Variant report

Variant	rs8129337
Chromosome Location	chr21:17829364-17829365
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12481827	1.00[JPT][hapmap]
rs12482215	1.00[JPT][hapmap]
rs12483358	1.00[JPT][hapmap]
rs12483744	1.00[JPT][hapmap]
rs2000781	1.00[EUR][1000 genomes]
rs2212561	1.00[JPT][hapmap]
rs2823823	1.00[JPT][hapmap]
rs2823857	1.00[JPT][hapmap]
rs2823858	1.00[JPT][hapmap]
rs2823859	1.00[JPT][hapmap]
rs2823860	1.00[JPT][hapmap]
rs2823861	1.00[JPT][hapmap]
rs2823864	1.00[JPT][hapmap]
rs2823885	1.00[EUR][1000 genomes]
rs2823890	1.00[EUR][1000 genomes]
rs8129300	1.00[JPT][hapmap]
rs8129781	1.00[EUR][1000 genomes]
rs8129839	1.00[JPT][hapmap]
rs8132608	1.00[JPT][hapmap]
rs8133048	1.00[EUR][1000 genomes]
rs8133774	1.00[JPT][hapmap]
rs8134051	1.00[EUR][1000 genomes]
rs8134294	1.00[JPT][hapmap]

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	chr21:17827600-17829400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr21:17828600-17829800	Weak transcription	Right Atrium	heart
5	chr21:17828600-17829800	Weak transcription	Right Ventricle	heart
6	chr21:17828600-17833400	Weak transcription	Esophagus	oesophagus
7	chr21:17828800-17829800	Weak transcription	Ovary	ovary
8	chr21:17828800-17829800	Weak transcription	Psoas Muscle	Psoas
9	chr21:17828800-17829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:17828800-17829800	Weak transcription	HSMMtube	muscle
11	chr21:17828800-17831200	Weak transcription	Brain Angular Gyrus	brain
12	chr21:17828800-17833600	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:17828800-17834600	Weak transcription	Left Ventricle	heart
14	chr21:17828800-17835000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:17829000-17829600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17829000-17830200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr21:17829000-17830200	Enhancers	Brain Anterior Caudate	brain
18	chr21:17829000-17831000	Weak transcription	Brain Substantia Nigra	brain
19	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:17829200-17829600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:17829200-17829600	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr21:17829200-17829600	Enhancers	Fetal Brain Female	brain
23	chr21:17829200-17830000	Enhancers	Brain Cingulate Gyrus	brain
24	chr21:17829200-17830200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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