Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136382112..136384262-chr7:136388316..136390173,2	K562	blood:

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

rs_ID	r²[population]
rs10238281	0.85[ASN][1000 genomes]
rs10259281	0.90[ASN][1000 genomes]
rs10277548	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464719	0.82[ASN][1000 genomes]
rs10954541	0.98[ASN][1000 genomes]
rs10954542	0.85[ASN][1000 genomes]
rs11762747	0.92[ASN][1000 genomes]
rs11975460	0.97[ASN][1000 genomes]
rs1806271	0.81[ASN][1000 genomes]
rs34910057	0.87[ASN][1000 genomes]
rs4397326	0.96[ASN][1000 genomes]
rs4434546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4574788	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4599752	0.87[ASN][1000 genomes]
rs62485168	0.97[ASN][1000 genomes]
rs6952288	0.86[ASN][1000 genomes]
rs6962503	0.95[ASN][1000 genomes]
rs7787141	0.88[ASN][1000 genomes]
rs7796493	0.85[ASN][1000 genomes]
rs7796504	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518439	chr7:136134265-136452082	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508484	chr7:136333249-136384790	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6467680	PLEKHF1	trans	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136381600-136384600	Enhancers	Fetal Heart	heart
2	chr7:136381800-136383000	Enhancers	Stomach Smooth Muscle	stomach
3	chr7:136382000-136384200	Enhancers	Fetal Stomach	stomach
4	chr7:136382400-136384600	Enhancers	Colon Smooth Muscle	Colon

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