Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42005693..42007368-chr5:42011421..42013927,2	MCF-7	breast:
2	chr5:41924384..41927117-chr5:42005549..42007741,2	K562	blood:

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10044526	0.98[EUR][1000 genomes]
rs11738449	0.98[EUR][1000 genomes]
rs11742939	0.98[EUR][1000 genomes]
rs13360765	1.00[EUR][1000 genomes]
rs16872094	0.98[EUR][1000 genomes]
rs16872097	0.98[EUR][1000 genomes]
rs16872099	0.98[EUR][1000 genomes]
rs16872100	0.94[EUR][1000 genomes]
rs16872111	0.94[EUR][1000 genomes]
rs16872114	0.98[EUR][1000 genomes]
rs1813615	0.98[EUR][1000 genomes]
rs1813616	0.98[EUR][1000 genomes]
rs2011105	0.98[EUR][1000 genomes]
rs2113053	0.94[EUR][1000 genomes]
rs2161581	0.98[EUR][1000 genomes]
rs4957182	0.92[EUR][1000 genomes]
rs59778370	0.98[EUR][1000 genomes]
rs6870241	0.98[EUR][1000 genomes]
rs72746932	0.89[AMR][1000 genomes]
rs72746966	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72746967	0.89[AMR][1000 genomes]
rs72746974	0.89[AMR][1000 genomes]
rs72746997	0.89[AMR][1000 genomes]
rs72748620	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72748623	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72748626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72748631	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72748633	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72748635	0.98[EUR][1000 genomes]
rs72748636	0.98[EUR][1000 genomes]
rs72748638	0.98[EUR][1000 genomes]
rs72748639	0.98[EUR][1000 genomes]
rs72748641	0.98[EUR][1000 genomes]
rs72748645	0.96[EUR][1000 genomes]
rs72748646	0.98[EUR][1000 genomes]
rs989747	0.98[EUR][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	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
3	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
4	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr5:42006600-42007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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