Variant report

Variant	rs9975582
Chromosome Location	chr21:17853239-17853240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10470096	0.88[ASN][1000 genomes]
rs10470198	0.88[ASN][1000 genomes]
rs10470199	0.88[ASN][1000 genomes]
rs10470200	1.00[ASN][1000 genomes]
rs13433398	0.88[ASN][1000 genomes]
rs13433444	0.88[ASN][1000 genomes]
rs2039242	0.88[ASN][1000 genomes]
rs2039243	0.88[ASN][1000 genomes]
rs2039244	0.88[ASN][1000 genomes]
rs2823827	0.81[AMR][1000 genomes]
rs2823828	0.81[AMR][1000 genomes]
rs2823830	0.81[AMR][1000 genomes]
rs2823832	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823834	1.00[AMR][1000 genomes]
rs2823835	1.00[AMR][1000 genomes]
rs2823836	0.88[ASN][1000 genomes]
rs2823837	0.88[ASN][1000 genomes]
rs28415058	0.88[ASN][1000 genomes]
rs28433186	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28526796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28608983	0.88[ASN][1000 genomes]
rs28643005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28648637	0.88[ASN][1000 genomes]
rs28690432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28840743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28858813	1.00[ASN][1000 genomes]
rs28875621	1.00[AMR][1000 genomes]
rs2896759	0.81[AMR][1000 genomes]
rs2896760	0.88[ASN][1000 genomes]
rs57055406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57523013	1.00[AMR][1000 genomes]
rs57659737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58072187	1.00[AMR][1000 genomes]
rs58225448	0.88[ASN][1000 genomes]
rs58236716	0.88[ASN][1000 genomes]
rs58304651	1.00[AMR][1000 genomes]
rs58640456	1.00[AMR][1000 genomes]
rs59959567	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60754236	1.00[AMR][1000 genomes]
rs60925168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61549904	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73363411	1.00[AMR][1000 genomes]
rs73363422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73368523	1.00[AMR][1000 genomes]
rs73380342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73380344	1.00[AMR][1000 genomes]
rs73891591	0.88[ASN][1000 genomes]
rs73891592	0.88[ASN][1000 genomes]
rs73893713	0.88[ASN][1000 genomes]
rs8132964	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9305767	0.88[ASN][1000 genomes]
rs9305768	0.88[ASN][1000 genomes]
rs9305769	0.88[ASN][1000 genomes]
rs9974386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9974519	0.88[ASN][1000 genomes]
rs9975047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975284	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975640	0.88[ASN][1000 genomes]
rs9976077	0.88[ASN][1000 genomes]
rs9976648	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9976887	0.88[ASN][1000 genomes]
rs9977372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978828	0.88[ASN][1000 genomes]
rs9979222	0.88[ASN][1000 genomes]
rs9979766	1.00[ASN][1000 genomes]
rs9979904	1.00[ASN][1000 genomes]
rs9980133	0.88[ASN][1000 genomes]
rs9980149	0.82[ASN][1000 genomes]
rs9980810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9980959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9981465	0.82[ASN][1000 genomes]
rs9981657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9981699	0.88[ASN][1000 genomes]
rs9982511	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9982641	0.88[ASN][1000 genomes]
rs9982850	0.88[ASN][1000 genomes]
rs9983223	0.88[ASN][1000 genomes]
rs9983295	0.88[ASN][1000 genomes]
rs9983298	0.88[ASN][1000 genomes]
rs9983466	0.88[ASN][1000 genomes]
rs9984183	0.88[ASN][1000 genomes]
rs9984263	0.88[ASN][1000 genomes]
rs9984639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984788	0.88[ASN][1000 genomes]
rs9984970	1.00[EUR][1000 genomes]
rs9985004	0.88[ASN][1000 genomes]
rs9985090	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9985151	1.00[EUR][1000 genomes];1.00[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	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
2	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
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 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	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
2	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
3	chr21:17846600-17859400	Weak transcription	Ovary	ovary
4	chr21:17846800-17864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:17849000-17863000	Weak transcription	Liver	Liver
6	chr21:17850800-17858400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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