Variant report

Variant	rs11139719
Chromosome Location	chr9:85353646-85353647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10746688	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11139718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11139720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683452	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479375	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs485522	0.91[AFR][1000 genomes]
rs518662	0.82[AMR][1000 genomes]
rs531845	0.91[AFR][1000 genomes]
rs534724	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs556689	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs564058	0.91[AFR][1000 genomes]
rs583597	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs595666	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs599817	0.97[EUR][1000 genomes]
rs609444	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs635714	0.83[EUR][1000 genomes]
rs6559681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7047996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7869543	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
2	nsv1035314	chr9:85348780-85549246	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv540161	chr9:85348780-85549246	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1039930	chr9:85349993-85536746	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1002297	chr9:85351450-85360245	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11139719	PSAT1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85348200-85361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:85349800-85361600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:85350000-85364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:85351000-85356000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:85352200-85361200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:85352200-85364800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:85352400-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:85352400-85355600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:85352400-85361600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:85353000-85355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:85353000-85361600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:85353200-85361600	Strong transcription	HUES6 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