Variant report

Variant	rs11043223
Chromosome Location	chr12:122301738-122301739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10840622	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10840624	0.96[CEU][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs10840630	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10840631	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs10840632	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs11043213	0.92[EUR][1000 genomes]
rs11043216	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11043217	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043218	0.96[CEU][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs11043219	0.93[EUR][1000 genomes]
rs11043220	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043221	0.91[AMR][1000 genomes]
rs11043225	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11043243	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11043251	1.00[YRI][hapmap]
rs11043271	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs11043288	1.00[CHD][hapmap];0.82[GIH][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs1154514	1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs11612028	1.00[YRI][hapmap]
rs11833399	1.00[CHD][hapmap]
rs12824593	1.00[YRI][hapmap]
rs12825161	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12827036	1.00[CHD][hapmap];0.90[LWK][hapmap]
rs1610041	0.81[CEU][hapmap];0.81[MEX][hapmap]
rs1720033	1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs1720037	1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs2167067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34395322	1.00[ASN][1000 genomes]
rs35599566	0.89[EUR][1000 genomes]
rs35633723	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35892692	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4511320	1.00[CHD][hapmap]
rs6486780	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66611928	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68055743	0.91[EUR][1000 genomes]
rs7132055	1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs7137218	0.81[TSI][hapmap]
rs7969671	0.82[AMR][1000 genomes];0.93[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11043223	HPD	cis	Muscle Skeletal	GTEx
rs11043223	WDR66	cis	cerebellum	SCAN
rs11043223	RP11-7M8.2	cis	Muscle Skeletal	GTEx
rs11043223	OASL	cis	parietal	SCAN
rs11043223	DIABLO	cis	parietal	SCAN

Chromatin state (count:9 , 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	chr12:122300200-122302000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:122300200-122304600	Weak transcription	Osteobl	bone
5	chr12:122300200-122310800	Weak transcription	Placenta	Placenta
6	chr12:122300400-122304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:122300400-122309400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:122301600-122312800	Weak transcription	Liver	Liver
9	chr12:122301600-122312800	Weak transcription	HepG2	liver

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