Variant report

Variant	rs12047290
Chromosome Location	chr1:224772103-224772104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:224771709-224772291	HepG2	liver:	n/a	chr1:224771827-224771838 chr1:224772212-224772223 chr1:224772211-224772225 chr1:224772212-224772228 chr1:224772213-224772224 chr1:224772212-224772223 chr1:224771827-224771838 chr1:224771828-224771839

Variant related genes	Relation type
CNIH3	TF binding region

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002131	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10799586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10916644	0.97[EUR][1000 genomes]
rs10916645	0.97[EUR][1000 genomes]
rs10916647	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10916655	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10916656	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12042245	1.00[EUR][1000 genomes]
rs12042501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044182	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044602	1.00[EUR][1000 genomes]
rs12046431	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12134248	0.97[EUR][1000 genomes]
rs12136356	0.95[EUR][1000 genomes]
rs12145617	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1909442	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173526	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2405312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4654048	0.97[EUR][1000 genomes]
rs4654050	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4654053	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4654054	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4654059	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57674260	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59391065	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61825844	0.90[EUR][1000 genomes]
rs6426142	1.00[EUR][1000 genomes]
rs6667012	0.97[EUR][1000 genomes]
rs6681385	0.97[EUR][1000 genomes]
rs6696059	0.97[EUR][1000 genomes]
rs873691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883114	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9919286	0.86[AMR][1000 genomes];0.88[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224767400-224779600	Weak transcription	HMEC	breast
3	chr1:224767600-224779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224767800-224780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224768000-224774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:224768000-224776400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224768000-224776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224768000-224776800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224768000-224780400	Weak transcription	Psoas Muscle	Psoas
10	chr1:224768800-224779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:224770000-224776000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:224770200-224776000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:224771000-224774400	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links