Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70017925..70019676-chr1:70037713..70039515,2	K562	blood:
2	chr1:70032107..70035467-chr1:70038151..70041681,4	K562	blood:

Variant related genes	Relation type
ENSG00000033122	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10889840	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889842	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11209495	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11209496	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11209505	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12038666	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12084695	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122895	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1245055	0.83[ASN][1000 genomes]
rs1245059	0.85[ASN][1000 genomes]
rs1245060	0.85[ASN][1000 genomes]
rs1245062	0.85[ASN][1000 genomes]
rs1245066	0.90[ASN][1000 genomes]
rs12564056	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2025598	0.87[ASN][1000 genomes]
rs2066296	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2764536	0.83[ASN][1000 genomes]
rs2901340	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6699502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699223	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs800923	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs810347	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs810348	0.91[EUR][1000 genomes];0.87[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947267	chr1:70037153-70040397	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 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	chr1:70035600-70053200	Weak transcription	Pancreas	Pancrea
2	chr1:70037000-70040600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:70037800-70042400	Enhancers	Fetal Brain Male	brain
4	chr1:70038400-70045200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:70038800-70039800	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:70038800-70041200	Active TSS	Fetal Brain Female	brain
7	chr1:70039000-70040600	Weak transcription	Brain Angular Gyrus	brain

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