Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39740456..39741440-chr2:39923994..39925288,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

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

rs_ID	r²[population]
rs10193803	1.00[JPT][hapmap]
rs13423235	1.00[JPT][hapmap]
rs17024197	1.00[ASN][1000 genomes]
rs17024202	1.00[ASN][1000 genomes]
rs17024218	1.00[ASN][1000 genomes]
rs17024232	1.00[ASN][1000 genomes]
rs2540243	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2540245	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2716700	1.00[ASN][1000 genomes]
rs2716702	1.00[ASN][1000 genomes]
rs2716709	1.00[ASN][1000 genomes]
rs2716733	1.00[ASN][1000 genomes]
rs56104365	1.00[ASN][1000 genomes]
rs58054718	1.00[ASN][1000 genomes]
rs6738748	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72934285	1.00[ASN][1000 genomes]
rs72934295	1.00[ASN][1000 genomes]
rs72936030	1.00[ASN][1000 genomes]
rs72936034	1.00[ASN][1000 genomes]
rs72936037	1.00[ASN][1000 genomes]
rs72936041	1.00[ASN][1000 genomes]
rs72936044	1.00[ASN][1000 genomes]
rs72936047	1.00[ASN][1000 genomes]
rs72936048	1.00[ASN][1000 genomes]
rs72936053	1.00[ASN][1000 genomes]
rs72936058	1.00[ASN][1000 genomes]
rs73924940	1.00[ASN][1000 genomes]
rs73927043	1.00[ASN][1000 genomes]
rs990405	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39914200-39926800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:39923200-39925600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:39923400-39925400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:39923400-39925600	Enhancers	Fetal Brain Female	brain
5	chr2:39923600-39926200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:39923600-39935200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:39924200-39926000	Enhancers	Fetal Heart	heart
8	chr2:39924800-39926000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:39925000-39957600	Weak transcription	Fetal Stomach	stomach
10	chr2:39925200-39926600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:39925200-39950000	Weak transcription	Left Ventricle	heart

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