Variant report

Variant	rs7969671
Chromosome Location	chr12:122302509-122302510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122239996..122242315-chr12:122299933..122302886,2	MCF-7	breast:
2	chr12:122239049..122240564-chr12:122299953..122302949,2	K562	blood:
3	chr12:122302034..122304399-chr12:122306279..122308063,2	K562	blood:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10840622	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840624	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11043213	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11043216	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043217	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11043218	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11043219	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11043220	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043223	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043225	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043229	0.80[ASN][1000 genomes]
rs11043237	0.80[ASN][1000 genomes]
rs12825161	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1610041	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2167067	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35599566	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35633723	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35892692	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3970383	0.89[ASN][1000 genomes]
rs6486780	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66611928	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68055743	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7969671	RP11-7M8.2	cis	Muscle Skeletal	GTEx
rs7969671	HPD	cis	Heart Left Ventricle	GTEx
rs7969671	HPD	cis	Muscle Skeletal	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122297000-122304200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:122297600-122304400	Weak transcription	NHDF-Ad	bronchial
3	chr12:122300200-122304600	Weak transcription	Osteobl	bone
4	chr12:122300200-122310800	Weak transcription	Placenta	Placenta
5	chr12:122300400-122304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:122300400-122309400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:122301600-122312800	Weak transcription	Liver	Liver
8	chr12:122301600-122312800	Weak transcription	HepG2	liver

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