Variant report

Variant	rs9984970
Chromosome Location	chr21:17856893-17856894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12483106	0.85[ASN][1000 genomes]
rs2404135	0.85[ASN][1000 genomes]
rs2823829	0.81[ASN][1000 genomes]
rs2823832	1.00[EUR][1000 genomes]
rs2823833	1.00[EUR][1000 genomes]
rs2823848	0.85[ASN][1000 genomes]
rs2823850	0.85[ASN][1000 genomes]
rs2823851	0.85[ASN][1000 genomes]
rs2823863	0.83[ASN][1000 genomes]
rs28433186	1.00[EUR][1000 genomes]
rs28496427	0.83[AMR][1000 genomes]
rs28526796	1.00[EUR][1000 genomes]
rs28643005	1.00[EUR][1000 genomes]
rs28647658	0.81[ASN][1000 genomes]
rs28690432	1.00[EUR][1000 genomes]
rs28840743	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57055406	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57659737	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175294	0.83[AMR][1000 genomes]
rs58611293	0.95[ASN][1000 genomes]
rs59527462	0.85[ASN][1000 genomes]
rs59959567	1.00[EUR][1000 genomes]
rs60925168	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61549904	1.00[EUR][1000 genomes]
rs73363406	0.83[AMR][1000 genomes]
rs73363409	0.83[AMR][1000 genomes]
rs73363422	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363426	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380342	1.00[EUR][1000 genomes]
rs8132964	1.00[EUR][1000 genomes]
rs9974386	1.00[EUR][1000 genomes]
rs9975047	1.00[EUR][1000 genomes]
rs9975202	1.00[EUR][1000 genomes]
rs9975284	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9975582	1.00[EUR][1000 genomes]
rs9976648	1.00[EUR][1000 genomes]
rs9976995	0.85[ASN][1000 genomes]
rs9977372	1.00[EUR][1000 genomes]
rs9977870	0.85[ASN][1000 genomes]
rs9979076	0.85[ASN][1000 genomes]
rs9979111	0.85[ASN][1000 genomes]
rs9980810	1.00[EUR][1000 genomes]
rs9980959	1.00[EUR][1000 genomes]
rs9981657	1.00[EUR][1000 genomes]
rs9982229	0.81[ASN][1000 genomes]
rs9982511	1.00[EUR][1000 genomes]
rs9984639	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9984951	0.85[ASN][1000 genomes]
rs9985090	1.00[EUR][1000 genomes]
rs9985151	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3344497	chr21:17855756-17857854	Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3421314	chr21:17856181-17857529	Weak transcription	n/a	n/a	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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