Variant report

Variant	rs2423569
Chromosome Location	chr20:11526470-11526471
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]
rs2207908	0.82[EUR][1000 genomes]
rs2224183	0.82[EUR][1000 genomes]
rs2423550	0.82[EUR][1000 genomes]
rs2423553	0.82[EUR][1000 genomes]
rs2423555	0.82[EUR][1000 genomes]
rs2423558	0.82[EUR][1000 genomes]
rs2423559	0.95[EUR][1000 genomes]
rs2423567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2423568	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2423570	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2423576	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653747	0.96[EUR][1000 genomes];0.95[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	esv1851689	chr20:11515516-11758411	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11524400-11527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:11524800-11530000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:11525200-11527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:11525200-11527400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr20:11525200-11530000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:11525200-11530200	Weak transcription	A549	lung
7	chr20:11525200-11530400	Weak transcription	Fetal Brain Female	brain
8	chr20:11525200-11531800	Weak transcription	Fetal Brain Male	brain
9	chr20:11525800-11526800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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