Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48528814..48531102-chr2:48541297..48544136,2	K562	blood:
2	chr2:48529602..48531483-chr2:48541297..48543972,2	K562	blood:

Variant related genes	Relation type
ENSG00000170802	Chromatin interaction

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

rs_ID	r²[population]
rs1509562	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17037255	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17397205	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57729372	0.84[ASN][1000 genomes]
rs62137000	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62138796	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62138798	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62138804	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62138805	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62138808	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62138810	0.90[EUR][1000 genomes]
rs62138815	0.93[ASN][1000 genomes]
rs62138816	0.93[ASN][1000 genomes]
rs62138817	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545025	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545026	0.87[ASN][1000 genomes]
rs72820413	0.84[ASN][1000 genomes]
rs72820414	0.84[ASN][1000 genomes]
rs7583112	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs959141	0.93[AFR][1000 genomes];0.84[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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48528000-48539200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48530200-48540200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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