Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:222693917..222695731-chr1:222697351..222700726,3	K562	blood:
2	chr1:222693122..222695391-chr1:222762948..222765131,2	K562	blood:
3	chr1:222694203..222695731-chr1:222698094..222700726,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10495191	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487523	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17163157	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17163177	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17163185	0.92[EUR][1000 genomes]
rs17163186	0.92[EUR][1000 genomes]
rs34151606	0.95[EUR][1000 genomes]
rs34229050	0.93[EUR][1000 genomes]
rs34513020	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34917654	0.95[EUR][1000 genomes]
rs35147531	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35280999	0.95[EUR][1000 genomes]
rs35455442	0.93[EUR][1000 genomes]
rs35692317	0.89[EUR][1000 genomes]
rs35746652	0.95[EUR][1000 genomes]
rs35832897	0.95[EUR][1000 genomes]
rs35917524	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35948365	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748662	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3748664	0.95[EUR][1000 genomes]
rs3748666	0.95[EUR][1000 genomes]
rs4846764	0.95[EUR][1000 genomes]
rs4846765	0.93[EUR][1000 genomes]
rs61825519	0.95[EUR][1000 genomes]
rs61825520	0.95[EUR][1000 genomes]
rs61825521	0.95[EUR][1000 genomes]
rs61825522	0.95[EUR][1000 genomes]
rs66459971	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr1:222681200-222695200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:222694200-222695600	Enhancers	Fetal Kidney	kidney
3	chr1:222694200-222695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:222694200-222696200	Enhancers	Hela-S3	cervix
5	chr1:222694200-222696200	Enhancers	HepG2	liver
6	chr1:222694400-222695200	Enhancers	A549	lung
7	chr1:222694400-222696800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:222694400-222696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:222694600-222694800	Enhancers	Adipose Nuclei	Adipose
10	chr1:222694600-222695000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:222694600-222695200	Weak transcription	Liver	Liver

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