Variant report

Variant	rs548310
Chromosome Location	chr1:84854440-84854441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr1:84854435-84854883	GM12878	blood:	n/a	n/a
2	ATF2	chr1:84854425-84854969	GM12878	blood:	n/a	n/a
3	SPI1	chr1:84854183-84855190	GM12878	blood:	n/a	chr1:84854901-84854914
4	MEF2A	chr1:84854402-84854924	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
UOX	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12039378	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042948	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044734	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568281	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131659	0.82[ASW][hapmap]
rs2275571	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs315512	0.90[ASN][1000 genomes]
rs477253	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507863	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508767	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576888	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579351	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580171	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585935	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585958	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636484	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649845	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666062	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696653	0.91[EUR][1000 genomes]
rs7554646	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs548310	LPAR3	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84845600-84857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:84845800-84854800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:84846400-84856000	Weak transcription	NHLF	lung
4	chr1:84852000-84857200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:84853200-84855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:84853400-84854800	Enhancers	GM12878-XiMat	blood
7	chr1:84853400-84855800	Weak transcription	HMEC	breast
8	chr1:84853600-84855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:84853600-84855800	Weak transcription	NHEK	skin
10	chr1:84853600-84857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:84853600-84858800	Weak transcription	HUVEC	blood vessel
12	chr1:84853800-84855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:84854200-84856200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:84854400-84854600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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