Variant report

Variant	rs222923
Chromosome Location	chr21:27887088-27887089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:27885961..27888590-chr21:27895096..27897434,2	K562	blood:

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

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

rs_ID	r²[population]
rs183414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs222919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs222922	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs222927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs222928	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs222929	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs222936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs222944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs222945	0.93[EUR][1000 genomes]
rs222946	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs222949	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs222976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs456191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27864800-27894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:27873000-27890200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:27873200-27890800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:27880600-27911600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:27882800-27895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:27884800-27915400	Weak transcription	Left Ventricle	heart
7	chr21:27885200-27887600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:27885200-27887600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:27885200-27888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:27885400-27893200	Weak transcription	Fetal Lung	lung
11	chr21:27885800-27887200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:27886000-27887200	Weak transcription	HMEC	breast
13	chr21:27886000-27887200	Weak transcription	NHEK	skin
14	chr21:27886000-27903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:27886000-27904800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr21:27886000-27905800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:27886000-27923000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:27886200-27887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:27886200-27895000	Weak transcription	HUVEC	blood vessel
20	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:27886600-27887600	Enhancers	Adipose Nuclei	Adipose
22	chr21:27887000-27887200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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