Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23046539..23049855-chr20:23055355..23058512,3	K562	blood:
2	chr20:23050588..23053168-chr20:23056327..23058098,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1040588	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1821119	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1835702	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1835703	0.86[EUR][1000 genomes]
rs1835704	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1998079	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1998080	0.99[EUR][1000 genomes]
rs2007743	0.87[EUR][1000 genomes]
rs2019632	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2144939	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2255937	0.91[EUR][1000 genomes]
rs2424503	0.84[EUR][1000 genomes]
rs2424509	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2424510	0.91[EUR][1000 genomes]
rs2424511	0.84[EUR][1000 genomes]
rs2567619	0.96[EUR][1000 genomes]
rs2749813	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2749817	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036291	0.91[EUR][1000 genomes]
rs6048526	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6048533	0.97[EUR][1000 genomes]
rs6076016	0.83[EUR][1000 genomes]
rs6082997	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
3	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
4	chr20:23047800-23059000	Weak transcription	Right Atrium	heart
5	chr20:23050800-23061200	Weak transcription	Esophagus	oesophagus
6	chr20:23051800-23058400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr20:23053400-23061200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:23055400-23058600	Weak transcription	HUVEC	blood vessel
10	chr20:23055600-23059000	Weak transcription	Lung	lung
11	chr20:23055600-23061200	Weak transcription	Primary T cells from cord blood	blood
12	chr20:23055600-23061200	Weak transcription	Spleen	Spleen
13	chr20:23056000-23059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr20:23057000-23058400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr20:23057600-23058200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr20:23057800-23058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:23057800-23062000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr20:23058000-23059000	Weak transcription	Left Ventricle	heart
19	chr20:23058000-23059200	Weak transcription	K562	blood
20	chr20:23058000-23059600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr20:23058000-23061200	Weak transcription	Right Ventricle	heart

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