Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:69995226..69997533-chr13:69999896..70002853,3	K562	blood:

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

rs_ID	r²[population]
rs1587697	0.86[ASN][1000 genomes]
rs164646	0.87[ASN][1000 genomes]
rs2484137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497359	0.87[ASN][1000 genomes]
rs2497360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497362	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497365	0.91[CHB][hapmap]
rs2593490	0.82[JPT][hapmap]
rs2653915	0.82[ASN][1000 genomes]
rs2782484	0.96[ASN][1000 genomes]
rs352238	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs352239	0.88[ASN][1000 genomes]
rs352242	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs352245	0.86[ASN][1000 genomes]
rs352246	0.87[ASN][1000 genomes]
rs352247	0.87[ASN][1000 genomes]
rs352249	0.87[ASN][1000 genomes]
rs352251	0.87[ASN][1000 genomes]
rs664401	0.87[ASN][1000 genomes]
rs681108	0.87[ASN][1000 genomes]
rs7317328	0.87[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	nsv900480	chr13:69891861-70027794	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs949627	COL5A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69994200-69997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:69995400-69998000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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