Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55676747..55678415-chr2:55678423..55681362,2	K562	blood:
2	chr2:55461063..55464036-chr2:55678930..55681673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238619	Chromatin interaction

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

rs_ID	r²[population]
rs11125576	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680106	0.83[ASN][1000 genomes]
rs11694644	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12612931	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12620109	0.92[ASN][1000 genomes]
rs12988721	0.80[ASN][1000 genomes]
rs12989168	0.90[ASN][1000 genomes]
rs12990877	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13011640	0.91[ASN][1000 genomes]
rs13012151	0.86[ASN][1000 genomes]
rs13012554	0.82[ASN][1000 genomes]
rs13028756	0.80[ASN][1000 genomes]
rs13030415	0.91[ASN][1000 genomes]
rs2008040	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061031	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34076674	0.86[ASN][1000 genomes]
rs6729149	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72917934	0.89[ASN][1000 genomes]
rs7600456	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs957267	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1802545	chr2:55668771-55687618	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3365493	chr2:55677866-55682407	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2061032	PNPT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55679200-55681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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