Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66467586..66469315-chr17:66471906..66474159,2	K562	blood:
2	chr17:66466720..66469132-chr17:66507414..66509635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

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

rs_ID	r²[population]
rs11868680	0.88[ASN][1000 genomes]
rs2111508	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302783	0.82[ASN][1000 genomes]
rs2909209	0.82[ASN][1000 genomes]
rs2909211	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909213	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2909216	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909217	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909218	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909221	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2952280	0.83[EUR][1000 genomes]
rs2952283	0.85[EUR][1000 genomes]
rs2952286	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952289	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952290	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952294	0.84[ASN][1000 genomes]
rs2952295	0.82[ASN][1000 genomes]
rs2952296	0.82[ASN][1000 genomes]
rs71378928	0.87[ASN][1000 genomes]
rs883541	0.82[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
rs2909220	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	chr17:66462800-66470400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:66464200-66468600	Weak transcription	Left Ventricle	heart
6	chr17:66466200-66468600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:66467600-66468600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:66467600-66469800	Weak transcription	Fetal Heart	heart
9	chr17:66467800-66468600	Enhancers	Fetal Muscle Leg	muscle
10	chr17:66467800-66470000	Weak transcription	HepG2	liver
11	chr17:66467800-66487000	Weak transcription	Right Atrium	heart

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