Variant report

Variant	nsv1045011
Chromosome Location	chr12:33711169-33725220
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	BRCA1	chr12:33713910-33713913	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr12:33715352-33715613	K562	blood:	n/a	n/a
3	CBX3	chr12:33715396-33715617	K562	blood:	n/a	n/a
4	CEBPB	chr12:33712422-33712635	H1-hESC	embryonic stem cell:	n/a	chr12:33712545-33712556
5	CEBPB	chr12:33712455-33712704	A549	lung:	n/a	chr12:33712545-33712556
6	CEBPB	chr12:33712447-33712679	HepG2	liver:	n/a	chr12:33712545-33712556
7	EP300	chr12:33722252-33722384	K562	blood:	n/a	n/a
8	FOS	chr12:33720624-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
9	FOS	chr12:33720627-33720930	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
10	FOS	chr12:33720657-33720864	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
11	FOS	chr12:33720614-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
12	JUND	chr12:33719397-33719713	HepG2	liver:	n/a	chr12:33719529-33719540
13	JUND	chr12:33712531-33712571	HepG2	liver:	n/a	n/a
14	KAP1	chr12:33715122-33716066	K562	blood:	n/a	n/a
15	MAFK	chr12:33721789-33721821	HepG2	liver:	n/a	n/a
16	MYC	chr12:33714766-33714892	MCF-7	breast:	n/a	n/a
17	MYC	chr12:33713749-33713797	MCF-7	breast:	n/a	n/a
18	POLR2A	chr12:33714695-33714716	MCF-7	breast:	n/a	n/a
19	POLR2A	chr12:33714751-33714765	MCF-7	breast:	n/a	n/a
20	POLR2A	chr12:33714775-33714962	MCF-7	breast:	n/a	n/a
21	POLR2A	chr12:33719422-33719588	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:33714674-33714916	A549	lung:	n/a	n/a
23	POLR2A	chr12:33724680-33724892	MCF10A-Er-Src	breast:	n/a	n/a
24	SPI1	chr12:33722186-33722448	HL-60	blood:	n/a	n/a
25	SPI1	chr12:33722203-33722358	K562	blood:	n/a	n/a
26	SPI1	chr12:33722194-33722387	K562	blood:	n/a	n/a
27	STAT3	chr12:33715870-33716070	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr12:33713708-33713862	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr12:33721431-33721792	MCF10A-Er-Src	breast:	n/a	n/a
30	TBL1XR1	chr12:33722334-33722377	K562	blood:	n/a	n/a
31	YY1	chr12:33713998-33714221	H1-hESC	embryonic stem cell:	n/a	chr12:33714136-33714148 chr12:33714137-33714145 chr12:33714126-33714148
32	ZNF143	chr12:33715397-33715599	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:33592469..33594296-chr12:33715860..33717717,2	MCF-7	breast:
2	chr12:33720010..33722634-chr12:33727963..33730491,2	K562	blood:
3	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
4	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
5	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
6	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:
7	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
8	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:
9	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-400P	TF binding region
ENSG00000212475	chromatin interactions
ENSG00000110975	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538274030	chr12:33711205-33711206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369902696	chr12:33711233-33711234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566248623	chr12:33711295-33711296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535378660	chr12:33711312-33711313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555189767	chr12:33711315-33711316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567380318	chr12:33711336-33711337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537517816	chr12:33711382-33711383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113146418	chr12:33711385-33711386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189090374	chr12:33711463-33711464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577134551	chr12:33711493-33711494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373566706	chr12:33711497-33711498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565139688	chr12:33711520-33711521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572246447	chr12:33711521-33711522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540962809	chr12:33711527-33711528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192786666	chr12:33711531-33711532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529861029	chr12:33711558-33711559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs745609	chr12:33711563-33711564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs745608	chr12:33711564-33711565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184630191	chr12:33711566-33711567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549238170	chr12:33711580-33711581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560921710	chr12:33711586-33711587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565707728	chr12:33711662-33711663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111461030	chr12:33711672-33711673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111879429	chr12:33711673-33711674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114288443	chr12:33711674-33711675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568640060	chr12:33711709-33711710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550015919	chr12:33711748-33711749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572332718	chr12:33711798-33711799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189852099	chr12:33711799-33711800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372760867	chr12:33711805-33711806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1471663	chr12:33711813-33711814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs60605863	chr12:33711817-33711818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553078530	chr12:33711901-33711902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573219603	chr12:33711928-33711929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143646493	chr12:33711936-33711937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138428154	chr12:33711946-33711947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114324218	chr12:33711973-33711974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370993541	chr12:33711995-33711996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61927758	chr12:33712017-33712018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs76222759	chr12:33712036-33712037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563547135	chr12:33712059-33712060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4931072	chr12:33712079-33712080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181393972	chr12:33712120-33712121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545916493	chr12:33712136-33712137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115931773	chr12:33712177-33712178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536546043	chr12:33712206-33712207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528109008	chr12:33712229-33712230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548864305	chr12:33712331-33712332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112188658	chr12:33712335-33712336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116269903	chr12:33712403-33712404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33704800-33714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33710000-33713600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:33711200-33711600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:33711600-33713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:33712200-33712400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:33712400-33712600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:33712400-33712600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:33712400-33713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:33712600-33713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:33712800-33713800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:33713200-33713600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:33713400-33713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:33713400-33714400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:33713600-33713800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:33713600-33713800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:33713600-33714000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:33713600-33714000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:33713600-33714000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:33713600-33714400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:33713600-33714400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:33713600-33714600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:33713800-33714000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:33713800-33714400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:33713800-33714400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:33714000-33714200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:33714000-33714600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:33714000-33714800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:33714200-33714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:33714600-33714800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:33714600-33714800	ZNF genes & repeats	Pancreas	Pancrea
31	chr12:33714600-33715000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:33715600-33716200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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