Variant report

Variant	rs457864
Chromosome Location	chr21:28171926-28171927
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs190145	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229033	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229038	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs229080	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs455633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs456270	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs458546	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs459470	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs461307	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs463800	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs464273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468245	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs469319	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
5	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
6	chr21:28168800-28172400	Weak transcription	HSMMtube	muscle
7	chr21:28168800-28173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:28168800-28174000	Weak transcription	HSMM	muscle
9	chr21:28169000-28172200	Weak transcription	Osteobl	bone
10	chr21:28169000-28172400	Weak transcription	NHDF-Ad	bronchial
11	chr21:28169000-28172600	Enhancers	Ovary	ovary
12	chr21:28169400-28172200	Weak transcription	Fetal Heart	heart
13	chr21:28169400-28173600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:28169600-28172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:28169600-28173200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:28170800-28181000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:28171200-28172000	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr21:28171200-28172200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:28171400-28174200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:28171600-28173000	Enhancers	Rectal Smooth Muscle	rectum
21	chr21:28171600-28173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:28171600-28173400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:28171600-28173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:28171600-28173800	Enhancers	Fetal Muscle Leg	muscle
25	chr21:28171800-28172000	Enhancers	Brain Cingulate Gyrus	brain
26	chr21:28171800-28172000	Enhancers	Placenta	Placenta
27	chr21:28171800-28172600	Weak transcription	Brain Hippocampus Middle	brain
28	chr21:28171800-28173200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:28171800-28173200	Weak transcription	Brain Anterior Caudate	brain
30	chr21:28171800-28173400	Enhancers	Colon Smooth Muscle	Colon
31	chr21:28171800-28173400	Enhancers	NHLF	lung
32	chr21:28171800-28173800	Enhancers	Fetal Stomach	stomach
33	chr21:28171800-28174400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr21:28171800-28174400	Enhancers	Fetal Lung	lung

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