Variant report

Variant	rs460843
Chromosome Location	chr21:40013059-40013060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1015069	0.91[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1015070	0.90[CEU][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1540015	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1540016	0.90[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2836613	0.89[EUR][1000 genomes]
rs2836619	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs458783	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs459813	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs460112	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs460947	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs461488	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs461592	0.90[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs463269	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs463501	0.90[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs463530	0.95[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs465004	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs465327	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62217514	0.88[EUR][1000 genomes]
rs8132920	0.86[CEU][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8134664	0.91[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9647180	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs994003	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9975531	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065541	chr21:40009959-40024976	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1057719	chr21:40009959-40025433	Weak transcription Bivalent Enhancer Enhancers 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
3	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40003800-40014400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:40009200-40014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:40010600-40015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40012000-40014400	Weak transcription	Fetal Thymus	thymus
5	chr21:40012000-40016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:40012400-40013400	Enhancers	Aorta	Aorta
7	chr21:40012400-40015600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:40012800-40016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:40013000-40014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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