Variant report

Variant	rs62309393
Chromosome Location	chr4:48314082-48314083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48312456..48314197-chr4:48341222..48342911,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11723080	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11947400	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1812667	0.81[EUR][1000 genomes]
rs2271265	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs309868	0.84[ASN][1000 genomes]
rs309870	0.84[ASN][1000 genomes]
rs309871	0.84[ASN][1000 genomes]
rs309873	0.84[ASN][1000 genomes]
rs309875	0.84[ASN][1000 genomes]
rs309887	1.00[EUR][1000 genomes]
rs418214	0.84[ASN][1000 genomes]
rs4695369	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55784928	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55860639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309366	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62309367	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62309371	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309372	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309398	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309399	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309400	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309401	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309402	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62311477	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62311483	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62311497	0.83[EUR][1000 genomes]
rs6833004	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	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	chr4:48313800-48314200	Enhancers	K562	blood
2	chr4:48313800-48314200	Enhancers	NHEK	skin
3	chr4:48313800-48314400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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