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:12)

rs_ID	r²[population]
rs13038379	0.80[CEU][hapmap]
rs1318041	0.93[EUR][1000 genomes]
rs17682515	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998080	0.84[TSI][hapmap]
rs2749813	0.81[TSI][hapmap]
rs2896939	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs4813477	0.94[EUR][1000 genomes]
rs6113917	0.94[EUR][1000 genomes]
rs6113921	0.94[EUR][1000 genomes]
rs6113922	0.94[EUR][1000 genomes]
rs6113924	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs8123616	0.81[CEU][hapmap];0.90[GIH][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17682491	THBD	cis	parietal	SCAN

Chromatin state (count:20 , 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	chr20:23057800-23058000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:23057800-23058000	Enhancers	Fetal Muscle Trunk	muscle
18	chr20:23057800-23058000	Enhancers	Left Ventricle	heart
19	chr20:23057800-23058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:23057800-23062000	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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