Variant report

Variant	rs2830273
Chromosome Location	chr21:27909387-27909388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12627527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17535794	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7280533	0.82[JPT][hapmap]
rs73179296	0.98[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: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	chr21:27908000-27909400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:27908200-27918600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:27908400-27910000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:27908400-27932600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:27908600-27909400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr21:27908800-27911800	Weak transcription	Fetal Lung	lung
21	chr21:27908800-27930200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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