Variant report

Variant	rs222935
Chromosome Location	chr21:27899198-27899199
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs222933	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs222934	1.00[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs222939	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830271	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2830274	0.94[CHB][hapmap];0.89[CHD][hapmap]
rs7280533	0.85[ASN][1000 genomes]
rs982732	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs982733	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9982022	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9984180	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9984605	0.80[EUR][1000 genomes];0.90[ASN][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:17 , 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	chr21:27886000-27903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:27886000-27904800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:27886000-27905800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:27886000-27923000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:27891200-27905800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:27891800-27906600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:27892000-27903200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:27892000-27930400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:27893000-27908200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:27894000-27903200	Weak transcription	Fetal Lung	lung
14	chr21:27894200-27903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:27895800-27903400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr21:27896400-27903200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:27897000-27903200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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