Variant report

Variant	rs2453477
Chromosome Location	chr12:49272647-49272648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10783288	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10875884	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17175174	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2228417	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs58829932	1.00[ASN][1000 genomes]
rs7954041	1.00[ASN][1000 genomes]
rs833477	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs833480	1.00[JPT][hapmap]
rs833482	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs833836	1.00[CHD][hapmap]
rs903570	0.91[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:49271400-49278200	Enhancers	Liver	Liver
3	chr12:49271600-49274000	Weak transcription	A549	lung
4	chr12:49272000-49273000	Enhancers	HepG2	liver
5	chr12:49272200-49272800	Enhancers	Fetal Intestine Small	intestine
6	chr12:49272400-49272800	Enhancers	Fetal Intestine Large	intestine

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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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