Variant report

Variant	rs57485266
Chromosome Location	chr5:74171813-74171814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs60726208	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864336	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883209	0.89[AMR][1000 genomes];1.00[ASN][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	nsv518286	chr5:74169045-74243120	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2534817	chr5:74171812-74171820	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2029553	chr5:74171812-74171821	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs57485266	TINP1	Cis_1M	lymphoblastoid	RTeQTL
rs57485266	NSA2	cis	Nerve Tibial	GTEx
rs57485266	NSA2	cis	Muscle Skeletal	GTEx
rs57485266	NSA2	cis	lung	GTEx
rs57485266	NSA2	cis	Thyroid	GTEx
rs57485266	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs57485266	NSA2	cis	Artery Tibial	GTEx
rs57485266	TINP1	cis	multi-tissue	Pritchard
rs57485266	NSA2	cis	Esophagus Muscularis	GTEx
rs57485266	NSA2	cis	Adipose Subcutaneous	GTEx
rs57485266	NSA2	cis	Whole Blood	GTEx
rs57485266	NSA2	cis	Artery Aorta	GTEx
rs57485266	NSA2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74164800-74172000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74165400-74172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74169400-74173000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:74171800-74172600	Flanking Active TSS	HepG2	liver
5	chr5:74171800-74174800	Enhancers	Liver	Liver

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