Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40802145..40803707-chr5:40812123..40813694,2	K562	blood:
2	chr5:40797904..40799994-chr5:40810976..40813570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction

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

rs_ID	r²[population]
rs1001684	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1002423	0.81[AMR][1000 genomes]
rs1002424	0.81[AMR][1000 genomes]
rs10041430	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10043245	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10065570	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10074991	0.90[AMR][1000 genomes]
rs1122655	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956019	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957736	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13361707	0.90[AMR][1000 genomes]
rs28544962	0.82[AMR][1000 genomes]
rs3763074	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805487	0.89[AMR][1000 genomes]
rs4957352	0.84[AMR][1000 genomes]
rs58692207	0.82[AMR][1000 genomes]
rs58751240	0.89[AMR][1000 genomes]
rs59133000	0.89[AMR][1000 genomes]
rs59338019	0.82[AMR][1000 genomes]
rs6876367	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6899032	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73084490	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7717357	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[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	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 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	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808600-40814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:40808800-40825600	Weak transcription	HSMM	muscle
4	chr5:40809000-40813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:40811400-40813200	Enhancers	K562	blood

Quick Search: