Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180710308..180712381-chr2:180720842..180723384,2	K562	blood:
2	chr2:180721435..180722983-chr2:180725390..180727274,2	K562	blood:

Variant related genes	Relation type
ENSG00000221240	Chromatin interaction
ENSG00000144331	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1480702	0.82[AFR][1000 genomes]
rs1486232	1.00[ASN][1000 genomes]
rs165383	1.00[ASN][1000 genomes]
rs16867038	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17775571	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775913	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775991	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776109	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831624	0.88[EUR][1000 genomes]
rs17831917	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187744	1.00[ASN][1000 genomes]
rs2169484	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781930	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59351466	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59429726	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59777414	1.00[ASN][1000 genomes]
rs6738348	1.00[ASN][1000 genomes]
rs6756801	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73973749	0.88[EUR][1000 genomes]
rs73973764	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180706800-180724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180718200-180723600	Weak transcription	Liver	Liver
3	chr2:180720800-180721800	Weak transcription	Stomach Smooth Muscle	stomach

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