Variant report

Variant	rs73893742
Chromosome Location	chr21:17912394-17912395
allele	A/C
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:9)

rs_ID	r²[population]
rs1470638	1.00[AMR][1000 genomes]
rs16997448	1.00[AMR][1000 genomes]
rs16997493	1.00[AMR][1000 genomes]
rs16997505	1.00[AMR][1000 genomes]
rs2122251	1.00[AMR][1000 genomes]
rs2896758	1.00[AMR][1000 genomes]
rs4386398	1.00[AMR][1000 genomes]
rs57127051	1.00[AFR][1000 genomes]
rs8131137	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3405994	chr21:17895130-17912420	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	292 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17904600-17914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:17906400-17912400	Active TSS	Right Atrium	heart
3	chr21:17906800-17912400	Active TSS	Fetal Brain Female	brain
4	chr21:17908200-17912400	Active TSS	Fetal Brain Male	brain
5	chr21:17908800-17918400	Weak transcription	Fetal Stomach	stomach
6	chr21:17909600-17926800	Weak transcription	Fetal Kidney	kidney
7	chr21:17909800-17926600	Weak transcription	Fetal Heart	heart
8	chr21:17909800-17927000	Weak transcription	Left Ventricle	heart
9	chr21:17910000-17913400	Weak transcription	A549	lung
10	chr21:17910200-17913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
12	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:17910600-17913600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:17910600-17923600	Weak transcription	HSMM	muscle
15	chr21:17910600-17928600	Weak transcription	Liver	Liver
16	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr21:17911000-17913400	Weak transcription	Hela-S3	cervix
18	chr21:17911000-17920000	Weak transcription	NH-A	brain
19	chr21:17911000-17923600	Weak transcription	Osteobl	bone
20	chr21:17911200-17913600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr21:17911200-17916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:17911600-17913200	Weak transcription	Brain Hippocampus Middle	brain
23	chr21:17911600-17914200	Weak transcription	Psoas Muscle	Psoas
24	chr21:17911800-17912800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:17911800-17913000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:17911800-17913000	Strong transcription	Fetal Lung	lung
27	chr21:17911800-17915600	Weak transcription	Ovary	ovary
28	chr21:17912000-17912800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:17912000-17912800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:17912000-17912800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr21:17912000-17912800	Strong transcription	Fetal Muscle Leg	muscle
32	chr21:17912000-17912800	Strong transcription	HUVEC	blood vessel
33	chr21:17912000-17914200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:17912200-17912400	Enhancers	Brain Germinal Matrix	brain
35	chr21:17912200-17912800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
37	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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