Variant report

Variant	rs9668191
Chromosome Location	chr12:122305295-122305296
allele	A/G
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	FOS	chr12:122305100-122305306	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:122305050-122305301	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:122305112-122305300	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122236505..122239479-chr12:122304789..122306733,2	K562	blood:
2	chr12:122276053..122278782-chr12:122303589..122306210,3	MCF-7	breast:

Variant related genes	Relation type
HPD	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10840626	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840627	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043222	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11043226	0.87[AMR][1000 genomes]
rs11502392	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1154510	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1154513	0.80[EUR][1000 genomes]
rs1154515	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11614623	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1185260	0.91[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs1667580	0.81[EUR][1000 genomes]
rs1667583	0.91[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs1667584	0.80[EUR][1000 genomes]
rs1678951	0.80[EUR][1000 genomes]
rs1678967	0.86[AMR][1000 genomes]
rs1678969	0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1720067	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795967	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1947826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101017	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230681	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2247139	0.81[EUR][1000 genomes]
rs2247291	0.92[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2309274	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2596137	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2596144	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2620332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2620340	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2688412	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707056	0.92[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707075	0.90[ASN][1000 genomes]
rs4760099	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs493519	0.91[CEU][hapmap];0.81[GIH][hapmap]
rs693277	0.80[EUR][1000 genomes]
rs7314056	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7957207	0.83[CEU][hapmap]
rs7961103	0.83[CEU][hapmap]
rs830124	0.91[CEU][hapmap];0.81[GIH][hapmap]
rs853758	0.91[CEU][hapmap]
rs895958	0.91[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs895959	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122300200-122310800	Weak transcription	Placenta	Placenta
2	chr12:122300400-122309400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:122301600-122312800	Weak transcription	Liver	Liver
4	chr12:122301600-122312800	Weak transcription	HepG2	liver
5	chr12:122304600-122305400	Enhancers	Fetal Brain Male	brain
6	chr12:122304600-122305400	Enhancers	Osteobl	bone
7	chr12:122304800-122310800	Weak transcription	NHDF-Ad	bronchial
8	chr12:122305000-122305600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:122305000-122308800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:122305000-122310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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