Variant report

Variant	rs11043222
Chromosome Location	chr12:122301275-122301276
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
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10840626	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840627	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11502392	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1154510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1154513	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1154515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11614623	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168674	0.85[AMR][1000 genomes]
rs1185260	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1667580	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1667583	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1667584	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1678951	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1678967	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1678969	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1720067	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1795963	0.82[ASN][1000 genomes]
rs1795967	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1947826	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2101017	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2230681	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2247139	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2247291	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2309274	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2596137	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2596144	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2620332	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2620340	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2688412	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2707056	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707075	0.96[ASN][1000 genomes]
rs4760099	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs693277	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7314056	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs895958	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs895959	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9668191	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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

No data

Chromatin state (count:12 , 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	chr12:122299600-122301400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:122300200-122301400	Weak transcription	Adipose Nuclei	Adipose
5	chr12:122300200-122302000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:122300200-122304600	Weak transcription	Osteobl	bone
7	chr12:122300200-122310800	Weak transcription	Placenta	Placenta
8	chr12:122300400-122304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:122300400-122309400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:122301000-122301400	Enhancers	Pancreas	Pancrea
11	chr12:122301200-122301600	Enhancers	Liver	Liver
12	chr12:122301200-122301600	Enhancers	HepG2	liver

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