Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51990431..51994051-chr19:51995384..51999380,3	K562	blood:
2	chr19:51988538..51991179-chr19:51992486..51994014,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10411438	1.00[EUR][1000 genomes]
rs10413469	0.98[EUR][1000 genomes]
rs12327789	1.00[EUR][1000 genomes]
rs12327792	1.00[EUR][1000 genomes]
rs12327796	1.00[EUR][1000 genomes]
rs12327808	1.00[EUR][1000 genomes]
rs12459938	1.00[AFR][1000 genomes]
rs4267441	1.00[EUR][1000 genomes]
rs55731985	1.00[ASN][1000 genomes]
rs62113285	1.00[AFR][1000 genomes]
rs62114983	1.00[AFR][1000 genomes]
rs62114987	1.00[AFR][1000 genomes]
rs62115064	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115067	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115078	0.94[EUR][1000 genomes]
rs62115079	0.98[EUR][1000 genomes]
rs62115080	1.00[EUR][1000 genomes]
rs62116163	1.00[EUR][1000 genomes]
rs62116166	1.00[ASN][1000 genomes]
rs62116174	1.00[ASN][1000 genomes]
rs62116361	1.00[ASN][1000 genomes]
rs62116364	1.00[ASN][1000 genomes]
rs62116365	1.00[ASN][1000 genomes]
rs62116366	1.00[ASN][1000 genomes]
rs62116367	1.00[ASN][1000 genomes]
rs62116368	1.00[ASN][1000 genomes]
rs726763	1.00[EUR][1000 genomes]
rs73067310	1.00[ASN][1000 genomes]
rs73067312	1.00[ASN][1000 genomes]
rs73067320	1.00[ASN][1000 genomes]
rs73067322	1.00[ASN][1000 genomes]
rs73067324	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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3398009	chr19:51987240-51991538	Strong transcription Weak transcription	Chromatin interactive region	1 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	chr19:51984600-51998800	Weak transcription	Fetal Intestine Large	intestine
2	chr19:51988600-51993200	Weak transcription	Fetal Intestine Small	intestine
3	chr19:51989800-51998800	Weak transcription	Duodenum Mucosa	Duodenum

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