Variant report

Variant	rs73381670
Chromosome Location	chr21:17932218-17932219
allele	A/G
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]
rs58962592	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60906127	1.00[EUR][1000 genomes]
rs7279589	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282899	1.00[EUR][1000 genomes]
rs73363505	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363538	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369498	1.00[EUR][1000 genomes]
rs73369769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381672	0.98[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:36 , 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	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
5	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
7	chr21:17918000-17935600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:17918600-17935800	Weak transcription	Fetal Stomach	stomach
9	chr21:17919000-17935800	Weak transcription	HSMMtube	muscle
10	chr21:17922800-17935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:17923800-17942000	Weak transcription	Right Ventricle	heart
12	chr21:17924000-17935000	Weak transcription	HSMM	muscle
13	chr21:17924000-17935400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:17924200-17941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
16	chr21:17926000-17934400	Weak transcription	Hela-S3	cervix
17	chr21:17926200-17935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:17927200-17935800	Weak transcription	Right Atrium	heart
19	chr21:17927200-17942000	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
21	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:17927400-17935800	Weak transcription	HUVEC	blood vessel
23	chr21:17927400-17936000	Weak transcription	Ovary	ovary
24	chr21:17927400-17942000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr21:17927600-17933600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:17927600-17934200	Weak transcription	Left Ventricle	heart
27	chr21:17929000-17934200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:17929000-17935400	Weak transcription	Liver	Liver
29	chr21:17929000-17935600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:17929000-17935800	Weak transcription	Fetal Muscle Leg	muscle
31	chr21:17929000-17936200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:17929000-17938200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr21:17930200-17932400	Weak transcription	A549	lung
34	chr21:17930200-17942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr21:17930600-17932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:17931800-17932800	Enhancers	Fetal Brain Female	brain

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