Variant report

Variant	rs1317450
Chromosome Location	chr3:54805073-54805074
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3732748	0.82[ASN][1000 genomes]
rs4384925	0.83[ASN][1000 genomes]
rs4563383	0.83[ASN][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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription 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
rs1317450	ESRG	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54794200-54806800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:54794400-54806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:54796200-54806000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:54803200-54806200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:54804400-54806200	Enhancers	NHDF-Ad	bronchial
6	chr3:54804800-54805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:54805000-54805600	Enhancers	Fetal Brain Male	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