Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59643893..59646474-chr8:59653419..59655352,2	K562	blood:
2	chr8:59652398..59654780-chr8:59659355..59662086,2	K562	blood:

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

rs_ID	r²[population]
rs16923682	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs16923727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16923729	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16923744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923959	0.89[AMR][1000 genomes]
rs2634496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2634514	0.94[AMR][1000 genomes]
rs2634516	0.94[AMR][1000 genomes]
rs2634518	0.94[AMR][1000 genomes]
rs2634528	0.89[AMR][1000 genomes]
rs2693434	0.94[AMR][1000 genomes]
rs2693438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693449	0.89[AMR][1000 genomes]
rs2693451	0.84[AMR][1000 genomes]
rs2726576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726587	0.89[AMR][1000 genomes]
rs2726602	0.94[AMR][1000 genomes]
rs3110617	0.89[AMR][1000 genomes]
rs4451296	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7840141	1.00[EUR][1000 genomes];0.84[ASN][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59651400-59661000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:59651600-59655000	Weak transcription	Fetal Intestine Large	intestine
3	chr8:59652800-59654000	Enhancers	Fetal Thymus	thymus
4	chr8:59653000-59654000	Enhancers	Dnd41	blood
5	chr8:59653200-59657000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:59653600-59657000	Weak transcription	Thymus	Thymus

Quick Search: