Variant report

Variant	rs514224
Chromosome Location	chr9:85336402-85336403
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs472867	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs477678	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs485522	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs487454	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4877702	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4877703	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4877704	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs502630	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs503589	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs504407	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs509053	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509091	0.86[EUR][1000 genomes]
rs514471	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs516033	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518662	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531845	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs533106	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs536317	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs540014	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs555869	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs564058	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs574896	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs574979	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581711	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs581729	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6559679	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7043569	0.86[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	nsv428539	chr9:85240027-85402367	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs514224	PSAT1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85331800-85345000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:85335600-85337600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:85336000-85337000	Enhancers	NH-A	brain
4	chr9:85336000-85337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:85336000-85337200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:85336000-85344800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:85336200-85337200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:85336200-85337400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:85336400-85336800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:85336400-85344600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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