Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51433017-51433986	A549	lung:	n/a	chr19:51433263-51433279 chr19:51433265-51433278 chr19:51433264-51433285 chr19:51433262-51433280
2	CTCF	chr19:51433760-51433910	SAEC	small airway:	n/a	n/a
3	CTCF	chr19:51433760-51433910	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51432732..51437222-chr19:51477627..51480793,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228674	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10164366	0.94[ASN][1000 genomes]
rs12459790	0.94[ASN][1000 genomes]
rs12460497	0.94[ASN][1000 genomes]
rs12461743	0.94[ASN][1000 genomes]
rs1654546	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654547	0.82[AFR][1000 genomes]
rs1701905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701910	0.94[ASN][1000 genomes]
rs17727736	0.94[ASN][1000 genomes]
rs17800825	0.94[ASN][1000 genomes]
rs2472258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569524	0.94[ASN][1000 genomes]
rs2659081	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs268913	0.88[ASN][1000 genomes]
rs268914	0.88[ASN][1000 genomes]
rs2739401	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2739402	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73600813	0.94[ASN][1000 genomes]
rs73932685	0.88[ASN][1000 genomes]
rs9304706	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv961236	chr19:51429291-51435801	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51430400-51435200	Weak transcription	Hela-S3	cervix
2	chr19:51432800-51435400	Weak transcription	Esophagus	oesophagus
3	chr19:51432800-51437400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:51433200-51434000	Enhancers	NHEK	skin
5	chr19:51433200-51437600	Enhancers	HMEC	breast
6	chr19:51433400-51434000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:51433400-51434000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:51433400-51435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:51433600-51435200	Weak transcription	A549	lung
10	chr19:51433800-51434200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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