Variant report

Variant	rs1979714
Chromosome Location	chr12:44854182-44854183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10506249	1.00[EUR][1000 genomes]
rs11182502	1.00[EUR][1000 genomes]
rs11182504	0.95[EUR][1000 genomes]
rs11611112	1.00[EUR][1000 genomes]
rs11612522	1.00[EUR][1000 genomes]
rs12297783	1.00[EUR][1000 genomes]
rs17094680	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17641088	0.95[EUR][1000 genomes]
rs34439375	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55670411	1.00[EUR][1000 genomes]
rs58635872	0.95[EUR][1000 genomes]
rs7133536	1.00[EUR][1000 genomes]
rs73278358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9971755	0.95[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:44851800-44857400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:44852200-44857200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:44852200-44859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:44853400-44854200	Enhancers	Fetal Brain Female	brain

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