Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39924048..39926924-chr2:39929388..39930990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152154	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13401182	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978327	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2058620	0.83[CHB][hapmap]
rs2110656	0.82[CHB][hapmap]
rs2160199	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2192686	0.86[EUR][1000 genomes]
rs2373688	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2540229	0.84[CEU][hapmap]
rs2716681	0.87[EUR][1000 genomes]
rs2716699	0.86[EUR][1000 genomes]
rs2716704	0.93[EUR][1000 genomes]
rs2716730	0.83[CHB][hapmap]
rs3902124	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4365444	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4644998	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670956	0.83[CHB][hapmap]
rs4670957	0.83[CHB][hapmap]
rs4670958	0.82[CHB][hapmap]
rs6719179	0.82[CHB][hapmap]
rs6731450	0.81[CHB][hapmap]
rs7565954	0.91[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs917960	0.83[CHB][hapmap]
rs917962	0.81[CHB][hapmap]
rs917963	0.88[CHB][hapmap]
rs962262	0.88[CHB][hapmap]

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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39923600-39935200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39925000-39957600	Weak transcription	Fetal Stomach	stomach
3	chr2:39925200-39950000	Weak transcription	Left Ventricle	heart
4	chr2:39929800-39932600	Weak transcription	HSMMtube	muscle
5	chr2:39929800-39932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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