Variant report

Variant	rs11702316
Chromosome Location	chr21:28460020-28460021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11701686	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11702460	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2027706	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2027707	0.91[ASN][1000 genomes]
rs2027708	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2027709	0.91[ASN][1000 genomes]
rs2212822	0.85[ASN][1000 genomes]
rs2212823	0.85[ASN][1000 genomes]
rs2226779	0.85[ASN][1000 genomes]
rs2226780	0.84[ASN][1000 genomes]
rs4817152	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817153	0.89[ASN][1000 genomes]
rs4817154	0.91[ASN][1000 genomes]
rs4817155	0.91[ASN][1000 genomes]
rs56204727	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212014	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62222953	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7276268	0.85[ASN][1000 genomes]
rs7279803	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126792	0.85[ASN][1000 genomes]
rs8129454	0.85[ASN][1000 genomes]
rs8129669	0.89[ASN][1000 genomes]
rs8129706	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs955742	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	nsv1063321	chr21:28443774-28460820	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	esv2760707	chr21:28451370-28460775	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28447400-28467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28458200-28462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney

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