Variant report

Variant	rs13048738
Chromosome Location	chr21:17651306-17651307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11088581	0.83[ASN][1000 genomes]
rs1492960	0.83[ASN][1000 genomes]
rs183564	0.81[ASN][1000 genomes]
rs2823730	0.83[ASN][1000 genomes]
rs2823732	0.83[ASN][1000 genomes]
rs73368990	0.83[ASN][1000 genomes]
rs9637001	0.85[ASN][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	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17636400-17651600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17642600-17652400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17646800-17652000	Weak transcription	Ovary	ovary
5	chr21:17646800-17652000	Weak transcription	Psoas Muscle	Psoas
6	chr21:17649000-17652000	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:17649400-17657800	Weak transcription	Esophagus	oesophagus
8	chr21:17650400-17651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:17650400-17652000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr21:17650600-17652400	Weak transcription	Left Ventricle	heart
11	chr21:17651000-17652000	Enhancers	Liver	Liver
12	chr21:17651200-17651400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17651200-17651800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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