Variant report

Variant	rs74080767
Chromosome Location	chr12:45469374-45469375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12306609	0.82[EUR][1000 genomes]
rs2042098	0.83[EUR][1000 genomes]
rs2544111	0.81[EUR][1000 genomes]
rs56739303	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74080216	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45466600-45469400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:45466600-45469400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:45466600-45469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:45466800-45469400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:45469000-45469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:45469000-45470200	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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