Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160331889..160334678-chr3:160367548..160370147,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1047210	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10936203	0.81[JPT][hapmap]
rs11706810	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17236473	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs17570467	0.88[JPT][hapmap]
rs17826221	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs17826257	0.82[JPT][hapmap]
rs1882126	0.88[JPT][hapmap]
rs1920649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920650	0.81[AFR][1000 genomes]
rs1920652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920659	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732706	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3851365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3851366	0.88[JPT][hapmap]
rs4679654	0.81[ASN][1000 genomes]
rs4679895	0.87[ASN][1000 genomes]
rs6798668	0.89[JPT][hapmap]
rs6808083	0.88[JPT][hapmap]
rs7634826	0.88[JPT][hapmap]
rs7640072	0.88[JPT][hapmap]
rs7648393	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9816525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv877703	chr3:160325458-160398885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9822982	SMC4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160331000-160334600	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:160332000-160334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:160332200-160334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:160332200-160334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:160332200-160334000	Weak transcription	HMEC	breast
6	chr3:160332200-160334000	Weak transcription	NHEK	skin

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