Variant report

Variant	nsv508252
Chromosome Location	chr3:145643496-145655721
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	CEBPB	chr3:145654848-145655110	A549	lung:	n/a	chr3:145654981-145654992 chr3:145654981-145654990
2	CEBPB	chr3:145654854-145655147	HepG2	liver:	n/a	chr3:145654981-145654992 chr3:145654981-145654990
3	CEBPB	chr3:145654814-145655116	IMR90	lung:	n/a	chr3:145654981-145654992 chr3:145654981-145654990
4	CTCF	chr3:145655045-145655063	Kidney_OC	kidney:	n/a	n/a
5	E2F4	chr3:145654749-145654871	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr3:145644145-145644250	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:145654725-145655197	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:145654811-145655118	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:145654706-145655181	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr3:145652197-145652737	HepG2	liver:	n/a	n/a
11	FOXA1	chr3:145652198-145652600	HepG2	liver:	n/a	n/a
12	FOXA2	chr3:145645687-145646286	A549	lung:	n/a	n/a
13	FOXA2	chr3:145645881-145646231	A549	lung:	n/a	n/a
14	FOXA2	chr3:145652301-145652555	HepG2	liver:	n/a	n/a
15	MAX	chr3:145651932-145651953	NB4	blood:	n/a	n/a
16	SPI1	chr3:145649377-145649952	GM12878	blood:	n/a	n/a
17	STAT3	chr3:145654780-145655190	MCF10A-Er-Src	breast:	n/a	chr3:145654981-145654989 chr3:145655124-145655131
18	STAT3	chr3:145654759-145655214	MCF10A-Er-Src	breast:	n/a	chr3:145654981-145654989 chr3:145655124-145655131
19	STAT3	chr3:145654800-145655160	MCF10A-Er-Src	breast:	n/a	chr3:145654981-145654989 chr3:145655124-145655131
20	STAT3	chr3:145654776-145655190	MCF10A-Er-Src	breast:	n/a	chr3:145654981-145654989 chr3:145655124-145655131
21	USF1	chr3:145651849-145651986	HepG2	liver:	n/a	chr3:145651916-145651927

Variant related genes	Relation type
ENSG00000244358	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs112709079	chr3:145643501-145643502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369879779	chr3:145643514-145643515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200185879	chr3:145643611-145643612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371249840	chr3:145643644-145643645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544773688	chr3:145643646-145643647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560951908	chr3:145643650-145643651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556494051	chr3:145643676-145643677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114590419	chr3:145643686-145643687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185086128	chr3:145643829-145643830	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560480986	chr3:145643847-145643848	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs6762748	chr3:145643853-145643854	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs546268249	chr3:145643871-145643872	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144207252	chr3:145643875-145643876	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1398780	chr3:145643928-145643929	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs146536363	chr3:145643931-145643932	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190067947	chr3:145643940-145643941	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528915497	chr3:145643960-145643961	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369929948	chr3:145644007-145644008	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181143292	chr3:145644013-145644014	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs960451	chr3:145644014-145644015	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141002264	chr3:145644041-145644042	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551122704	chr3:145644062-145644063	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571088023	chr3:145644121-145644122	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572857635	chr3:145651820-145651821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370199895	chr3:145651895-145651896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146249341	chr3:145651928-145651929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60285559	chr3:145651929-145651930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376058023	chr3:145651936-145651937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183473279	chr3:145651942-145651943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78373005	chr3:145651962-145651963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370496576	chr3:145651980-145651981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559165855	chr3:145651988-145651989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533061651	chr3:145652050-145652051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142697215	chr3:145652078-145652079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113614349	chr3:145652082-145652083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532004668	chr3:145652099-145652100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550488672	chr3:145652104-145652105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115393198	chr3:145652118-145652119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531992148	chr3:145652130-145652131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529488938	chr3:145652151-145652152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11709175	chr3:145652158-145652159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs566007529	chr3:145652175-145652176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370620049	chr3:145652209-145652210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200668568	chr3:145652239-145652240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57797792	chr3:145652240-145652241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201395470	chr3:145652241-145652242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56039931	chr3:145652242-145652243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201580724	chr3:145652247-145652248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73865153	chr3:145652248-145652249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200309952	chr3:145652301-145652302	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145643400-145644200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:145643800-145644200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:145643800-145644200	Active TSS	Aorta	Aorta
4	chr3:145651800-145653200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:145652600-145653000	Enhancers	HepG2	liver
6	chr3:145653200-145654400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:145654200-145654400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:145654200-145654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:145654400-145654800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:145654400-145654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:145654400-145654800	Enhancers	NHDF-Ad	bronchial
12	chr3:145654400-145655200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:145654400-145655400	Enhancers	Osteobl	bone
14	chr3:145654800-145655200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:145655200-145656600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:145655200-145659600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:145655400-145659600	Weak transcription	Osteobl	bone

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