Variant report

Variant	rs59128112
Chromosome Location	chr21:27910352-27910353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10482975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11908969	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17536311	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17536810	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17537285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619458	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17625811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17626310	1.00[ASN][1000 genomes]
rs1827838	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60846461	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73898233	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73898234	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73898237	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73898238	0.95[AMR][1000 genomes];0.97[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27880600-27911600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr21:27884800-27915400	Weak transcription	Left Ventricle	heart
3	chr21:27886000-27923000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:27892000-27930400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:27901800-27931400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:27902000-27916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:27903000-27921000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:27903400-27932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:27906000-27912200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr21:27906000-27931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr21:27906200-27933000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:27906400-27912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:27906600-27912200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:27908200-27918600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr21:27908400-27932600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:27908800-27911800	Weak transcription	Fetal Lung	lung
18	chr21:27908800-27930200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:27909400-27910600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:27909600-27911800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr21:27910000-27912000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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