Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1116556	0.86[EUR][1000 genomes]
rs1116557	0.86[EUR][1000 genomes]
rs2148919	0.80[EUR][1000 genomes]
rs2148920	0.83[EUR][1000 genomes]
rs2148921	0.83[EUR][1000 genomes]
rs2148922	0.83[EUR][1000 genomes]
rs2148923	0.87[EUR][1000 genomes]
rs2896874	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4999222	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs6036177	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036178	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036192	0.87[EUR][1000 genomes]
rs6036194	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6075938	0.86[EUR][1000 genomes]
rs6082792	0.80[EUR][1000 genomes]
rs6082793	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6082797	0.87[EUR][1000 genomes]
rs6132540	0.86[EUR][1000 genomes]
rs6132541	0.86[EUR][1000 genomes]
rs6132542	0.87[EUR][1000 genomes]
rs6132543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6137732	CST3	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22696000-22701000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:22698400-22704000	Weak transcription	HSMMtube	muscle
4	chr20:22698400-22705800	Weak transcription	Right Atrium	heart
5	chr20:22698800-22708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:22699200-22701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:22699600-22701600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:22699800-22703400	Weak transcription	Lung	lung
9	chr20:22699800-22703600	Weak transcription	Left Ventricle	heart
10	chr20:22700200-22703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:22700200-22703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:22700200-22703400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr20:22700200-22703600	Weak transcription	Spleen	Spleen
14	chr20:22700200-22705800	Weak transcription	A549	lung
15	chr20:22700600-22703600	Weak transcription	Fetal Muscle Leg	muscle
16	chr20:22700600-22703800	Weak transcription	Stomach Mucosa	stomach
17	chr20:22700600-22705800	Weak transcription	Hela-S3	cervix

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