Variant report

Variant	rs12299138
Chromosome Location	chr12:45469402-45469403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11182828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304662	0.89[AFR][1000 genomes]
rs12314515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1558987	0.89[AFR][1000 genomes];1.00[AMR][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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12299138	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45466600-45469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:45469000-45470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:45469400-45469600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:45469400-45469600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:45469400-45470200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:45469400-45470400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:45469400-45471000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:45469400-45471000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:45469400-45472600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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