Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28868844..28871454-chr22:28874181..28875792,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11912125	0.87[EUR][1000 genomes]
rs11912717	0.87[EUR][1000 genomes]
rs13053405	0.94[EUR][1000 genomes]
rs13054496	0.97[EUR][1000 genomes]
rs13054508	0.91[EUR][1000 genomes]
rs13055501	0.97[EUR][1000 genomes]
rs13055576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13055649	0.82[EUR][1000 genomes]
rs13056776	0.94[EUR][1000 genomes]
rs34188840	0.94[EUR][1000 genomes]
rs34277219	0.94[EUR][1000 genomes]
rs34586539	0.81[EUR][1000 genomes]
rs34780660	0.81[EUR][1000 genomes]
rs34843903	1.00[EUR][1000 genomes]
rs34929472	1.00[EUR][1000 genomes]
rs34970554	1.00[EUR][1000 genomes]
rs34994167	0.97[EUR][1000 genomes]
rs35230579	0.90[EUR][1000 genomes]
rs35286648	1.00[EUR][1000 genomes]
rs35507981	1.00[EUR][1000 genomes]
rs35719457	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs36100499	0.94[EUR][1000 genomes]
rs57062250	0.81[EUR][1000 genomes]
rs58433661	0.94[EUR][1000 genomes]
rs71316850	0.85[EUR][1000 genomes]
rs71325299	1.00[EUR][1000 genomes]
rs71327305	0.90[EUR][1000 genomes]
rs7286202	0.97[EUR][1000 genomes]
rs8136113	0.94[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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28861400-28875800	Weak transcription	Fetal Muscle Leg	muscle
2	chr22:28861600-28880200	Weak transcription	Ovary	ovary
3	chr22:28862800-28874800	Weak transcription	Fetal Brain Female	brain
4	chr22:28867800-28873600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:28869000-28873600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:28869600-28870800	Enhancers	Duodenum Mucosa	Duodenum
7	chr22:28869600-28871400	Enhancers	Fetal Intestine Large	intestine
8	chr22:28870000-28871000	Enhancers	HepG2	liver
9	chr22:28870200-28870800	Enhancers	Dnd41	blood
10	chr22:28870400-28870800	Enhancers	Small Intestine	intestine
11	chr22:28870600-28871200	Weak transcription	Fetal Intestine Small	intestine

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