Variant report

Variant	rs73371318
Chromosome Location	chr21:17951685-17951686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13433515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444354	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28610987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371331	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9975568	0.83[AFR][1000 genomes]
rs9977599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9978284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984254	0.92[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
5	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
6	chr21:17946000-17951800	Weak transcription	NHDF-Ad	bronchial
7	chr21:17946200-17955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:17946400-17956000	Weak transcription	A549	lung
9	chr21:17946600-17956000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:17950200-17954200	Enhancers	Fetal Lung	lung
11	chr21:17950400-17953600	Enhancers	Adipose Nuclei	Adipose
12	chr21:17950400-17953800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr21:17950400-17959000	Weak transcription	Fetal Brain Male	brain
14	chr21:17950600-17952000	Enhancers	Brain Hippocampus Middle	brain
15	chr21:17950600-17952200	Enhancers	Fetal Muscle Leg	muscle
16	chr21:17950600-17952400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr21:17951000-17951800	Enhancers	Brain Substantia Nigra	brain
18	chr21:17951000-17952000	Enhancers	Brain Germinal Matrix	brain
19	chr21:17951000-17952800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:17951000-17953600	Enhancers	Colon Smooth Muscle	Colon
21	chr21:17951200-17951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:17951200-17951800	Enhancers	Osteobl	bone
23	chr21:17951200-17952200	Enhancers	HSMMtube	muscle
24	chr21:17951200-17952400	Enhancers	Liver	Liver
25	chr21:17951200-17953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:17951400-17951800	Enhancers	Brain Anterior Caudate	brain
27	chr21:17951400-17951800	Enhancers	Right Atrium	heart
28	chr21:17951400-17952000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:17951400-17952000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:17951400-17952000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr21:17951400-17952000	Enhancers	Fetal Brain Female	brain
32	chr21:17951400-17952200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:17951400-17952200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr21:17951400-17952200	Enhancers	Left Ventricle	heart
35	chr21:17951400-17952200	Enhancers	Ovary	ovary
36	chr21:17951400-17952800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:17951400-17953400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:17951400-17953400	Enhancers	Rectal Smooth Muscle	rectum
39	chr21:17951600-17951800	Enhancers	Stomach Smooth Muscle	stomach
40	chr21:17951600-17952200	Active TSS	Aorta	Aorta
41	chr21:17951600-17952200	Enhancers	NH-A	brain
42	chr21:17951600-17952400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:17951600-17953000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:17951600-17953000	Weak transcription	Fetal Stomach	stomach
45	chr21:17951600-17953400	Enhancers	Brain Angular Gyrus	brain
46	chr21:17951600-17953400	Enhancers	HSMM	muscle

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