Variant report

Variant	rs12425334
Chromosome Location	chr12:104805049-104805050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10861216	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12425523	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13377715	0.89[ASN][1000 genomes]
rs17035504	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17035521	0.86[EUR][1000 genomes]
rs1922264	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4403872	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56831540	0.83[ASN][1000 genomes]
rs57710522	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57954752	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59348790	0.87[ASN][1000 genomes]
rs60394569	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73183716	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73183722	0.83[EUR][1000 genomes]
rs73183723	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7486552	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104802200-104806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104802200-104809800	Weak transcription	Thymus	Thymus
3	chr12:104802600-104806600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:104802800-104808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:104802800-104808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104802800-104808200	Weak transcription	HMEC	breast
7	chr12:104803000-104805400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:104803000-104805600	Weak transcription	NH-A	brain
9	chr12:104803000-104805800	Weak transcription	NHEK	skin
10	chr12:104803000-104808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104803200-104805400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:104803200-104805800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:104803600-104805400	Weak transcription	Placenta	Placenta
14	chr12:104803600-104805600	Weak transcription	K562	blood
15	chr12:104803600-104806600	Weak transcription	Hela-S3	cervix
16	chr12:104804000-104806400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:104804400-104806200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:104804400-104806200	Enhancers	Osteobl	bone
19	chr12:104804600-104805400	Weak transcription	Pancreas	Pancrea

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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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