Variant report

Variant	rs56406045
Chromosome Location	chr12:104656628-104656629
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104654376..104656180-chr12:104656602..104658713,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11111946	0.82[EUR][1000 genomes]
rs11111948	0.94[ASN][1000 genomes]
rs11111949	0.94[ASN][1000 genomes]
rs11832165	0.82[ASN][1000 genomes]
rs11832923	0.94[ASN][1000 genomes]
rs11833441	0.82[ASN][1000 genomes]
rs11838096	0.82[ASN][1000 genomes]
rs11838099	0.82[ASN][1000 genomes]
rs12296767	0.82[EUR][1000 genomes]
rs12299988	0.94[ASN][1000 genomes]
rs12308914	0.82[EUR][1000 genomes]
rs12310731	0.83[EUR][1000 genomes]
rs12311576	0.82[EUR][1000 genomes]
rs12312443	0.94[ASN][1000 genomes]
rs12314235	0.82[EUR][1000 genomes]
rs17035284	0.82[ASN][1000 genomes]
rs28651552	0.88[ASN][1000 genomes]
rs34217906	0.94[ASN][1000 genomes]
rs34494070	0.94[ASN][1000 genomes]
rs41453549	0.94[ASN][1000 genomes]
rs57036458	0.82[ASN][1000 genomes]
rs57554346	0.81[EUR][1000 genomes]
rs58420147	0.82[ASN][1000 genomes]
rs59259947	0.94[ASN][1000 genomes]
rs60333117	0.94[ASN][1000 genomes]
rs61109788	0.94[ASN][1000 genomes]
rs61116111	0.82[ASN][1000 genomes]
rs61485460	0.82[ASN][1000 genomes]
rs61497238	0.82[ASN][1000 genomes]
rs61665972	0.82[ASN][1000 genomes]
rs73392581	0.81[EUR][1000 genomes]
rs73392582	0.81[EUR][1000 genomes]
rs73394507	0.81[EUR][1000 genomes]
rs73394536	0.86[EUR][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104649800-104657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
3	chr12:104652800-104656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:104652800-104657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:104653000-104656800	Weak transcription	Stomach Mucosa	stomach
7	chr12:104656000-104657200	Enhancers	NHEK	skin
8	chr12:104656200-104657400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104656200-104658200	Enhancers	A549	lung
10	chr12:104656200-104658400	Enhancers	HMEC	breast
11	chr12:104656400-104658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104656400-104658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104656600-104658200	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links