Variant report

Variant	rs62222223
Chromosome Location	chr21:17941638-17941639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11701243	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2000626	0.94[EUR][1000 genomes]
rs2823881	0.94[EUR][1000 genomes]
rs2823884	0.91[EUR][1000 genomes]
rs62222220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62222221	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62222222	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62222224	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8126898	0.92[EUR][1000 genomes]
rs977876	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
2	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:17923800-17942000	Weak transcription	Right Ventricle	heart
5	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
6	chr21:17927200-17942000	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
8	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:17927400-17942000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:17930200-17942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr21:17935400-17942000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:17936400-17941800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:17936400-17941800	Weak transcription	NH-A	brain
15	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
16	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:17936600-17942000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:17936600-17943200	Weak transcription	Ovary	ovary
19	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
21	chr21:17936800-17942000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:17937000-17942000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:17937000-17942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:17938800-17942200	Enhancers	A549	lung
26	chr21:17940800-17942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:17940800-17943200	Enhancers	Hela-S3	cervix
28	chr21:17941000-17942200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:17941000-17942400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:17941000-17942400	Enhancers	HSMMtube	muscle
31	chr21:17941000-17942600	Enhancers	Osteobl	bone
32	chr21:17941000-17943000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:17941000-17943200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr21:17941200-17947000	Enhancers	HSMM	muscle
35	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
36	chr21:17941400-17942000	Weak transcription	HMEC	breast
37	chr21:17941400-17943000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr21:17941600-17943000	Weak transcription	Aorta	Aorta
39	chr21:17941600-17944000	Enhancers	HUES64 Cell Line	embryonic stem cell

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