Variant report

No.	Distal block	Cell Line	Cell type
1	chr20:23044407..23046627-chr20:23047753..23050587,2	K562	blood:
2	chr20:23041745..23043295-chr20:23045027..23046542,2	K562	blood:
3	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:
4	chr20:23041795..23043675-chr20:23045042..23047650,2	K562	blood:
5	chr20:23029568..23032012-chr20:23045469..23047379,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1040585	0.91[CEU][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16984890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1998082	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2144940	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424504	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2424505	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2424508	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424512	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2424514	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424515	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2567617	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749812	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7492	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23038400-23046600	Enhancers	Fetal Lung	lung
2	chr20:23040200-23046800	Enhancers	Fetal Stomach	stomach
3	chr20:23042200-23046200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:23043200-23046400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:23043600-23053000	Weak transcription	Ovary	ovary
7	chr20:23043600-23054000	Weak transcription	Lung	lung
8	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
9	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
10	chr20:23043800-23046200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr20:23043800-23055200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr20:23044200-23047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr20:23044800-23053000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr20:23045000-23051800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr20:23045400-23047000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:23045800-23046400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:23045800-23046400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr20:23045800-23046400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:23045800-23046800	Enhancers	GM12878-XiMat	blood
20	chr20:23046000-23046800	Enhancers	Stomach Mucosa	stomach

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