Variant report

Variant	rs2190870
Chromosome Location	chr14:72484808-72484809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11158929	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2052014	0.86[EUR][1000 genomes]
rs2190868	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2877776	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4899414	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs757598	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs758235	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8003097	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8017353	0.95[AMR][1000 genomes];0.96[EUR][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	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
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 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	chr14:72481000-72489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72482400-72489400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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