Variant report

Variant	rs74084318
Chromosome Location	chr12:30597370-30597371
allele	A/G
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]
rs16906447	1.00[EUR][1000 genomes]
rs57470255	1.00[AMR][1000 genomes]
rs58354130	1.00[AMR][1000 genomes]
rs58736630	0.88[EUR][1000 genomes]
rs7302897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081855	0.83[EUR][1000 genomes]
rs73081858	0.83[EUR][1000 genomes]
rs73081860	0.83[EUR][1000 genomes]
rs74082417	0.89[EUR][1000 genomes]
rs74084310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924991	1.00[EUR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:30592600-30600000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:30593000-30602400	Weak transcription	Liver	Liver
3	chr12:30594800-30600200	Weak transcription	Spleen	Spleen

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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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