Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144249067..144251120-chr4:144252809..144255702,2	K562	blood:
2	chr4:144249241..144251820-chr4:144255755..144258255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109458	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10461277	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10461279	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1108827	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13105258	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13137712	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141368	1.00[AFR][1000 genomes]
rs34176541	0.81[AMR][1000 genomes]
rs34192902	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34225955	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34398038	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34589296	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34652171	0.81[AMR][1000 genomes]
rs35027946	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35095943	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35305979	1.00[AFR][1000 genomes]
rs35549285	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35909303	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35971728	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56085707	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs71610422	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs71610423	0.81[AMR][1000 genomes]
rs71610427	0.81[AMR][1000 genomes]
rs71610430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71610431	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs71610432	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9637656	0.81[AMR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3332574	chr4:144239396-144259577	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144247600-144250200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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