Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66462086..66463686-chr17:66465601..66467413,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11868680	0.91[ASN][1000 genomes]
rs1808335	0.83[ASN][1000 genomes]
rs2302783	0.85[ASN][1000 genomes]
rs2909209	0.85[ASN][1000 genomes]
rs2909211	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2909213	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909216	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909217	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909218	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909220	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909221	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952280	0.81[EUR][1000 genomes]
rs2952283	0.83[EUR][1000 genomes]
rs2952286	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2952289	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952290	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952294	0.85[ASN][1000 genomes]
rs2952295	0.85[ASN][1000 genomes]
rs2952296	0.84[ASN][1000 genomes]
rs71378928	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs883541	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2111508	PRKAR1A	cis	Artery Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66454600-66470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:66456800-66470400	Weak transcription	Right Ventricle	heart
3	chr17:66460400-66470400	Weak transcription	Ovary	ovary
4	chr17:66462600-66467600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:66462800-66470400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr17:66464200-66468600	Weak transcription	Left Ventricle	heart
7	chr17:66465200-66467800	Weak transcription	Fetal Muscle Leg	muscle
8	chr17:66465400-66467400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:66465800-66467000	Weak transcription	HepG2	liver
10	chr17:66465800-66467600	Enhancers	Fetal Heart	heart
11	chr17:66466200-66468600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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