Variant report

Variant	rs12423700
Chromosome Location	chr12:74786459-74786460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10785114	0.97[ASN][1000 genomes]
rs10785115	0.92[ASN][1000 genomes]
rs10785117	0.97[ASN][1000 genomes]
rs12424698	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12424923	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12427265	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1870697	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2169292	0.92[ASN][1000 genomes]
rs2169293	0.97[ASN][1000 genomes]
rs4390411	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6582220	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7299471	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7314071	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7488944	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7953990	0.97[ASN][1000 genomes]
rs7961321	0.87[ASN][1000 genomes]
rs7974001	0.97[ASN][1000 genomes]
rs980784	0.97[ASN][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	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74784600-74786600	Weak transcription	A549	lung
2	chr12:74786400-74787000	Enhancers	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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