Variant report

Variant	rs55865623
Chromosome Location	chr12:43032476-43032477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11181591	0.84[EUR][1000 genomes]
rs11181593	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11181598	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11181599	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11181600	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11181603	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12228904	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12827936	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2002123	0.82[ASN][1000 genomes]
rs2204906	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34654159	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7138749	0.82[EUR][1000 genomes]
rs7308798	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv558720	chr12:43020633-43037679	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43030600-43035000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:43031600-43032800	Enhancers	HUVEC	blood vessel
3	chr12:43032200-43032600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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