Variant report

Variant	rs57239120
Chromosome Location	chr21:40876342-40876343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40870583..40873437-chr21:40873635..40876593,2	K562	blood:

Variant related genes	Relation type
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11088480	0.83[EUR][1000 genomes]
rs1522	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16997780	0.96[EUR][1000 genomes]
rs2091242	0.96[EUR][1000 genomes]
rs2091243	0.96[EUR][1000 genomes]
rs2103152	0.96[EUR][1000 genomes]
rs2837056	0.96[EUR][1000 genomes]
rs2837057	0.96[EUR][1000 genomes]
rs2837058	0.94[EUR][1000 genomes]
rs2837060	0.96[EUR][1000 genomes]
rs2837061	0.96[EUR][1000 genomes]
rs2837062	0.96[EUR][1000 genomes]
rs2837064	0.96[EUR][1000 genomes]
rs2837065	0.96[EUR][1000 genomes]
rs2837066	0.96[EUR][1000 genomes]
rs2837067	0.96[EUR][1000 genomes]
rs7281425	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7281794	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7282142	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7283949	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8130969	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8131078	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8133147	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1067330	chr21:40841948-40879552	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2755103	chr21:40847196-40877805	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
3	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr21:40872600-40878400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:40874000-40877200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr21:40874600-40876600	Enhancers	Fetal Heart	heart
7	chr21:40874600-40883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:40874800-40887000	Weak transcription	Aorta	Aorta
9	chr21:40875200-40890400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:40875400-40877000	Enhancers	Pancreas	Pancrea
11	chr21:40875400-40890200	Weak transcription	Brain Hippocampus Middle	brain
12	chr21:40875400-40890400	Weak transcription	Fetal Lung	lung
13	chr21:40875600-40876400	Enhancers	Psoas Muscle	Psoas
14	chr21:40875800-40876400	Enhancers	Left Ventricle	heart
15	chr21:40875800-40895200	Weak transcription	Brain Substantia Nigra	brain
16	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:40876200-40876400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:40876200-40876400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:40876200-40876400	Enhancers	Brain Cingulate Gyrus	brain
20	chr21:40876200-40876400	Enhancers	Gastric	stomach
21	chr21:40876200-40876600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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