Variant report

Variant	rs58603417
Chromosome Location	chr1:197766311-197766312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197742811..197746253-chr1:197766059..197770491,4	K562	blood:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16841857	1.00[AMR][1000 genomes]
rs55828314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873850	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57221255	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57319710	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57805974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58666162	1.00[AMR][1000 genomes]
rs58959432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59214900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59396394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59498839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60625077	1.00[AMR][1000 genomes]
rs60873643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60890417	1.00[AMR][1000 genomes]
rs61374501	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134509	1.00[AMR][1000 genomes]
rs74134849	1.00[AMR][1000 genomes]
rs74134857	1.00[AMR][1000 genomes]
rs74134858	1.00[AMR][1000 genomes]
rs74134859	1.00[AMR][1000 genomes]
rs74134862	1.00[AMR][1000 genomes]
rs74134865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134868	0.82[AFR][1000 genomes]
rs74134869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137409	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv947369	chr1:197750549-197778118	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197757200-197768000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197757200-197769600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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