Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44951129..44953008-chr19:44953398..44957398,3	K562	blood:
2	chr19:44953043..44955061-chr19:44987589..44989582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267188	Chromatin interaction
ENSG00000167383	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1734622	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865385	1.00[ASN][1000 genomes]
rs204527	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204529	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204530	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204532	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204548	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204550	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204553	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204554	1.00[ASN][1000 genomes]
rs204556	1.00[ASN][1000 genomes]
rs2571041	1.00[ASN][1000 genomes]
rs2571053	1.00[ASN][1000 genomes]
rs2571059	1.00[ASN][1000 genomes]
rs2686756	1.00[ASN][1000 genomes]
rs2686757	1.00[ASN][1000 genomes]
rs2686769	1.00[ASN][1000 genomes]
rs431273	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118147	1.00[ASN][1000 genomes]
rs629579	1.00[ASN][1000 genomes]
rs8110499	0.88[EUR][1000 genomes]
rs954314	1.00[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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs204542	ZNF180	cis	Muscle Skeletal	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
2	chr19:44953000-44955200	Weak transcription	Pancreas	Pancrea
3	chr19:44953000-44955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:44953000-44956000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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