Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:36239741..36244027-chr5:36245562..36251114,9	MCF-7	breast:
2	chr5:36246082..36249098-chr5:36250813..36253857,3	MCF-7	breast:
3	chr5:36246768..36250424-chr5:36250842..36254157,3	MCF-7	breast:
4	chr5:36239787..36244409-chr5:36245877..36249141,6	MCF-7	breast:
5	chr5:36246613..36249603-chr5:36252425..36254009,2	K562	blood:
6	chr5:36220643..36222871-chr5:36245058..36247762,2	K562	blood:

Variant related genes	Relation type
ENSG00000245711	Chromatin interaction
ENSG00000152620	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10041692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045424	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10060125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10062736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068981	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069006	0.86[EUR][1000 genomes]
rs10076051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079910	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10473004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359244	0.86[EUR][1000 genomes]
rs16902914	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28419346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28479931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869632	1.00[EUR][1000 genomes]
rs57141728	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451260	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6872093	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6892189	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9292621	0.86[EUR][1000 genomes];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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36243200-36247000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:36243200-36248000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:36243200-36252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:36243400-36252800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:36243400-36253200	Weak transcription	Aorta	Aorta
6	chr5:36245000-36252600	Weak transcription	Liver	Liver
7	chr5:36246200-36253000	Weak transcription	Ovary	ovary

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