Variant report

Variant	rs9305294
Chromosome Location	chr21:28225582-28225583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10446077	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11909037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444268	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974414	1.00[ASN][1000 genomes]
rs28409680	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4101218	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354230	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354266	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73356158	1.00[ASN][1000 genomes]
rs9976701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977087	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978597	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978691	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979835	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981919	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982289	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983798	0.87[EUR][1000 genomes];1.00[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28219400-28229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28222000-28225800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr21:28222200-28225600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr21:28222200-28226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:28223200-28225600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr21:28223400-28225600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr21:28223600-28225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:28224000-28228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:28224400-28225600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr21:28225000-28225600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr21:28225200-28228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:28225400-28225600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:28225400-28229000	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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