Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48443452..48446386-chr4:48450705..48452987,2	K562	blood:

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

rs_ID	r²[population]
rs10517218	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805169	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13105648	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13110633	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13114836	0.80[EUR][1000 genomes]
rs13139251	0.92[EUR][1000 genomes]
rs13139533	0.88[EUR][1000 genomes]
rs13145713	0.81[EUR][1000 genomes]
rs17472127	0.81[EUR][1000 genomes]
rs34380340	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34386102	0.88[EUR][1000 genomes]
rs34922671	0.88[EUR][1000 genomes]
rs35079648	0.92[EUR][1000 genomes]
rs35963236	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3811759	0.82[EUR][1000 genomes]
rs62311260	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6447639	0.93[EUR][1000 genomes]
rs6819847	0.83[ASN][1000 genomes]
rs6824075	0.89[EUR][1000 genomes]
rs6824125	0.89[EUR][1000 genomes]
rs6845250	0.89[EUR][1000 genomes]
rs6847622	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73246023	0.83[ASN][1000 genomes]
rs7670045	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7676578	0.88[EUR][1000 genomes]
rs7698564	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3421546	chr4:48451220-48453768	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3440779	chr4:48451395-48453793	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13102023	SLC10A4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48449000-48452800	Weak transcription	Osteobl	bone

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