Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11701686	0.91[ASN][1000 genomes]
rs11702316	0.91[ASN][1000 genomes]
rs1571664	0.83[AMR][1000 genomes]
rs2027706	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027708	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212822	0.94[ASN][1000 genomes]
rs2212823	0.94[ASN][1000 genomes]
rs2226779	0.94[ASN][1000 genomes]
rs2226780	0.84[ASN][1000 genomes]
rs4817152	0.91[ASN][1000 genomes]
rs4817153	0.89[ASN][1000 genomes]
rs4817154	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56204727	0.91[ASN][1000 genomes]
rs56212014	0.86[ASN][1000 genomes]
rs62222953	0.84[ASN][1000 genomes]
rs7275806	0.87[ASN][1000 genomes]
rs7276268	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279803	0.91[ASN][1000 genomes]
rs8126792	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8129454	0.85[ASN][1000 genomes]
rs8129669	0.89[ASN][1000 genomes]
rs8129706	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28477200-28478400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr21:28477200-28478400	Enhancers	Adipose Nuclei	Adipose
3	chr21:28477200-28479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28477600-28478800	Enhancers	Fetal Kidney	kidney
5	chr21:28477600-28479000	Enhancers	Osteobl	bone
6	chr21:28478000-28478600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:28478000-28480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:28478000-28480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:28478000-28480600	Weak transcription	HSMMtube	muscle
10	chr21:28478000-28480600	Weak transcription	NHEK	skin
11	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:28478200-28478600	Enhancers	Hela-S3	cervix
13	chr21:28478200-28478800	Weak transcription	Placenta	Placenta
14	chr21:28478200-28479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:28478200-28480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:28478200-28480600	Weak transcription	NHDF-Ad	bronchial
17	chr21:28478200-28480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:28478200-28483400	Weak transcription	Ovary	ovary
19	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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