Variant report

Variant	rs9976546
Chromosome Location	chr21:40028193-40028194
allele	C/G
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1041780	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836604	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836616	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836618	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836622	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836625	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836627	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836636	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28379071	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28446127	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28718905	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458465	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs464519	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4817954	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55742466	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55819392	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56154327	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62217558	0.90[ASN][1000 genomes]
rs6517474	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs733540	0.86[EUR][1000 genomes]
rs743447	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8126719	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8126858	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8134675	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9979396	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979424	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979888	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9981408	0.81[CEU][hapmap]
rs9982483	0.91[EUR][1000 genomes]
rs9983626	0.92[EUR][1000 genomes];0.87[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40027000-40028600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:40027200-40028200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:40027600-40028800	Enhancers	Aorta	Aorta
4	chr21:40027800-40028600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40028000-40028800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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