Variant report

Variant	rs2830530
Chromosome Location	chr21:28167687-28167688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11702792	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830518	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2830520	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2830524	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2830535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28368558	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4816293	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4816294	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62215752	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28156200-28168200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr21:28163000-28167800	Weak transcription	Fetal Stomach	stomach
3	chr21:28163600-28168200	Weak transcription	Fetal Lung	lung
4	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:28167200-28168400	Enhancers	Dnd41	blood
6	chr21:28167200-28168600	Enhancers	Ovary	ovary
7	chr21:28167600-28167800	Enhancers	Brain Angular Gyrus	brain
8	chr21:28167600-28168000	Enhancers	Osteobl	bone
9	chr21:28167600-28168400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr21:28167600-28168400	Flanking Active TSS	Hela-S3	cervix
11	chr21:28167600-28168600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:28167600-28168600	Enhancers	NH-A	brain
13	chr21:28167600-28168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:28167600-28169200	Enhancers	Brain Germinal Matrix	brain
15	chr21:28167600-28169400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr21:28167600-28169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

Quick Search:

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

what's new

Quick links