Variant report

Variant	rs61006502
Chromosome Location	chr21:17829566-17829567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55725525	1.00[AMR][1000 genomes]
rs56083400	1.00[AMR][1000 genomes]
rs59398000	1.00[AMR][1000 genomes]
rs61356708	1.00[AMR][1000 genomes]
rs73891610	1.00[AMR][1000 genomes]
rs73891612	1.00[AMR][1000 genomes]
rs73891613	1.00[AMR][1000 genomes]
rs73891614	1.00[AMR][1000 genomes]
rs73891616	1.00[AMR][1000 genomes]
rs73891617	1.00[AMR][1000 genomes]
rs73891618	1.00[AMR][1000 genomes]
rs73891619	1.00[AMR][1000 genomes]
rs73891620	1.00[AMR][1000 genomes]
rs73891621	1.00[AMR][1000 genomes]
rs73891622	1.00[AMR][1000 genomes]
rs73891630	1.00[AMR][1000 genomes]
rs8130645	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	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17826600-17829600	Enhancers	Fetal Heart	heart
2	chr21:17827200-17830600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:17828600-17829800	Weak transcription	Right Atrium	heart
4	chr21:17828600-17829800	Weak transcription	Right Ventricle	heart
5	chr21:17828600-17833400	Weak transcription	Esophagus	oesophagus
6	chr21:17828800-17829800	Weak transcription	Ovary	ovary
7	chr21:17828800-17829800	Weak transcription	Psoas Muscle	Psoas
8	chr21:17828800-17829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr21:17828800-17829800	Weak transcription	HSMMtube	muscle
10	chr21:17828800-17831200	Weak transcription	Brain Angular Gyrus	brain
11	chr21:17828800-17833600	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:17828800-17834600	Weak transcription	Left Ventricle	heart
13	chr21:17828800-17835000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr21:17829000-17829600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:17829000-17830200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr21:17829000-17830200	Enhancers	Brain Anterior Caudate	brain
17	chr21:17829000-17831000	Weak transcription	Brain Substantia Nigra	brain
18	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
19	chr21:17829200-17829600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:17829200-17829600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr21:17829200-17829600	Enhancers	Fetal Brain Female	brain
22	chr21:17829200-17830000	Enhancers	Brain Cingulate Gyrus	brain
23	chr21:17829200-17830200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:17829400-17830400	Active TSS	Skeletal Muscle Male	skeletal muscle

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