Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216135175..216136682-chr1:216139501..216141114,2	K562	blood:

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

rs_ID	r²[population]
rs10157890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495013	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10864216	1.00[ASN][1000 genomes]
rs11120692	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120703	1.00[ASN][1000 genomes]
rs11120704	1.00[ASN][1000 genomes]
rs11120705	1.00[ASN][1000 genomes]
rs11803512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809985	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069955	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070264	0.82[ASN][1000 genomes]
rs12089691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1325523	1.00[EUR][1000 genomes]
rs1436773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025575	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025620	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845528	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41277206	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4336821	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4403605	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4434819	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7523914	1.00[ASN][1000 genomes]
rs764722	0.87[AMR][1000 genomes];1.00[EUR][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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1844934	chr1:216132878-216179889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr1:216132000-216144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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