Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:67913244-67913851	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr2:67912867-67914284	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000235495	TF binding region

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

rs_ID	r²[population]
rs10168189	0.95[YRI][hapmap]
rs10171129	0.84[CHB][hapmap]
rs10182504	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10191839	0.89[CHB][hapmap]
rs10194664	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs10194853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10195055	0.89[CHB][hapmap]
rs10195947	0.89[CHB][hapmap]
rs10196069	0.89[CHB][hapmap]
rs10196358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10204184	0.89[CHB][hapmap]
rs10210853	0.89[CHB][hapmap]
rs11688644	0.89[CHB][hapmap]
rs12162351	0.81[AMR][1000 genomes]
rs12478802	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1367461	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs1549779	0.89[CHB][hapmap]
rs17034097	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671829	0.89[CHB][hapmap]
rs6743547	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72621586	0.81[AMR][1000 genomes]
rs72621587	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9309403	0.89[CHB][hapmap]

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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1430762	PELI1	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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