Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr5:90523464-90524150	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
2	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
3	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:
4	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:

Variant related genes	Relation type
ENSG00000251093	TF binding region
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10059932	0.97[EUR][1000 genomes]
rs10072875	0.89[EUR][1000 genomes]
rs10473941	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10473942	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10474344	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10474345	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13362365	0.94[EUR][1000 genomes]
rs28379688	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28490868	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2973471	0.80[EUR][1000 genomes]
rs4392660	0.80[EUR][1000 genomes]
rs55657470	0.97[EUR][1000 genomes]
rs55818598	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55989779	0.97[EUR][1000 genomes]
rs56082303	0.94[EUR][1000 genomes]
rs56320224	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56410910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57891485	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58520625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59967608	0.94[EUR][1000 genomes]
rs6877491	0.87[EUR][1000 genomes]
rs73773329	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73773330	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73773337	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90515600-90524200	Weak transcription	HMEC	breast
2	chr5:90515600-90524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:90521000-90523800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:90521200-90524400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:90521200-90530400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:90523400-90524200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:90523400-90526200	Weak transcription	Ovary	ovary
8	chr5:90523600-90524000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:90523600-90524600	Enhancers	Hela-S3	cervix
10	chr5:90523600-90525000	Enhancers	Primary monocytes fromperipheralblood	blood

Quick Search: