Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:84863624-84865039	H1-neurons	neurons:	n/a	chr1:84864127-84864145

Variant related genes	Relation type
UOX	TF binding region
DNASE2B	TF binding region

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

rs_ID	r²[population]
rs12029581	1.00[JPT][hapmap]
rs12034438	0.95[JPT][hapmap]
rs12046192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1246386	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1246392	1.00[JPT][hapmap]
rs1340595	0.81[JPT][hapmap]
rs1506700	1.00[JPT][hapmap]
rs17131659	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1981254	1.00[JPT][hapmap]
rs3116415	1.00[JPT][hapmap]
rs3117747	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3121147	1.00[JPT][hapmap]
rs3956461	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs472601	1.00[JPT][hapmap]
rs507772	1.00[JPT][hapmap]
rs553775	1.00[JPT][hapmap]
rs601564	1.00[JPT][hapmap]
rs6576700	1.00[JPT][hapmap]
rs6663802	1.00[JPT][hapmap]
rs679725	1.00[JPT][hapmap]
rs72714743	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84863000-84871200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:84863200-84865600	Enhancers	Cortex derived primary cultured neurospheres	brain

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