Variant report

Variant	rs72648552
Chromosome Location	chr8:61370278-61370279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs16918852	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926104	0.81[ASN][1000 genomes]
rs16926111	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926133	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926137	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926155	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926270	0.84[ASN][1000 genomes]
rs1893273	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1941462	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989747	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1989748	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2007283	0.81[ASN][1000 genomes]
rs2186985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55761966	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55831959	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55841758	0.84[ASN][1000 genomes]
rs56030634	0.84[ASN][1000 genomes]
rs56114656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56141796	0.84[ASN][1000 genomes]
rs56160504	0.84[ASN][1000 genomes]
rs56165842	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56342714	0.84[ASN][1000 genomes]
rs57297574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57459725	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59861870	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60012828	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60991551	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61120651	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980590	0.84[ASN][1000 genomes]
rs6981694	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983084	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7016685	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs714207	0.81[ASN][1000 genomes]
rs72648528	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648529	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648531	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648553	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648562	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648567	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72648576	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72648589	0.83[ASN][1000 genomes]
rs72648590	0.81[ASN][1000 genomes]
rs72648594	0.81[ASN][1000 genomes]
rs7817790	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7825009	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825055	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7830976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs922611	0.87[EUR][1000 genomes];0.98[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61368600-61371400	Weak transcription	NHLF	lung
2	chr8:61369200-61370600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:61369200-61370600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:61369400-61375600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:61369600-61370600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:61369600-61374200	Weak transcription	NHEK	skin
7	chr8:61369600-61379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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