Variant report

Variant	rs1918144
Chromosome Location	chr12:67475827-67475828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67463389..67464966-chr12:67474386..67476237,2	MCF-7	breast:
2	chr12:67471853..67474414-chr12:67474964..67477043,2	K562	blood:
3	chr12:67475770..67479143-chr12:67480530..67483271,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10784604	0.92[EUR][1000 genomes]
rs10878554	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10878557	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878558	0.88[CEU][hapmap]
rs11176559	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11176566	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176574	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1526834	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17781082	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1949940	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2293420	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2870928	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368011	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4913315	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4913316	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4913522	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4913524	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7302646	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7305168	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7962903	0.80[ASN][1000 genomes]
rs7973341	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978633	0.80[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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67474200-67479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:67474400-67479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:67475200-67476800	Enhancers	HMEC	breast
4	chr12:67475400-67476800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:67475400-67476800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:67475400-67477800	Enhancers	NHEK	skin
7	chr12:67475400-67478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links