Variant report

Variant	rs73446346
Chromosome Location	chr21:40028878-40028879
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	chr21:40028175..40030342-chr21:40031960..40033775,2	K562	blood:

Variant related genes	Relation type
ENSG00000157554	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11911171	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12626880	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627063	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627644	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16996685	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16996732	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2836600	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836601	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836605	1.00[EUR][1000 genomes]
rs2836606	1.00[EUR][1000 genomes]
rs2836609	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28723628	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28760544	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58124270	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7276282	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73432980	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73446333	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73446339	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73446340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73446348	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73446356	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73446361	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73446368	1.00[EUR][1000 genomes];0.98[ASN][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	nsv1058663	chr21:40009959-40031681	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1055287	chr21:40013735-40031681	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40028600-40031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:40028800-40029600	Weak transcription	Aorta	Aorta
3	chr21:40028800-40034400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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