Variant report

Variant	rs73891609
Chromosome Location	chr21:17962924-17962925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10084583	1.00[EUR][1000 genomes]
rs10470097	1.00[EUR][1000 genomes]
rs11910639	1.00[EUR][1000 genomes]
rs28750139	1.00[EUR][1000 genomes]
rs55725525	1.00[EUR][1000 genomes]
rs59398000	1.00[EUR][1000 genomes]
rs59613864	1.00[EUR][1000 genomes]
rs73369752	1.00[EUR][1000 genomes]
rs73891587	1.00[EUR][1000 genomes]
rs73891590	1.00[EUR][1000 genomes]
rs73891608	1.00[EUR][1000 genomes]
rs73891610	1.00[EUR][1000 genomes]
rs73891615	1.00[EUR][1000 genomes]
rs73891620	1.00[EUR][1000 genomes]
rs73891621	1.00[EUR][1000 genomes]
rs73891622	1.00[EUR][1000 genomes]
rs73891630	1.00[EUR][1000 genomes]
rs73891632	1.00[EUR][1000 genomes]
rs73893766	1.00[EUR][1000 genomes]
rs9980238	1.00[EUR][1000 genomes]
rs9982363	1.00[EUR][1000 genomes]
rs9983563	1.00[EUR][1000 genomes]
rs9983994	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17959400-17963200	Active TSS	Brain Angular Gyrus	brain
2	chr21:17960000-17963200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:17960000-17963400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:17960000-17963600	Active TSS	Brain Anterior Caudate	brain
5	chr21:17960000-17970600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:17960600-17963600	Active TSS	Fetal Brain Female	brain
7	chr21:17961000-17964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:17961200-17964200	Weak transcription	Fetal Lung	lung
9	chr21:17961200-17968400	Weak transcription	Liver	Liver
10	chr21:17961200-17970200	Weak transcription	Psoas Muscle	Psoas
11	chr21:17961200-17971200	Weak transcription	Esophagus	oesophagus
12	chr21:17961200-17978000	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:17961200-17978000	Weak transcription	Left Ventricle	heart
14	chr21:17961200-17978000	Weak transcription	Ovary	ovary
15	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
18	chr21:17961400-17964600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:17961400-17964800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:17961400-17968600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:17961400-17968800	Weak transcription	Fetal Kidney	kidney
22	chr21:17961400-17977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
24	chr21:17961400-17984000	Weak transcription	Osteobl	bone
25	chr21:17961800-17963200	Active TSS	Fetal Brain Male	brain
26	chr21:17961800-17973400	Weak transcription	HUVEC	blood vessel
27	chr21:17962000-17963000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
29	chr21:17962400-17963200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr21:17962600-17963000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr21:17962600-17963200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr21:17962800-17963000	Active TSS	Brain Germinal Matrix	brain
33	chr21:17962800-17963200	Enhancers	Adipose Nuclei	Adipose
34	chr21:17962800-17963200	Active TSS	Brain Substantia Nigra	brain
35	chr21:17962800-17963400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:17962800-17963400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr21:17962800-17964400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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