280142	chr12:58035230-58035231	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs397744725	chr12:58035237-58035238	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565328112	chr12:58035258-58035259	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566490305	chr12:58035343-58035344	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561040180	chr12:58035369-58035370	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531644744	chr12:58035444-58035445	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187190240	chr12:58035445-58035446	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571856727	chr12:58035520-58035521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148351915	chr12:58035549-58035550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145563568	chr12:58035604-58035605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532807302	chr12:58035695-58035696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1082502	chr12:58035706-58035707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs566309692	chr12:58035728-58035729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35317038	chr12:58035744-58035745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536830582	chr12:58035750-58035751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555379641	chr12:58035757-58035758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190470559	chr12:58035903-58035904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371115933	chr12:58035923-58035924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536649172	chr12:58035931-58035932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558490945	chr12:58035933-58035934	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58032600-58036000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:58034400-58034800	Flanking Active TSS	K562	blood
3	chr12:58034800-58036600	Enhancers	K562	blood
4	chr12:58035000-58035800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:58035200-58036000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:58036600-58039800	Weak transcription	K562	blood
7	chr12:58039800-58040200	Active TSS	K562	blood
8	chr12:58048600-58049400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:58049400-58049800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:58049400-58050200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:58049800-58050000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:58051000-58051400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:58051000-58051800	Enhancers	Brain Substantia Nigra	brain
14	chr12:58051200-58051600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:58051200-58052200	Enhancers	Liver	Liver
16	chr12:58051400-58051800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:58051800-58052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:58052200-58054200	Enhancers	K562	blood
19	chr12:58054200-58055200	Weak transcription	K562	blood
20	chr12:58055200-58055600	Enhancers	K562	blood
21	chr12:58055600-58060400	Weak transcription	K562	blood
22	chr12:58060400-58061200	Enhancers	K562	blood
23	chr12:58063600-58063800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:58068400-58068600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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