Variant report

Variant	rs12424694
Chromosome Location	chr12:122671472-122671473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10847623	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12371561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292443	0.88[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758679	0.84[EUR][1000 genomes]
rs4758680	0.88[CEU][hapmap]
rs6489188	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122668400-122671800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:122668400-122671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:122668400-122676400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:122668400-122678400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:122668400-122681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:122670000-122683600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122670200-122672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:122670400-122674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:122670400-122675400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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