Variant report

Variant	rs4380322
Chromosome Location	chr21:28169723-28169724
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2830521	0.93[AFR][1000 genomes]
rs57567245	1.00[AMR][1000 genomes]
rs59002390	0.87[AFR][1000 genomes]
rs60359995	0.87[AFR][1000 genomes]
rs73898778	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917492	1.00[AMR][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:28 , 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	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr21:28168400-28171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
7	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
8	chr21:28168800-28171600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr21:28168800-28172400	Weak transcription	HSMMtube	muscle
10	chr21:28168800-28173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:28168800-28174000	Weak transcription	HSMM	muscle
12	chr21:28169000-28171600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:28169000-28171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:28169000-28171800	Weak transcription	Fetal Lung	lung
15	chr21:28169000-28171800	Weak transcription	NHLF	lung
16	chr21:28169000-28172200	Weak transcription	Osteobl	bone
17	chr21:28169000-28172400	Weak transcription	NHDF-Ad	bronchial
18	chr21:28169000-28172600	Enhancers	Ovary	ovary
19	chr21:28169200-28171800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:28169200-28171800	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:28169400-28171200	Weak transcription	Brain Substantia Nigra	brain
22	chr21:28169400-28172200	Weak transcription	Fetal Heart	heart
23	chr21:28169400-28173600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:28169600-28171200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:28169600-28171600	Weak transcription	Brain Hippocampus Middle	brain
26	chr21:28169600-28171800	Weak transcription	Fetal Stomach	stomach
27	chr21:28169600-28172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:28169600-28173200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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