Variant report

Variant	rs58484329
Chromosome Location	chr21:18213375-18213376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57349080	1.00[AMR][1000 genomes]
rs57443172	1.00[AMR][1000 genomes]
rs73894166	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv915742	chr21:18022813-18339999	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2751924	chr21:18169497-18541529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18209600-18214400	Enhancers	Brain Germinal Matrix	brain
2	chr21:18210200-18213600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr21:18210200-18214200	Weak transcription	Brain Anterior Caudate	brain
4	chr21:18210400-18214600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:18210600-18214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:18210600-18214600	Weak transcription	Brain Substantia Nigra	brain
7	chr21:18210600-18214600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:18210600-18215200	Enhancers	Fetal Brain Male	brain
9	chr21:18210800-18214400	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:18210800-18214800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:18211000-18214000	Weak transcription	Fetal Brain Female	brain
12	chr21:18211000-18214800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:18211200-18214200	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:18211200-18215000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:18213000-18213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:18213000-18213600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:18213000-18214000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:18213000-18214400	Enhancers	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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