Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:66474006..66474601-chr8:66618029..66618558,2	K562	blood:
2	chr8:65487356..65488176-chr8:66474016..66474937,2	K562	blood:
3	chr8:65487469..65488235-chr8:66474178..66474825,2	MCF-7	breast:
4	chr8:65664606..65665284-chr8:66474037..66474576,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087361	0.83[CHB][hapmap]
rs10092109	0.85[CHB][hapmap]
rs1053085	0.83[CHB][hapmap]
rs1053087	0.83[CHB][hapmap]
rs11985628	0.83[CHB][hapmap]
rs11990855	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs13266834	0.83[CHB][hapmap]
rs13268343	0.87[CHB][hapmap]
rs14213	0.83[CHB][hapmap]
rs1473601	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs1533285	0.83[CHB][hapmap]
rs16932226	0.85[ASN][1000 genomes]
rs2048650	0.83[CHB][hapmap]
rs3765205	0.83[CHB][hapmap]
rs3812412	0.83[CHB][hapmap]
rs4275254	0.83[CHB][hapmap]
rs4737222	0.83[CHB][hapmap]
rs4737740	0.85[ASN][1000 genomes]
rs4737742	0.81[ASN][1000 genomes]
rs4737747	0.83[CHB][hapmap]
rs4737748	0.83[CHB][hapmap]
rs4737750	0.83[CHB][hapmap]
rs6472210	0.91[CHB][hapmap]
rs6985932	0.83[CHB][hapmap]
rs6997959	0.83[CHB][hapmap]
rs7011464	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7012578	0.83[CHB][hapmap]
rs7016472	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs7814841	0.83[CHB][hapmap]
rs7823840	0.83[CHB][hapmap]
rs7835313	0.83[CHB][hapmap]
rs7836349	0.83[CHB][hapmap]
rs953593	0.86[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap]

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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6472207	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs6472207	MTFR1	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66472400-66474400	Enhancers	Fetal Brain Male	brain
2	chr8:66472800-66475000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:66473200-66474200	Enhancers	Fetal Brain Female	brain
4	chr8:66473200-66474600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:66473400-66474400	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:66473800-66474200	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr8:66474000-66474200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
8	chr8:66474000-66474400	Enhancers	Brain Anterior Caudate	brain

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