Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:63850684-63851294	GM12878	blood:	n/a	n/a
2	SPI1	chr2:63850849-63851237	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228305	TF binding region

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

rs_ID	r²[population]
rs10200146	0.85[ASN][1000 genomes]
rs11125979	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11676682	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12104978	0.81[ASN][1000 genomes]
rs169035	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869700	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2028886	0.81[EUR][1000 genomes]
rs2034270	0.83[EUR][1000 genomes]
rs2421954	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2592389	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262496	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262498	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs262499	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs262500	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35516797	0.83[EUR][1000 genomes]
rs3754540	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671511	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6731877	0.88[ASN][1000 genomes]
rs6737621	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6756850	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8179835	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	nsv963239	chr2:63846496-63877130	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63844400-63865600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:63844800-63866200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:63848200-63855000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:63850200-63854600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:63850600-63851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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