Variant report

Variant	rs2027706
Chromosome Location	chr21:28477578-28477579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11701686	0.91[ASN][1000 genomes]
rs11702316	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2027707	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027709	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212822	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2212823	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2226779	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2226780	0.84[ASN][1000 genomes]
rs4817152	0.91[ASN][1000 genomes]
rs4817153	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4817154	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56204727	0.91[ASN][1000 genomes]
rs56212014	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62222953	0.84[ASN][1000 genomes]
rs7275806	0.87[ASN][1000 genomes]
rs7276268	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279803	0.91[ASN][1000 genomes]
rs8126792	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8129454	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8129669	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8129706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955742	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv16011	chr21:28476934-28477619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28476000-28477600	Enhancers	Hela-S3	cervix
3	chr21:28476800-28477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:28477000-28478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:28477000-28478200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr21:28477200-28478000	Enhancers	HSMMtube	muscle
7	chr21:28477200-28478200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:28477200-28478200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:28477200-28478200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr21:28477200-28478200	Enhancers	NHDF-Ad	bronchial
11	chr21:28477200-28478400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:28477200-28478400	Enhancers	Adipose Nuclei	Adipose
13	chr21:28477200-28479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:28477400-28477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr21:28477400-28478000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:28477400-28478000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:28477400-28478200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28477400-28478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:28477400-28478200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:28477400-28478200	Enhancers	Ovary	ovary

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