Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr2:55687050-55688084	K562	blood:	n/a	chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924
2	EP300	chr2:55687422-55687793	K562	blood:	n/a	chr2:55687747-55687761

No.	Distal block	Cell Line	Cell type
1	chr2:55687006..55688643-chr2:55695301..55697827,2	K562	blood:
2	chr2:55685859..55689699-chr2:55700621..55705668,4	K562	blood:
3	chr2:55685859..55688576-chr2:55704168..55705704,2	K562	blood:

Variant related genes	Relation type
RNU6-221P	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10174532	0.84[ASN][1000 genomes]
rs10206363	0.92[ASN][1000 genomes]
rs11125575	0.83[ASN][1000 genomes]
rs11125578	0.96[ASN][1000 genomes]
rs11884094	0.90[ASN][1000 genomes]
rs12999476	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13399420	0.87[ASN][1000 genomes]
rs13412745	0.85[ASN][1000 genomes]
rs1454425	0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2586949	0.89[CEU][hapmap]
rs4671245	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4672046	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6545500	0.96[ASN][1000 genomes]
rs6545501	0.87[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6719033	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6724457	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7567744	0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs7570226	0.86[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs7570299	0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs7593229	0.86[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs897095	0.96[ASN][1000 genomes]
rs897096	0.96[ASN][1000 genomes]
rs897097	0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1802545	chr2:55668771-55687618	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1037509	PNPT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55686600-55688200	Flanking Active TSS	K562	blood
2	chr2:55687200-55687800	Active TSS	Osteobl	bone

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