Variant report

Variant	rs222922
Chromosome Location	chr21:27885650-27885651
allele	C/T
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:13)

rs_ID	r²[population]
rs183414	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs222919	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs222923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs222927	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs222928	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs222929	0.94[EUR][1000 genomes]
rs222936	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs222944	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs222945	0.87[EUR][1000 genomes]
rs222946	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs222949	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs222976	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs456191	0.89[AMR][1000 genomes];0.94[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:37 , 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	chr21:27885000-27885800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr21:27885000-27886000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr21:27885000-27886000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:27885000-27886200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr21:27885000-27886200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:27885000-27886800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr21:27885000-27886800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr21:27885200-27885800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr21:27885200-27885800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:27885200-27885800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:27885200-27885800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr21:27885200-27885800	Enhancers	Fetal Stomach	stomach
19	chr21:27885200-27886000	Enhancers	HMEC	breast
20	chr21:27885200-27886000	Enhancers	NHEK	skin
21	chr21:27885200-27886200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr21:27885200-27886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:27885200-27886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:27885200-27887600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:27885200-27887600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:27885200-27888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:27885400-27885800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr21:27885400-27885800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:27885400-27885800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:27885400-27886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:27885400-27886000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:27885400-27886000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:27885400-27886000	Enhancers	NHDF-Ad	bronchial
34	chr21:27885400-27886200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr21:27885400-27886200	Enhancers	HUVEC	blood vessel
36	chr21:27885400-27893200	Weak transcription	Fetal Lung	lung
37	chr21:27885600-27886000	Enhancers	NH-A	brain

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