Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125890513..125892129-chr8:125892200..125894827,2	MCF-7	breast:
2	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10109611	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12680676	0.81[AMR][1000 genomes]
rs13282814	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28416206	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28513518	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470298	0.84[AMR][1000 genomes]
rs6470300	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6470302	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470303	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470305	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470306	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470307	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6470308	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7387480	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7387482	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7461227	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7461393	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7462143	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7462178	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7463222	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7464577	0.81[AMR][1000 genomes]
rs7464782	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7465413	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7827416	0.83[AMR][1000 genomes]
rs9694845	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9694858	0.80[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3404810	chr8:125889954-125895701	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125887200-125900200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125892800-125894200	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:125893400-125894000	Enhancers	NHEK	skin
4	chr8:125893400-125894200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:125893400-125894200	Enhancers	HSMM	muscle

Quick Search: