Variant report

Variant	rs2358593
Chromosome Location	chr12:4177213-4177214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10774193	0.80[EUR][1000 genomes]
rs10848981	0.82[EUR][1000 genomes]
rs10848982	0.82[EUR][1000 genomes]
rs11063002	0.83[EUR][1000 genomes]
rs11063003	0.83[EUR][1000 genomes]
rs2003578	0.82[EUR][1000 genomes]
rs2003579	0.82[EUR][1000 genomes]
rs2098332	0.92[EUR][1000 genomes]
rs2247533	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540139	0.91[AMR][1000 genomes]
rs2724204	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs741244	0.83[EUR][1000 genomes]
rs741245	0.83[EUR][1000 genomes]
rs759312	0.83[EUR][1000 genomes]
rs7969060	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4176800-4179400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:4177000-4177800	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:4177000-4178400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:4177200-4178400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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