Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111930631..111932232-chr5:111935331..111936839,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11742518	0.99[EUR][1000 genomes]
rs11747396	0.99[EUR][1000 genomes]
rs11750687	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162066	0.97[ASN][1000 genomes]
rs13185746	0.99[EUR][1000 genomes]
rs4073305	0.99[EUR][1000 genomes]
rs6594625	0.99[EUR][1000 genomes]
rs6594635	0.99[EUR][1000 genomes]
rs6594636	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594637	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6594638	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594639	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6875324	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6881630	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6887003	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891162	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891533	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7446196	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7448452	0.99[EUR][1000 genomes]
rs7703825	0.80[EUR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv3412261	chr5:111934895-111936251	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv819717	chr5:111935623-111947507	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111930800-111940000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:111931400-111940000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:111935400-111939000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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