Variant report

Variant	rs57938947
Chromosome Location	chr2:31362861-31362862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10190164	0.95[ASN][1000 genomes]
rs11684970	0.83[ASN][1000 genomes]
rs12105231	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13408448	0.94[ASN][1000 genomes]
rs1562023	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17010764	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2008535	0.82[ASN][1000 genomes]
rs59588353	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6543605	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6543606	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6543607	0.94[ASN][1000 genomes]
rs6706156	0.87[ASN][1000 genomes]
rs6708641	0.94[ASN][1000 genomes]
rs7560152	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7560583	0.81[ASN][1000 genomes]
rs7564367	0.94[ASN][1000 genomes]
rs7596724	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs956747	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31360800-31365400	Enhancers	Fetal Brain Male	brain
2	chr2:31361800-31363400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:31361800-31365200	Enhancers	Fetal Brain Female	brain
4	chr2:31361800-31369400	Weak transcription	Right Atrium	heart
5	chr2:31362000-31364200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:31362200-31364400	Weak transcription	Brain Germinal Matrix	brain

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

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