Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79571976..79574892-chr16:79585503..79587633,3	K562	blood:

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

rs_ID	r²[population]
rs173645	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs185133	0.81[EUR][1000 genomes]
rs250158	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs250159	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs250161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs250162	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs250165	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs250167	1.00[ASN][1000 genomes]
rs250170	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs30426	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs30428	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs375277	0.80[ASN][1000 genomes]
rs390512	0.80[ASN][1000 genomes]
rs396982	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs39846	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs423805	0.91[ASN][1000 genomes]
rs434626	0.80[ASN][1000 genomes]
rs440271	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs450674	0.80[ASN][1000 genomes]
rs454665	0.80[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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2754467	chr16:79539799-79598399	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79583600-79587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr16:79584600-79587000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:79585000-79587200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:79586000-79587400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr16:79586200-79586600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr16:79586200-79587000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr16:79586200-79587000	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:79586200-79587400	Enhancers	Psoas Muscle	Psoas

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