Variant report

Variant	rs9980758
Chromosome Location	chr21:17954448-17954449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17000140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000782	1.00[ASN][1000 genomes]
rs2186869	1.00[ASN][1000 genomes]
rs2823887	1.00[ASN][1000 genomes]
rs2823889	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28488116	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28578155	1.00[EUR][1000 genomes]
rs3803998	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58627197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283757	1.00[ASN][1000 genomes]
rs73363543	1.00[ASN][1000 genomes]
rs73363546	0.92[ASN][1000 genomes]
rs73371307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73371330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974715	1.00[EUR][1000 genomes]
rs9980357	1.00[ASN][1000 genomes]
rs9982294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984854	1.00[EUR][1000 genomes];1.00[ASN][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:39 , 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	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
5	chr21:17946200-17955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:17946400-17956000	Weak transcription	A549	lung
7	chr21:17946600-17956000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:17950400-17959000	Weak transcription	Fetal Brain Male	brain
9	chr21:17952000-17959200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:17952200-17955800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:17952200-17958800	Weak transcription	HSMMtube	muscle
12	chr21:17952200-17959000	Weak transcription	NHDF-Ad	bronchial
13	chr21:17952200-17959200	Weak transcription	Aorta	Aorta
14	chr21:17952200-17959400	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:17952200-17959400	Weak transcription	Left Ventricle	heart
16	chr21:17952200-17959400	Weak transcription	Ovary	ovary
17	chr21:17952200-17959400	Weak transcription	NH-A	brain
18	chr21:17952400-17955600	Weak transcription	Right Atrium	heart
19	chr21:17952400-17955800	Weak transcription	Osteobl	bone
20	chr21:17952400-17958600	Weak transcription	Fetal Brain Female	brain
21	chr21:17952800-17958400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:17953000-17958400	Weak transcription	Liver	Liver
23	chr21:17953200-17958600	Weak transcription	Brain Anterior Caudate	brain
24	chr21:17953400-17958400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:17953400-17958600	Weak transcription	Brain Substantia Nigra	brain
26	chr21:17953400-17958600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:17953400-17959200	Weak transcription	Brain Angular Gyrus	brain
28	chr21:17953400-17959400	Weak transcription	HSMM	muscle
29	chr21:17953600-17955800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:17953600-17955800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr21:17953600-17956000	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:17953600-17956200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:17953600-17958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:17953600-17958800	Weak transcription	Colon Smooth Muscle	Colon
35	chr21:17953600-17959200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr21:17953600-17959400	Weak transcription	Adipose Nuclei	Adipose
37	chr21:17953800-17956000	Weak transcription	Brain Germinal Matrix	brain
38	chr21:17953800-17958400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr21:17954200-17958400	Weak transcription	Fetal Lung	lung

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