Variant report

Variant	rs12053753
Chromosome Location	chr21:17643871-17643872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11088580	0.87[EUR][1000 genomes]
rs11088581	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11911170	0.87[EUR][1000 genomes]
rs11911298	0.87[EUR][1000 genomes]
rs13048000	0.80[EUR][1000 genomes]
rs1389071	0.86[EUR][1000 genomes]
rs1389072	0.87[EUR][1000 genomes]
rs1389073	0.87[EUR][1000 genomes]
rs1389074	0.85[EUR][1000 genomes]
rs1492957	0.88[EUR][1000 genomes]
rs1492960	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs183564	0.89[ASN][1000 genomes]
rs2131404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2251006	0.88[EUR][1000 genomes]
rs2251012	0.87[ASN][1000 genomes]
rs238962	0.87[EUR][1000 genomes]
rs238963	0.88[EUR][1000 genomes]
rs238964	0.87[EUR][1000 genomes]
rs238999	0.92[EUR][1000 genomes]
rs239009	0.85[EUR][1000 genomes]
rs239010	0.86[EUR][1000 genomes]
rs2823692	0.81[EUR][1000 genomes]
rs2823695	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2823696	0.87[EUR][1000 genomes]
rs2823697	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2823699	0.86[EUR][1000 genomes]
rs2823700	0.85[EUR][1000 genomes]
rs2823702	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2823703	0.88[EUR][1000 genomes]
rs2823704	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2823705	0.87[EUR][1000 genomes]
rs2823707	0.87[EUR][1000 genomes]
rs2823708	0.87[EUR][1000 genomes]
rs2823710	0.87[EUR][1000 genomes]
rs2823711	0.87[EUR][1000 genomes]
rs2823712	0.86[EUR][1000 genomes]
rs2823713	0.88[EUR][1000 genomes]
rs2823715	0.88[EUR][1000 genomes]
rs2823716	0.87[EUR][1000 genomes]
rs2823717	0.88[EUR][1000 genomes]
rs2823718	0.88[EUR][1000 genomes]
rs2823720	0.88[EUR][1000 genomes]
rs2823721	0.88[EUR][1000 genomes]
rs2823722	0.88[EUR][1000 genomes]
rs2823725	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2823729	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823730	0.91[ASN][1000 genomes]
rs2823731	0.94[EUR][1000 genomes]
rs2823732	0.91[ASN][1000 genomes]
rs4381854	0.87[EUR][1000 genomes]
rs4465860	0.88[EUR][1000 genomes]
rs6517695	0.87[EUR][1000 genomes]
rs73368990	0.91[ASN][1000 genomes]
rs9637001	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9808741	0.83[EUR][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	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17636400-17651600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17637400-17649200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:17642600-17652400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17643000-17644000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17643600-17646600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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