Variant report

Variant	rs28385573
Chromosome Location	chr21:15443575-15443576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12483548	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35178815	1.00[ASN][1000 genomes]
rs35290266	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35456797	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71315759	0.88[EUR][1000 genomes]
rs7283986	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7364079	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1831533	chr21:15442382-15477876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
9	esv1827667	chr21:15442582-15521121	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3433736	chr21:15443352-15443915	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28385573	ANKRD20A18P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
4	chr21:15437000-15448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:15442000-15444200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:15442000-15448000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr21:15442000-15448200	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr21:15442200-15444000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr21:15442200-15445200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:15442400-15443800	ZNF genes & repeats	Thymus	Thymus
12	chr21:15442400-15444600	ZNF genes & repeats	Esophagus	oesophagus
13	chr21:15442400-15445800	Strong transcription	Dnd41	blood
14	chr21:15442400-15446200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:15442400-15447800	ZNF genes & repeats	Fetal Stomach	stomach
16	chr21:15442400-15448000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:15442600-15445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:15442600-15445600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:15442600-15446800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:15442600-15447600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr21:15442800-15443600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:15442800-15445600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:15443000-15447400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:15443200-15443600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr21:15443200-15445000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:15443400-15443600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:15443400-15444400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:15443400-15445600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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