Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:53819656..53822349-chr6:53824906..53826764,2	K562	blood:
2	chr6:53657866..53662110-chr6:53819817..53822603,6	MCF-7	breast:
3	chr6:53657156..53661556-chr6:53818484..53821227,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948787	0.96[EUR][1000 genomes]
rs11751301	0.97[EUR][1000 genomes]
rs12190914	0.88[ASN][1000 genomes]
rs13437448	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2006013	0.90[ASN][1000 genomes]
rs2076496	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2076497	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4398734	0.80[ASN][1000 genomes]
rs4712050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5006063	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61068246	0.93[EUR][1000 genomes]
rs62396285	0.96[EUR][1000 genomes]
rs6902746	0.90[ASN][1000 genomes]
rs6927232	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6928440	0.90[ASN][1000 genomes]
rs742525	0.80[ASN][1000 genomes]
rs763813	0.97[EUR][1000 genomes]
rs763815	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7744962	0.86[ASN][1000 genomes]
rs7750173	0.82[EUR][1000 genomes]
rs7769351	0.90[ASN][1000 genomes]
rs7773779	0.90[ASN][1000 genomes]
rs9296727	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9395890	0.92[ASN][1000 genomes]
rs9395893	0.80[ASN][1000 genomes]
rs9395894	0.80[ASN][1000 genomes]
rs9474687	0.91[EUR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:53795600-53826200	Weak transcription	NHEK	skin
2	chr6:53811400-53825000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:53819000-53827000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:53819400-53821400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:53820200-53820600	Weak transcription	Dnd41	blood

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