Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:17231407..17232225-chr18:38974006..38975026,9	Hela-S3	cervix:
2	chr1:17231264..17232193-chr18:38974006..38975026,9	HCT-116	colon:

Variant related genes	Relation type
ENSG00000272426	Chromatin interaction

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

rs_ID	r²[population]
rs11082228	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875240	0.94[EUR][1000 genomes]
rs11876215	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11877923	0.86[EUR][1000 genomes]
rs12373193	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956831	0.97[EUR][1000 genomes]
rs12956896	0.97[EUR][1000 genomes]
rs12963842	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12968299	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16974379	0.86[EUR][1000 genomes]
rs16974401	0.86[EUR][1000 genomes]
rs1845925	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703163	0.97[EUR][1000 genomes]
rs2848784	0.97[EUR][1000 genomes]
rs34298584	0.94[EUR][1000 genomes]
rs34736827	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58843487	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58876223	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507417	1.00[EUR][1000 genomes]
rs7239092	0.86[EUR][1000 genomes]
rs9675507	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv833630	chr18:38817119-39012222	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:38972400-38975800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:38972400-38975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:38973000-38976400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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