Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:139108125..139110229-chr3:139113559..139117178,3	MCF-7	breast:
2	chr3:139107743..139111997-chr3:139116501..139120067,3	K562	blood:
3	chr3:139115639..139117244-chr3:139282447..139284014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184432	Chromatin interaction
ENSG00000248932	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10804665	0.89[EUR][1000 genomes]
rs1371340	0.93[EUR][1000 genomes]
rs167186	0.86[EUR][1000 genomes]
rs16849065	0.93[EUR][1000 genomes]
rs16849083	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[TSI][hapmap];0.93[EUR][1000 genomes]
rs176986	0.86[EUR][1000 genomes]
rs176988	0.86[EUR][1000 genomes]
rs176989	0.86[EUR][1000 genomes]
rs211583	0.86[EUR][1000 genomes]
rs295491	1.00[CHD][hapmap]
rs4243399	0.89[EUR][1000 genomes]
rs4525826	0.93[EUR][1000 genomes]
rs55735000	0.96[EUR][1000 genomes]
rs56265838	0.93[EUR][1000 genomes]
rs60144275	0.89[EUR][1000 genomes]
rs61525084	0.93[EUR][1000 genomes]
rs6439851	0.93[EUR][1000 genomes]
rs6788313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs72988746	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7372667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs7372737	0.85[EUR][1000 genomes]
rs73868351	0.93[EUR][1000 genomes]
rs7621965	0.93[EUR][1000 genomes]
rs7636369	0.89[EUR][1000 genomes]
rs9824044	0.93[EUR][1000 genomes]
rs9824195	0.93[EUR][1000 genomes]
rs9838015	0.93[EUR][1000 genomes]
rs9864352	0.93[EUR][1000 genomes]
rs9864740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[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	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr3:139109200-139123400	Weak transcription	Lung	lung
2	chr3:139109400-139123400	Weak transcription	Aorta	Aorta
3	chr3:139109600-139118000	Weak transcription	Brain Angular Gyrus	brain
4	chr3:139109600-139123400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:139109800-139117200	Weak transcription	Psoas Muscle	Psoas
6	chr3:139109800-139119800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:139110000-139117800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:139110600-139118000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:139113000-139116600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:139113200-139133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:139114200-139120000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:139114200-139153800	Weak transcription	Left Ventricle	heart

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