Variant report

Variant	rs73369769
Chromosome Location	chr21:17921269-17921270
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]
rs58962592	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60906127	1.00[EUR][1000 genomes]
rs7279589	1.00[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363538	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369498	1.00[EUR][1000 genomes]
rs73369789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381666	0.93[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17909600-17926800	Weak transcription	Fetal Kidney	kidney
2	chr21:17909800-17926600	Weak transcription	Fetal Heart	heart
3	chr21:17909800-17927000	Weak transcription	Left Ventricle	heart
4	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
5	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr21:17910600-17923600	Weak transcription	HSMM	muscle
7	chr21:17910600-17928600	Weak transcription	Liver	Liver
8	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr21:17911000-17923600	Weak transcription	Osteobl	bone
10	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
11	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:17912400-17926400	Weak transcription	Brain Germinal Matrix	brain
13	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
14	chr21:17912800-17923600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:17912800-17928400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:17913000-17923400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr21:17914000-17922000	Weak transcription	Hela-S3	cervix
18	chr21:17914200-17922800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:17914400-17922800	Weak transcription	A549	lung
20	chr21:17916200-17926800	Weak transcription	Fetal Lung	lung
21	chr21:17916200-17927000	Weak transcription	Ovary	ovary
22	chr21:17916200-17931800	Weak transcription	Fetal Brain Female	brain
23	chr21:17916400-17926800	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:17916400-17927000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:17918000-17935600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:17918400-17927800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:17918400-17928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr21:17918600-17935800	Weak transcription	Fetal Stomach	stomach
29	chr21:17919000-17935800	Weak transcription	HSMMtube	muscle

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