Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr20:15535911-15537224	SK-N-SH	brain:	n/a	chr20:15536981-15536991

Variant related genes	Relation type
ENSG00000225181	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11905048	1.00[EUR][1000 genomes]
rs11907040	1.00[TSI][hapmap]
rs1233719	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233725	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1233733	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1233734	1.00[EUR][1000 genomes]
rs1233735	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1233737	1.00[TSI][hapmap]
rs1233742	1.00[EUR][1000 genomes]
rs55920771	1.00[AMR][1000 genomes]
rs59755830	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60053857	1.00[AMR][1000 genomes]
rs6034170	1.00[TSI][hapmap]
rs6034171	1.00[TSI][hapmap]
rs6034176	1.00[TSI][hapmap]
rs6043247	1.00[AMR][1000 genomes]
rs6043255	1.00[TSI][hapmap]
rs73897607	1.00[AMR][1000 genomes]
rs73897620	1.00[AMR][1000 genomes]
rs73897622	1.00[AMR][1000 genomes]
rs73897623	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8126259	1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs996395	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062252	chr20:14964258-15547739	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv544206	chr20:14964258-15547739	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv962630	chr20:15535832-15538767	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15533400-15541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:15533800-15541600	Weak transcription	Fetal Brain Male	brain
3	chr20:15536600-15537200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:15536600-15537800	Enhancers	Colon Smooth Muscle	Colon
5	chr20:15536600-15538400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:15536800-15537600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr20:15537000-15541200	Weak transcription	Fetal Stomach	stomach

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