Variant report

Variant	nsv1039609
Chromosome Location	chr12:33724226-33737147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

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	chr12:33728436-33728472	GM12878	blood:	n/a	n/a
4	CTCF	chr12:33728420-33728570	GM12866	blood:	n/a	n/a
5	CTCF	chr12:33728380-33728530	SAEC	small airway:	n/a	n/a
6	CTCF	chr12:33730491-33730573	GM13976	blood:	n/a	n/a
7	CTCF	chr12:33728380-33728530	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr12:33728391-33728597	K562	blood:	n/a	n/a
9	CTCF	chr12:33728340-33728490	HMEC	breast:	n/a	n/a
10	CTCF	chr12:33728380-33728530	GM12874	blood:	n/a	n/a
11	CTCF	chr12:33728334-33728660	GM12878	blood:	n/a	n/a
12	CTCF	chr12:33730147-33730156	HepG2	liver:	n/a	n/a
13	EBF1	chr12:33735220-33735290	GM12878	blood:	n/a	n/a
14	EP300	chr12:33734575-33734967	GM12878	blood:	n/a	n/a
15	EP300	chr12:33734626-33734854	GM12878	blood:	n/a	n/a
16	EP300	chr12:33734568-33734921	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr12:33734570-33734996	GM12878	blood:	n/a	n/a
18	EP300	chr12:33734584-33734894	SK-N-SH_RA	brain:	n/a	n/a
19	IRF1	chr12:33728490-33728508	K562	blood:	n/a	n/a
20	IRF1	chr12:33736221-33736253	K562	blood:	n/a	n/a
21	JUN	chr12:33734761-33734918	K562	blood:	n/a	n/a
22	KAP1	chr12:33733183-33733582	K562	blood:	n/a	n/a
23	MAFK	chr12:33726706-33726796	HepG2	liver:	n/a	n/a
24	MXI1	chr12:33734649-33734953	GM12878	blood:	n/a	n/a
25	NRF1	chr12:33734781-33734868	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:33726426-33726863	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr12:33733617-33733810	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:33728475-33728490	MCF-7	breast:	n/a	n/a
29	POLR2A	chr12:33724680-33724892	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr12:33728256-33728722	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr12:33728317-33728671	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr12:33728386-33728546	GM12878	blood:	n/a	n/a
33	RAD21	chr12:33728311-33728639	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr12:33728378-33728543	GM12878	blood:	n/a	n/a
35	RCOR1	chr12:33736817-33737011	K562	blood:	n/a	n/a
36	RCOR1	chr12:33734789-33734971	GM12878	blood:	n/a	n/a
37	RFX5	chr12:33734799-33734886	GM12878	blood:	n/a	n/a
38	RFX5	chr12:33725644-33725746	K562	blood:	n/a	n/a
39	STAT3	chr12:33730226-33730362	MCF10A-Er-Src	breast:	n/a	n/a
40	TAL1	chr12:33734768-33734907	K562	blood:	n/a	n/a
41	ZNF143	chr12:33728414-33728552	GM12878	blood:	n/a	n/a
42	ZNF274	chr12:33734183-33734755	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
2	chr12:33735767..33737470-chr12:33737741..33739409,2	K562	blood:
3	chr12:33667255..33668975-chr12:33733951..33735986,2	MCF-7	breast:
4	chr12:33732468..33735660-chr12:33738194..33740414,4	MCF-7	breast:
5	chr12:33726328..33728110-chr12:33734687..33736717,2	MCF-7	breast:
6	chr12:31834709..31836887-chr12:33736084..33739059,2	K562	blood:
7	chr12:33734204..33736505-chr12:33740513..33742206,2	K562	blood:
8	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
9	chr12:33726328..33728110-chr12:33734687..33736717,2	MCF-7	breast:
10	chr12:33730883..33732707-chr12:33745155..33746710,2	MCF-7	breast:
11	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
12	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
13	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:

No data

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

Extended variants
information (count: 168 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs10650809	chr12:33724685-33724686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141333395	chr12:33724691-33724692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374536978	chr12:33724692-33724693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560095256	chr12:33724693-33724694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528831493	chr12:33724699-33724700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542402312	chr12:33724702-33724703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111360567	chr12:33724716-33724717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112111972	chr12:33724717-33724718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs815040	chr12:33724729-33724730	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186488402	chr12:33724763-33724764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs815039	chr12:33724765-33724766	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150297548	chr12:33724771-33724772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368618198	chr12:33724824-33724825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115223681	chr12:33724829-33724830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190097185	chr12:33724843-33724844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs554726046	chr12:33724883-33724884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs199907229	chr12:33725665-33725666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs578154832	chr12:33725712-33725713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs57025727	chr12:33725713-33725714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199951752	chr12:33725726-33725727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs75383500	chr12:33725728-33725729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190891366	chr12:33725730-33725731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs183462953	chr12:33726431-33726432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs861526	chr12:33726434-33726435	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556859219	chr12:33726455-33726456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs815047	chr12:33726459-33726460	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375095900	chr12:33726473-33726474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs561834145	chr12:33726475-33726476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535625066	chr12:33726478-33726479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11052762	chr12:33726578-33726579	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550782761	chr12:33726708-33726709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187645000	chr12:33726735-33726736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs815048	chr12:33726748-33726749	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs815049	chr12:33726757-33726758	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75525033	chr12:33726771-33726772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115011492	chr12:33726815-33726816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs1873017	chr12:33726816-33726817	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575830692	chr12:33726834-33726835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs192502104	chr12:33726861-33726862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs146711391	chr12:33728273-33728274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7954535	chr12:33728330-33728331	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550949290	chr12:33728376-33728377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140413012	chr12:33728377-33728378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs143586587	chr12:33728379-33728380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs548087874	chr12:33728417-33728418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567718471	chr12:33728429-33728430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377308987	chr12:33728432-33728433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556844708	chr12:33728443-33728444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555839926	chr12:33728477-33728478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369659278	chr12:33728482-33728483	Inactive region	TF binding 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:12 , 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
8	chr12:33735200-33737000	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:33735200-33739400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:33735400-33739600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:33735600-33739200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:33737000-33740800	Weak transcription	Duodenum Mucosa	Duodenum

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