Variant report

Variant	rs59711229
Chromosome Location	chr12:43002158-43002159
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11181577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181580	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11181590	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11181594	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11503816	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12297892	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12299667	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12307894	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12308577	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12322671	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57557308	0.85[AMR][1000 genomes]
rs7133912	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73279713	1.00[AMR][1000 genomes]
rs73279719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963825	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7977195	0.84[AFR][1000 genomes];0.85[AMR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42998000-43002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:43000600-43002800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:43001400-43005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:43001600-43002200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:43001600-43004200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:43002000-43002600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:43002000-43003000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:43002000-43003000	Enhancers	HUES6 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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