Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31227706..31229647-chr22:31232434..31234862,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13055067	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs136232	0.94[ASN][1000 genomes]
rs136233	0.80[ASN][1000 genomes]
rs57084031	0.81[ASN][1000 genomes]
rs5749166	0.81[EUR][1000 genomes]
rs5749167	0.82[ASN][1000 genomes]
rs5749169	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749171	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749173	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753334	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753335	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753336	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753340	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753348	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57707485	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61049226	0.84[ASN][1000 genomes]
rs62235916	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62235942	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs742205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522377	chr22:31232074-31249333	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv914973	chr22:31232074-31264281	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31227400-31233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:31227800-31233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:31228000-31233600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:31228200-31233600	Weak transcription	HMEC	breast
5	chr22:31228200-31233600	Weak transcription	NHDF-Ad	bronchial
6	chr22:31229400-31238800	Weak transcription	HSMM	muscle
7	chr22:31231800-31234400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:31232200-31233600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:31232200-31233800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr22:31232400-31234400	Enhancers	Brain Cingulate Gyrus	brain
11	chr22:31232400-31234600	Enhancers	Placenta	Placenta
12	chr22:31232400-31234600	Genic enhancers	NHEK	skin
13	chr22:31232600-31233400	Weak transcription	A549	lung
14	chr22:31232600-31234400	Enhancers	Brain Angular Gyrus	brain
15	chr22:31232800-31236400	Weak transcription	Brain Anterior Caudate	brain
16	chr22:31233000-31233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:31233000-31233600	Weak transcription	Hela-S3	cervix
18	chr22:31233200-31233800	Enhancers	Fetal Brain Male	brain

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