Variant report

Variant	rs458546
Chromosome Location	chr21:28174625-28174626
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs190145	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs229030	0.81[ASN][1000 genomes]
rs229033	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs229038	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs229080	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs455633	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs456270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs457864	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs459470	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs461307	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs463800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs464273	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468245	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs469319	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
2	chr21:28170800-28181000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:28172400-28174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:28172400-28175000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:28172800-28177200	Weak transcription	Placenta	Placenta
6	chr21:28173000-28177400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr21:28173600-28177400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:28173800-28175000	Enhancers	NHLF	lung
9	chr21:28173800-28177200	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:28173800-28177200	Weak transcription	Fetal Stomach	stomach
11	chr21:28174000-28175000	Weak transcription	Ovary	ovary
12	chr21:28174000-28178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:28174000-28185400	Weak transcription	HSMMtube	muscle
14	chr21:28174200-28175000	Enhancers	NHDF-Ad	bronchial
15	chr21:28174400-28174800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:28174400-28178800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:28174600-28175000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:28174600-28176800	Weak transcription	Hela-S3	cervix
19	chr21:28174600-28177200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:28174600-28187800	Weak transcription	Osteobl	bone

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