Variant report

Variant	rs58962592
Chromosome Location	chr21:17937502-17937503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2823867	1.00[EUR][1000 genomes]
rs2823871	1.00[EUR][1000 genomes]
rs2823874	1.00[EUR][1000 genomes]
rs2823875	1.00[EUR][1000 genomes]
rs4816732	1.00[EUR][1000 genomes]
rs4818275	1.00[EUR][1000 genomes]
rs60906127	1.00[EUR][1000 genomes]
rs7279589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282899	1.00[EUR][1000 genomes]
rs73363505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369498	1.00[EUR][1000 genomes]
rs73369769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369789	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381666	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs762301	1.00[AMR][1000 genomes]
rs8131578	1.00[EUR][1000 genomes]
rs9980715	1.00[EUR][1000 genomes]
rs9981734	1.00[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:42 , 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	chr21:17924200-17941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
7	chr21:17927200-17942000	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
9	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:17927400-17942000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr21:17929000-17938200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:17930200-17942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:17932800-17939800	Weak transcription	Fetal Brain Female	brain
14	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:17935400-17942000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:17936000-17937600	Enhancers	Fetal Heart	heart
17	chr21:17936200-17941400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr21:17936400-17937600	Enhancers	A549	lung
19	chr21:17936400-17939800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:17936400-17941000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr21:17936400-17941000	Weak transcription	HSMMtube	muscle
22	chr21:17936400-17941000	Weak transcription	Osteobl	bone
23	chr21:17936400-17941800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:17936400-17941800	Weak transcription	NH-A	brain
25	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
26	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:17936600-17941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:17936600-17941000	Weak transcription	Right Atrium	heart
29	chr21:17936600-17942000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:17936600-17943200	Weak transcription	Ovary	ovary
31	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
33	chr21:17936800-17941600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:17936800-17942000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:17937000-17942000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:17937000-17942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:17937200-17937600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:17937200-17940800	Weak transcription	Hela-S3	cervix
40	chr21:17937200-17941000	Weak transcription	HSMM	muscle
41	chr21:17937200-17941200	Weak transcription	HMEC	breast
42	chr21:17937400-17941200	Weak transcription	Liver	Liver

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