Variant report

Variant	rs485522
Chromosome Location	chr9:85345006-85345007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11139718	0.89[AFR][1000 genomes]
rs11139719	0.91[AFR][1000 genomes]
rs11139720	0.91[AFR][1000 genomes]
rs472867	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs477678	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs487454	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4877702	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4877703	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4877704	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs502630	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs503589	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs504407	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509053	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509091	0.82[EUR][1000 genomes]
rs514224	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514471	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs516033	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs518662	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531845	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533106	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs534724	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs536317	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540014	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs555869	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs564058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs574896	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs574979	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs581711	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs581729	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609444	0.94[AFR][1000 genomes]
rs6559679	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6559681	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs7043569	0.89[ASN][1000 genomes]
rs7047996	0.91[AFR][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
rs485522	PSAT1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85342000-85347400	Weak transcription	Dnd41	blood
2	chr9:85343800-85346200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:85344600-85346000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr9:85344800-85345200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:85344800-85345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:85344800-85346200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:85344800-85346200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:85344800-85346400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:85344800-85346600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:85345000-85345600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr9:85345000-85345800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:85345000-85346000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:85345000-85349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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