Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42295970-42297993	A549	lung:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
2	CTCF	chr19:42296080-42296230	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42294869..42297098-chr19:42316769..42318454,2	MCF-7	breast:
2	chr19:42239120..42241385-chr19:42295507..42297479,2	MCF-7	breast:
3	chr19:42277316..42282861-chr19:42295271..42298784,10	MCF-7	breast:
4	chr19:42295737..42298028-chr19:42304935..42307847,2	MCF-7	breast:
5	chr19:42245444..42247373-chr19:42295187..42298077,2	MCF-7	breast:
6	chr19:42253538..42260111-chr19:42293201..42299075,10	MCF-7	breast:

Variant related genes	Relation type
CEACAM3	TF binding region
ENSG00000086548	Chromatin interaction

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

rs_ID	r²[population]
rs10406901	1.00[EUR][1000 genomes]
rs10418786	1.00[EUR][1000 genomes]
rs16975478	1.00[EUR][1000 genomes]
rs16975593	0.83[AFR][1000 genomes]
rs2191140	1.00[EUR][1000 genomes]
rs55711976	1.00[EUR][1000 genomes]
rs55989120	0.83[AFR][1000 genomes]
rs56064499	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57872553	0.83[AFR][1000 genomes]
rs58364776	0.83[AFR][1000 genomes]
rs60561791	0.80[AFR][1000 genomes]
rs61260704	0.80[AFR][1000 genomes]
rs61479711	0.83[AFR][1000 genomes]
rs61736642	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255488	1.00[EUR][1000 genomes]
rs73545183	1.00[EUR][1000 genomes]
rs73932097	0.83[AFR][1000 genomes]
rs73932099	0.83[AFR][1000 genomes]
rs73932101	0.83[AFR][1000 genomes]
rs73933904	1.00[EUR][1000 genomes]
rs73933905	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933906	1.00[EUR][1000 genomes]
rs930103	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3319044	chr19:42257039-42297123	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3319045	chr19:42257039-42297123	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42290200-42305200	Weak transcription	Fetal Thymus	thymus
2	chr19:42292000-42296800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:42295800-42297400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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