Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:117922408..117925128-chr12:117937120..117940013,2	MCF-7	breast:
2	chr12:117938022..117941768-chr12:117943153..117947077,5	K562	blood:
3	chr12:117934649..117936494-chr12:117937968..117939716,2	K562	blood:
4	chr12:117937795..117939522-chr12:117945577..117947118,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11068511	0.81[ASN][1000 genomes]
rs11068512	0.81[ASN][1000 genomes]
rs11068513	0.81[ASN][1000 genomes]
rs11068514	0.81[ASN][1000 genomes]
rs11068515	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11068523	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12296893	0.81[ASN][1000 genomes]
rs12298118	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12298168	0.81[ASN][1000 genomes]
rs12302548	0.81[ASN][1000 genomes]
rs12306412	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12316783	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12319092	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16947636	0.81[ASN][1000 genomes]
rs16947644	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16947663	0.88[ASN][1000 genomes]
rs55698241	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55974696	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56005605	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064940	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59673657	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61573358	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304665	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401447	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117935400-117941400	Enhancers	Liver	Liver
2	chr12:117936000-117940200	Enhancers	Pancreas	Pancrea
3	chr12:117936600-117940000	Enhancers	A549	lung
4	chr12:117937400-117939600	Enhancers	Fetal Muscle Leg	muscle
5	chr12:117937400-117939800	Enhancers	Fetal Stomach	stomach
6	chr12:117937800-117938600	Weak transcription	Left Ventricle	heart
7	chr12:117938000-117939000	Weak transcription	Gastric	stomach
8	chr12:117938000-117939200	Weak transcription	Lung	lung
9	chr12:117938000-117939200	Weak transcription	Right Atrium	heart
10	chr12:117938200-117938600	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr12:117938400-117938600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:117938400-117941000	Enhancers	Primary monocytes fromperipheralblood	blood

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