Variant report

Variant	rs9984180
Chromosome Location	chr21:27891664-27891665
allele	C/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	0.92[ASN][1000 genomes]
rs222934	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs222935	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs222939	0.95[ASN][1000 genomes]
rs2830271	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2830274	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs7280533	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs982732	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs982733	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs9982022	0.87[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs9984605	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[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	chr21:27864800-27894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:27880600-27911600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:27882800-27895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:27884800-27915400	Weak transcription	Left Ventricle	heart
5	chr21:27885400-27893200	Weak transcription	Fetal Lung	lung
6	chr21:27886000-27903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:27886000-27904800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:27886000-27905800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr21:27886000-27923000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:27886200-27895000	Weak transcription	HUVEC	blood vessel
11	chr21:27886200-27944200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:27887600-27893200	Weak transcription	Fetal Kidney	kidney
13	chr21:27890400-27892000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr21:27890800-27892000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:27891000-27893200	Weak transcription	Aorta	Aorta
16	chr21:27891200-27905800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:27891600-27891800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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