Variant report

Variant	rs11684970
Chromosome Location	chr2:31363466-31363467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10190164	0.81[ASN][1000 genomes]
rs11675787	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12989636	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13408448	0.80[ASN][1000 genomes]
rs2008535	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs57938947	0.83[ASN][1000 genomes]
rs59588353	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60245472	0.93[ASN][1000 genomes]
rs6543605	0.87[ASN][1000 genomes]
rs6743542	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6747497	0.89[ASN][1000 genomes]
rs7560583	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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:5 , 50 per page) page: 1

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