Variant report

Variant	rs12080418
Chromosome Location	chr1:192195751-192195752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10921091	1.00[EUR][1000 genomes]
rs12060594	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs13374724	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28498412	0.83[AFR][1000 genomes];1.00[EUR][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	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:192194600-192195800	Enhancers	HUVEC	blood vessel
2	chr1:192194800-192195800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:192195200-192195800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:192195200-192202000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:192195600-192202000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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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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