Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48465348..48467706-chr4:48469916..48472913,2	K562	blood:
2	chr4:48462803..48464644-chr4:48465855..48467881,2	K562	blood:

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

rs_ID	r²[population]
rs10024547	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10517217	0.86[JPT][hapmap]
rs1055721	0.90[JPT][hapmap]
rs11934876	0.94[ASN][1000 genomes]
rs13105691	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13145421	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17655838	0.87[ASN][1000 genomes]
rs17655898	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309890	0.80[JPT][hapmap]
rs4695382	1.00[ASN][1000 genomes]
rs4695383	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6447631	0.90[JPT][hapmap]
rs7434434	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655066	0.90[JPT][hapmap]
rs7662325	0.88[ASN][1000 genomes]
rs7664981	0.94[JPT][hapmap]
rs7688310	0.91[JPT][hapmap]
rs7700141	0.94[ASN][1000 genomes]
rs9992736	0.91[JPT][hapmap]
rs9999482	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48464400-48471600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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