Variant report

Variant	rs2191251
Chromosome Location	chr14:72404758-72404759
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]
rs17093752	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2190873	0.98[EUR][1000 genomes]
rs2238284	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2332687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36318	0.96[ASN][1000 genomes]
rs36332	0.95[EUR][1000 genomes]
rs36340	0.83[EUR][1000 genomes]
rs36341	0.94[EUR][1000 genomes]
rs36344	0.81[EUR][1000 genomes]
rs36345	0.80[EUR][1000 genomes]
rs6574035	1.00[ASN][1000 genomes]
rs7148606	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72403400-72406000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72403800-72407600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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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

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