Variant report

Variant	nsv518786
Chromosome Location	chr12:1998044-2016322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:2000047-2000334	IMR90	lung:	n/a	chr12:2000179-2000190
2	CEBPB	chr12:1999997-2000357	K562	blood:	n/a	chr12:2000179-2000190
3	CEBPB	chr12:2006422-2006699	A549	lung:	n/a	chr12:2006517-2006528
4	CEBPB	chr12:2008049-2008258	HepG2	liver:	n/a	chr12:2008173-2008184
5	CEBPB	chr12:2000004-2000354	HepG2	liver:	n/a	chr12:2000179-2000190
6	CEBPB	chr12:1999987-2000369	HepG2	liver:	n/a	chr12:2000179-2000190
7	CEBPB	chr12:1999999-2000347	Hela-S3	cervix:	n/a	chr12:2000179-2000190
8	CEBPB	chr12:2008040-2008211	K562	blood:	n/a	chr12:2008173-2008184
9	CEBPB	chr12:2006437-2006656	HepG2	liver:	n/a	chr12:2006517-2006528
10	CEBPB	chr12:2000023-2000347	H1-hESC	embryonic stem cell:	n/a	chr12:2000179-2000190
11	CEBPB	chr12:1999979-2000288	MCF-7	breast:	n/a	chr12:2000179-2000190
12	CEBPB	chr12:1999999-2000353	A549	lung:	n/a	chr12:2000179-2000190
13	CEBPB	chr12:2008053-2008313	IMR90	lung:	n/a	chr12:2008173-2008184
14	CEBPB	chr12:2006370-2006679	IMR90	lung:	n/a	chr12:2006517-2006528
15	CTCF	chr12:2011957-2012055	Lung_OC	lung:	n/a	n/a
16	CTCF	chr12:2011887-2011948	GM13977	blood:	n/a	n/a
17	FAM48A	chr12:2006720-2006894	GM12878	blood:	n/a	n/a
18	FOS	chr12:2000133-2000187	MCF10A-Er-Src	breast:	n/a	n/a
19	IKZF1	chr12:2003333-2003533	GM12878	blood:	n/a	n/a
20	JUND	chr12:2000155-2000246	HepG2	liver:	n/a	n/a
21	KAP1	chr12:2000866-2001358	K562	blood:	n/a	n/a
22	KAP1	chr12:2013716-2015021	K562	blood:	n/a	n/a
23	KAP1	chr12:1997712-1998085	HEK293	kidney:	n/a	n/a
24	MAFF	chr12:1998102-1998475	K562	blood:	n/a	chr12:1998282-1998300
25	MAFF	chr12:1998085-1998491	HepG2	liver:	n/a	chr12:1998282-1998300
26	MAFK	chr12:1998004-1998662	GM12878	blood:	n/a	chr12:1998283-1998298
27	MAFK	chr12:1998113-1998471	HepG2	liver:	n/a	chr12:1998283-1998298
28	MAFK	chr12:1998087-1998487	IMR90	lung:	n/a	chr12:1998283-1998298
29	MAFK	chr12:1998108-1998467	H1-hESC	embryonic stem cell:	n/a	chr12:1998283-1998298
30	MAFK	chr12:1998098-1998481	HepG2	liver:	n/a	chr12:1998283-1998298
31	MAFK	chr12:1998109-1998470	Hela-S3	cervix:	n/a	chr12:1998283-1998298
32	MAFK	chr12:1998101-1998474	K562	blood:	n/a	chr12:1998283-1998298
33	POLR2A	chr12:2002208-2002257	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:2007096-2007134	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:2000003-2000223	A549	lung:	n/a	n/a
36	POLR2A	chr12:2000319-2000349	A549	lung:	n/a	n/a
37	POLR2A	chr12:2015285-2015292	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:1999544-1999601	A549	lung:	n/a	n/a
39	POLR2A	chr12:2000226-2000228	A549	lung:	n/a	n/a
40	POLR2A	chr12:2000514-2000635	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:2013710-2013725	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:1999942-1999954	A549	lung:	n/a	n/a
43	POLR2A	chr12:1999648-1999935	A549	lung:	n/a	n/a
44	SETDB1	chr12:2000747-2001913	U2OS	brain:	n/a	n/a
45	SETDB1	chr12:2005954-2006319	U2OS	brain:	n/a	n/a
46	SETDB1	chr12:2013922-2014489	U2OS	brain:	n/a	n/a
47	SETDB1	chr12:1997622-1998064	U2OS	brain:	n/a	n/a
48	SPI1	chr12:2003845-2004242	HL-60	blood:	n/a	n/a
49	SPI1	chr12:2003946-2004160	K562	blood:	n/a	n/a
50	SPI1	chr12:2003921-2004326	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:2014983-2015033	H1-hESC	embryonic stem cell:	embryo
2	chr12:2014983-2015033	GM06990	blood:	n/a
3	chr12:2014983-2015033	U87	brain:	n/a
4	chr12:2014983-2015033	SK-N-SH	brain:	n/a
5	chr12:2014983-2015033	Jurkat	blood:	n/a
6	chr12:2014983-2015033	RPTEC	kidney:	n/a
7	chr12:2014983-2015033	ProgFib	skin:	n/a
8	chr12:2014983-2015033	NB4	blood:	n/a
9	chr12:2014983-2015033	SKMC	muscle:	n/a
10	chr12:2014983-2015033	NH-A	brain:	n/a
11	chr12:2014983-2015033	Hela-S3	cervix:	n/a
12	chr12:2014983-2015033	Caco-2	colon:	n/a
13	chr12:2014983-2015033	HMEC	breast:	n/a
14	chr12:2014983-2015033	MCF10A-Er-Src	breast:	n/a
15	chr12:2014983-2015033	NHBE	bronchial:	n/a
16	chr12:2014983-2015033	HNPCEpiC	eye:	n/a
17	chr12:2014983-2015033	HepG2	liver:	n/a
18	chr12:2014983-2015033	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:2014983-2015033	HEEpiC	esophagus:	n/a
20	chr12:2014983-2015033	AG04449	skin:	fetal
21	chr12:2014983-2015033	AG10803	skin:	n/a
22	chr12:2014983-2015033	PANC-1	pancreas:	n/a
23	chr12:2014983-2015033	HRCEpiC	kidney:	n/a
24	chr12:2014983-2015033	AG04450	lung:	fetal
25	chr12:2014983-2015033	AG09309	skin:	n/a
26	chr12:2014983-2015033	ovcar-3	ovarian:	n/a
27	chr12:2014983-2015033	NT2-D1	testis:	n/a
28	chr12:2014983-2015033	MCF-7	breast:	n/a
29	chr12:2014983-2015033	HUVEC	blood vessel:	n/a
30	chr12:2014983-2015033	IMR90	lung:	fetal
31	chr12:2014983-2015033	BE2_C	brain:	n/a
32	chr12:2014983-2015033	SK-N-SH_RA	brain:	n/a
33	chr12:2014983-2015033	GM19239	blood:	n/a
34	chr12:2014983-2015033	NHDF-neo	bronchial:	n/a
35	chr12:2014983-2015033	T-47D	breast:	n/a
36	chr12:2014983-2015033	ECC-1	luminal epithelium:	n/a
37	chr12:2014983-2015033	HAEpiC	amniotic membrane:	n/a
38	chr12:2014983-2015033	GM12878	blood:	n/a
39	chr12:2014983-2015033	AoSMC	blood vessel:	n/a
40	chr12:2014983-2015033	HL-60	blood:	n/a
41	chr12:2014983-2015033	HEK293	kidney:	embryo
42	chr12:2014983-2015033	BJ	skin:	n/a
43	chr12:2014983-2015033	HRE	kidney:	n/a
44	chr12:2014983-2015033	HCPEpiC	choroid plexus:	n/a
45	chr12:2014983-2015033	HCT-116	colon:	n/a
46	chr12:2014983-2015033	HIPEpiC	eye:	n/a
47	chr12:2014983-2015033	CMK	blood:	n/a
48	chr12:2014983-2015033	GM12891	blood:	n/a
49	chr12:2014983-2015033	AG09319	gingival:	n/a
50	chr12:2014983-2015033	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1976877..1978383-chr12:1995618..1998420,2	MCF-7	breast:
2	chr12:1994373..1995913-chr12:1997731..2000184,2	K562	blood:

