Variant report

Variant	nsv818909
Chromosome Location	chr12:33719962-33734935
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	BHLHE40	chr12:33734583-33735390	GM12878	blood:	n/a	n/a
2	CHD2	chr12:33734716-33734999	GM12878	blood:	n/a	n/a
3	CTCF	chr12:33728391-33728597	K562	blood:	n/a	n/a
4	CTCF	chr12:33728380-33728530	GM12874	blood:	n/a	n/a
5	CTCF	chr12:33728334-33728660	GM12878	blood:	n/a	n/a
6	CTCF	chr12:33728436-33728472	GM12878	blood:	n/a	n/a
7	CTCF	chr12:33730491-33730573	GM13976	blood:	n/a	n/a
8	CTCF	chr12:33728340-33728490	HMEC	breast:	n/a	n/a
9	CTCF	chr12:33728380-33728530	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr12:33728380-33728530	SAEC	small airway:	n/a	n/a
11	CTCF	chr12:33730147-33730156	HepG2	liver:	n/a	n/a
12	CTCF	chr12:33728420-33728570	GM12866	blood:	n/a	n/a
13	EP300	chr12:33734626-33734854	GM12878	blood:	n/a	n/a
14	EP300	chr12:33734570-33734996	GM12878	blood:	n/a	n/a
15	EP300	chr12:33734575-33734967	GM12878	blood:	n/a	n/a
16	EP300	chr12:33734584-33734894	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr12:33734568-33734921	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr12:33722252-33722384	K562	blood:	n/a	n/a
19	FOS	chr12:33720624-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
20	FOS	chr12:33720614-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
21	FOS	chr12:33720657-33720864	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
22	FOS	chr12:33720627-33720930	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
23	IRF1	chr12:33728490-33728508	K562	blood:	n/a	n/a
24	JUN	chr12:33734761-33734918	K562	blood:	n/a	n/a
25	KAP1	chr12:33733183-33733582	K562	blood:	n/a	n/a
26	MAFK	chr12:33726706-33726796	HepG2	liver:	n/a	n/a
27	MAFK	chr12:33721789-33721821	HepG2	liver:	n/a	n/a
28	MXI1	chr12:33734649-33734953	GM12878	blood:	n/a	n/a
29	NRF1	chr12:33734781-33734868	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:33724680-33724892	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr12:33728475-33728490	MCF-7	breast:	n/a	n/a
32	POLR2A	chr12:33726426-33726863	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr12:33733617-33733810	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr12:33728317-33728671	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr12:33728386-33728546	GM12878	blood:	n/a	n/a
36	RAD21	chr12:33728256-33728722	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr12:33728378-33728543	GM12878	blood:	n/a	n/a
38	RAD21	chr12:33728311-33728639	H1-hESC	embryonic stem cell:	n/a	n/a
39	RCOR1	chr12:33734789-33734971	GM12878	blood:	n/a	n/a
40	RFX5	chr12:33734799-33734886	GM12878	blood:	n/a	n/a
41	RFX5	chr12:33725644-33725746	K562	blood:	n/a	n/a
42	SPI1	chr12:33722194-33722387	K562	blood:	n/a	n/a
43	SPI1	chr12:33722203-33722358	K562	blood:	n/a	n/a
44	SPI1	chr12:33722186-33722448	HL-60	blood:	n/a	n/a
45	STAT3	chr12:33730226-33730362	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr12:33721431-33721792	MCF10A-Er-Src	breast:	n/a	n/a
47	TAL1	chr12:33734768-33734907	K562	blood:	n/a	n/a
48	TBL1XR1	chr12:33722334-33722377	K562	blood:	n/a	n/a
49	ZNF143	chr12:33728414-33728552	GM12878	blood:	n/a	n/a
50	ZNF274	chr12:33734183-33734755	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:
2	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
3	chr12:33730883..33732707-chr12:33745155..33746710,2	MCF-7	breast:
4	chr12:33667255..33668975-chr12:33733951..33735986,2	MCF-7	breast:
5	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
6	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
7	chr12:33732468..33735660-chr12:33738194..33740414,4	MCF-7	breast:
8	chr12:33734204..33736505-chr12:33740513..33742206,2	K562	blood:
9	chr12:33720010..33722634-chr12:33727963..33730491,2	K562	blood:
10	chr12:33726328..33728110-chr12:33734687..33736717,2	MCF-7	breast:
11	chr12:33726328..33728110-chr12:33734687..33736717,2	MCF-7	breast:
12	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
13	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
14	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:

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

Extended variants
information (count: 203 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73317808	chr12:33720033-33720034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537076115	chr12:33720045-33720046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111591190	chr12:33720046-33720047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566568883	chr12:33720092-33720093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528365536	chr12:33720096-33720097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551737345	chr12:33720122-33720123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575152525	chr12:33720126-33720127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34226305	chr12:33720145-33720146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183849454	chr12:33720149-33720150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73317811	chr12:33720175-33720176	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74925901	chr12:33720197-33720198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57152488	chr12:33720205-33720206	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560351549	chr12:33720223-33720224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187084645	chr12:33720293-33720294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116633982	chr12:33720313-33720314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191900892	chr12:33720333-33720334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369198760	chr12:33720382-33720383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185330127	chr12:33720461-33720462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190160686	chr12:33720485-33720486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193250529	chr12:33720497-33720498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12297412	chr12:33720502-33720503	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34820110	chr12:33720520-33720521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs815046	chr12:33720602-33720603	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546807370	chr12:33720614-33720615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566701366	chr12:33720628-33720629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535504945	chr12:33720735-33720736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138746513	chr12:33720747-33720748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141564930	chr12:33720755-33720756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537444622	chr12:33720765-33720766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146178985	chr12:33720767-33720768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11052758	chr12:33720781-33720782	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114142238	chr12:33720805-33720806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148441066	chr12:33720854-33720855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141656795	chr12:33720933-33720934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs118110966	chr12:33720942-33720943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111671076	chr12:33720988-33720989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78717820	chr12:33721002-33721003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568569715	chr12:33721043-33721044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576340853	chr12:33721066-33721067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373353671	chr12:33721067-33721068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139341705	chr12:33721072-33721073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185667746	chr12:33721212-33721213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74419648	chr12:33721223-33721224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145687886	chr12:33721264-33721265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10844641	chr12:33721398-33721399	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs864173	chr12:33721422-33721423	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188228262	chr12:33721460-33721461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568853580	chr12:33721487-33721488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537983011	chr12:33721547-33721548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550943336	chr12:33721636-33721637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33733200-33741400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:33733800-33735600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:33733800-33736000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:33734400-33734800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:33734600-33735200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:33734600-33735400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:33734800-33739600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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