Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:174818541..174820173-chr1:174830313..174832464,2	K562	blood:
2	chr1:174829838..174832438-chr1:174843967..174846805,2	MCF-7	breast:
3	chr1:174821981..174824251-chr1:174829499..174831997,2	K562	blood:

Variant related genes	Relation type
ENSG00000231378	Chromatin interaction
ENSG00000152061	Chromatin interaction

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

rs_ID	r²[population]
rs11811190	0.80[AFR][1000 genomes]
rs12737503	0.80[AFR][1000 genomes]
rs16847730	0.80[AFR][1000 genomes]
rs3753562	0.83[AFR][1000 genomes]
rs41266060	0.80[AFR][1000 genomes]
rs41266064	0.80[AFR][1000 genomes]
rs41498747	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4565668	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58762254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59354288	0.81[EUR][1000 genomes]
rs59436654	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60665754	0.81[EUR][1000 genomes]
rs60723087	0.81[EUR][1000 genomes]
rs60893569	0.84[AFR][1000 genomes]
rs61028529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61329817	0.81[EUR][1000 genomes]
rs6673649	0.81[EUR][1000 genomes]
rs6692753	0.81[EUR][1000 genomes]
rs6695956	0.81[EUR][1000 genomes]
rs6700434	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7543502	0.81[EUR][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57053120	RABGAP1L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174819200-174843600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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