No data

Variant related genes	Relation type
CACNA2D4	TF binding region
CACNA2D4	CpG island

Extended variants
information (count: 158 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs2013064	chr12:1998044-1998045	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181500600	chr12:1998049-1998050	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549982141	chr12:1998050-1998051	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs141279445	chr12:1998060-1998061	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186631890	chr12:1998081-1998082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553860533	chr12:1998091-1998092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146981928	chr12:1998140-1998141	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2215094	chr12:1998141-1998142	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs555827342	chr12:1998143-1998144	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138146475	chr12:1998144-1998145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs377090393	chr12:1998200-1998201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10774004	chr12:1998269-1998270	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76290268	chr12:1998283-1998284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577776406	chr12:1998310-1998311	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545103422	chr12:1998386-1998387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560632850	chr12:1998399-1998400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572390261	chr12:1998401-1998402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs386759497	chr12:1998471-1998472	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs143709682	chr12:1998473-1998474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546975042	chr12:1998544-1998545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531931655	chr12:1998553-1998554	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571668150	chr12:1998580-1998581	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190687680	chr12:1998597-1998598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565081863	chr12:1998625-1998626	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs538929617	chr12:1998746-1998747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536732759	chr12:1998747-1998748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534487707	chr12:1998748-1998749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532296482	chr12:1998749-1998750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547559503	chr12:1998752-1998753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557260510	chr12:1998753-1998754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368045978	chr12:1999005-1999006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548146131	chr12:1999054-1999055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569521581	chr12:1999065-1999066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538160427	chr12:1999077-1999078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138689523	chr12:1999108-1999109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568940851	chr12:1999121-1999122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2370058	chr12:1999138-1999139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538838250	chr12:1999139-1999140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554011333	chr12:1999171-1999172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74321314	chr12:1999172-1999173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57768805	chr12:1999206-1999207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551003096	chr12:1999243-1999244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543765865	chr12:1999281-1999282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2470394	chr12:1999298-1999299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368293142	chr12:1999316-1999317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533520622	chr12:1999339-1999340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149353338	chr12:1999386-1999387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372870953	chr12:1999411-1999412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183231606	chr12:1999440-1999441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532385416	chr12:1999471-1999472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1997400-1999400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:1999400-2000200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:1999800-2000000	Bivalent Enhancer	Placenta	Placenta
4	chr12:2000000-2000400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:2000000-2000600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr12:2000600-2001200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:2001200-2001400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:2015600-2016800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:2016000-2017200	Enhancers	Right Ventricle	heart
10	chr12:2016200-2017600	Enhancers	Skeletal Muscle Female	skeletal muscle

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