Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55841013	1.00[AMR][1000 genomes]
rs55858102	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56104306	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56127349	0.94[AFR][1000 genomes]
rs57021529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57614295	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58511316	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58832459	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58902211	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59786430	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60486108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61467505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6518715	1.00[AMR][1000 genomes]
rs6518716	1.00[AMR][1000 genomes]
rs6518717	1.00[AMR][1000 genomes]
rs7284605	1.00[ASN][1000 genomes]
rs7289612	1.00[AMR][1000 genomes]
rs73402248	1.00[AMR][1000 genomes]
rs73402267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402268	1.00[ASN][1000 genomes]
rs73402291	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31226800-31233200	Weak transcription	Fetal Brain Male	brain
2	chr22:31227200-31232600	Weak transcription	Brain Angular Gyrus	brain
3	chr22:31227400-31232400	Weak transcription	Brain Anterior Caudate	brain
4	chr22:31227400-31233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:31227600-31232200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:31227600-31232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:31227600-31232400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr22:31227800-31233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:31228000-31233600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:31228200-31232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:31228200-31233600	Weak transcription	HMEC	breast
12	chr22:31228200-31233600	Weak transcription	NHDF-Ad	bronchial
13	chr22:31229400-31238800	Weak transcription	HSMM	muscle
14	chr22:31229600-31231800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31229600-31232200	Weak transcription	A549	lung
16	chr22:31229800-31233000	Genic enhancers	Hela-S3	cervix
17	chr22:31231400-31232400	Enhancers	NHEK	skin

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