Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:60546830..60548400-chr5:60625408..60627597,2	MCF-7	breast:
2	chr5:60456500..60459341-chr5:60546816..60549547,4	MCF-7	breast:
3	chr5:60541894..60543615-chr5:60545934..60547719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

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

rs_ID	r²[population]
rs10052753	0.83[EUR][1000 genomes]
rs10054247	0.83[EUR][1000 genomes]
rs10055076	0.83[EUR][1000 genomes]
rs10069718	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10075959	0.83[EUR][1000 genomes]
rs10076568	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11741431	0.83[EUR][1000 genomes]
rs11744226	0.86[EUR][1000 genomes]
rs11745179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11745233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11745696	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11750566	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11954384	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13181515	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13181517	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13183007	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13185516	1.00[CEU][hapmap]
rs13186053	0.86[EUR][1000 genomes]
rs13190305	0.84[EUR][1000 genomes]
rs159365	0.84[ASN][1000 genomes]
rs28409386	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34635	0.87[ASN][1000 genomes]
rs35185283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72759289	0.90[EUR][1000 genomes]
rs9291707	1.00[CEU][hapmap];0.83[EUR][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60541600-60548400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:60541800-60552600	Weak transcription	A549	lung
3	chr5:60542000-60548600	Weak transcription	Stomach Mucosa	stomach
4	chr5:60542200-60547800	Weak transcription	Pancreas	Pancrea
5	chr5:60545200-60548200	Weak transcription	HSMM	muscle
6	chr5:60546200-60551000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:60546400-60552000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:60546800-60547200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:60547000-60547400	Enhancers	Primary monocytes fromperipheralblood	blood

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