Variant report

Variant	nsv8952
Chromosome Location	chr12:34199137-34208093
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	BATF	chr12:34207885-34208102	GM12878	blood:	n/a	n/a
2	BATF	chr12:34207658-34207839	GM12878	blood:	n/a	n/a
3	CTCF	chr12:34203717-34203737	GM13977	blood:	n/a	n/a
4	CUX1	chr12:34199637-34199761	GM12878	blood:	n/a	chr12:34199688-34199699
5	CUX1	chr12:34199533-34199880	K562	blood:	n/a	chr12:34199688-34199699
6	FOSL2	chr12:34201633-34201995	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:34201637-34202032	HepG2	liver:	n/a	n/a
8	FOXA2	chr12:34201775-34201989	HepG2	liver:	n/a	n/a
9	MAFF	chr12:34201779-34201984	HepG2	liver:	n/a	n/a
10	MAFK	chr12:34201831-34201898	HepG2	liver:	n/a	chr12:34201838-34201853
11	MAFK	chr12:34201797-34202010	HepG2	liver:	n/a	chr12:34201838-34201853
12	NR3C1	chr12:34204248-34204503	A549	lung:	n/a	n/a
13	POLR2A	chr12:34201513-34201567	MCF-7	breast:	n/a	n/a
14	POLR2A	chr12:34206998-34207013	MCF10A-Er-Src	breast:	n/a	n/a
15	REST	chr12:34204395-34204451	GM12878	blood:	n/a	n/a
16	SPI1	chr12:34207607-34208047	GM12891	blood:	n/a	n/a
17	SPI1	chr12:34207620-34208048	GM12878	blood:	n/a	n/a
18	SPI1	chr12:34207629-34207992	GM12891	blood:	n/a	n/a
19	SPI1	chr12:34204493-34204697	GM12878	blood:	n/a	n/a
20	SPI1	chr12:34204457-34204696	GM12891	blood:	n/a	n/a
21	SPI1	chr12:34204508-34204703	K562	blood:	n/a	n/a
22	ZNF143	chr12:34201462-34201526	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000245482	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572734089	chr12:34199583-34199584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541623014	chr12:34199596-34199597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7300399	chr12:34199607-34199608	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10844788	chr12:34199608-34199609	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138192993	chr12:34199635-34199636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564083853	chr12:34199642-34199643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111502217	chr12:34199669-34199670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs142889020	chr12:34199671-34199672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1197579	chr12:34199681-34199682	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545126250	chr12:34199725-34199726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs567146066	chr12:34199831-34199832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536100838	chr12:34199835-34199836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530085261	chr12:34201479-34201480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370361954	chr12:34201556-34201557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192199567	chr12:34201560-34201561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571432182	chr12:34201637-34201638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368036141	chr12:34201657-34201658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs118092616	chr12:34201660-34201661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553936404	chr12:34201687-34201688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184046686	chr12:34201705-34201706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs375232780	chr12:34201717-34201718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs545189264	chr12:34201753-34201754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs114006236	chr12:34201799-34201800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187841653	chr12:34201801-34201802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189906183	chr12:34201810-34201811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565225552	chr12:34201813-34201814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112645874	chr12:34201814-34201815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541225749	chr12:34201820-34201821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561090049	chr12:34201821-34201822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182382661	chr12:34201827-34201828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550149989	chr12:34201828-34201829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187039680	chr12:34201865-34201866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531647542	chr12:34201867-34201868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113625522	chr12:34201943-34201944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551419258	chr12:34201977-34201978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149014069	chr12:34201982-34201983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528936917	chr12:34201999-34202000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111711450	chr12:34202024-34202025	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs74189617	chr12:34202035-34202036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528458491	chr12:34202076-34202077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535938528	chr12:34202128-34202129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35329293	chr12:34202193-34202194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144945815	chr12:34202267-34202268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550363355	chr12:34202272-34202273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10844789	chr12:34202279-34202280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs538608734	chr12:34202329-34202330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115349492	chr12:34202364-34202365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572398339	chr12:34202365-34202366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11053072	chr12:34202399-34202400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs561096294	chr12:34202400-34202401	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34202000-34202200	Enhancers	A549	lung
2	chr12:34202000-34202400	Enhancers	HepG2	liver
3	chr12:34207400-34207800	Enhancers	Dnd41	blood
4	chr12:34207600-34208000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:34207800-34208000	Flanking Active TSS	Dnd41	blood
6	chr12:34207800-34208400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:34207800-34208600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:34207800-34209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:34208000-34208200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr12:34208000-34208200	Enhancers	Dnd41	blood
11	chr12:34208000-34208400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:34208000-34208400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:34208000-34208600	Enhancers	Primary T helper cells fromperipheralblood	blood

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