Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:98262538..98264376-chr5:98385068..98386574,2	K562	blood:
2	chr5:98383000..98385352-chr5:98389341..98391227,2	K562	blood:
3	chr5:98264285..98266376-chr5:98383857..98386212,2	K562	blood:
4	chr5:98382879..98385337-chr5:98386615..98388496,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10054188	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11242579	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11742975	0.95[ASN][1000 genomes]
rs12659212	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12659251	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4128275	0.88[ASN][1000 genomes]
rs55946434	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56161473	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57544561	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59910509	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61110940	0.95[ASN][1000 genomes]
rs6866426	0.86[ASN][1000 genomes]
rs6888668	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6890939	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7700837	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7714788	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7717324	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7730642	0.94[ASN][1000 genomes]
rs7735294	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7735379	0.89[ASN][1000 genomes]
rs7737983	0.95[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	nsv1024391	chr5:98355665-98653657	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv599118	chr5:98358191-99029453	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv599119	chr5:98358191-99315677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:98381400-98386800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98381600-98395800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:98381800-98386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:98382400-98390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:98382600-98389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:98383600-98387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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