Variant report

Variant	rs2639330
Chromosome Location	chr1:71699013-71699014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1009311	0.96[ASN][1000 genomes]
rs10493481	1.00[JPT][hapmap]
rs11209743	0.80[ASN][1000 genomes]
rs11209745	0.94[JPT][hapmap];0.93[YRI][hapmap]
rs11209747	0.81[ASN][1000 genomes]
rs11209756	1.00[ASN][1000 genomes]
rs11209757	0.93[ASN][1000 genomes]
rs11209761	0.87[ASN][1000 genomes]
rs11209762	0.87[ASN][1000 genomes]
rs11811835	0.87[ASN][1000 genomes]
rs12084460	0.94[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs12118599	0.96[ASN][1000 genomes]
rs12119958	1.00[ASN][1000 genomes]
rs12131265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12139565	0.92[ASN][1000 genomes]
rs12140289	0.83[ASN][1000 genomes]
rs12729268	0.96[ASN][1000 genomes]
rs12737582	0.87[ASN][1000 genomes]
rs12744775	0.87[ASN][1000 genomes]
rs12748649	0.81[ASN][1000 genomes]
rs1367767	0.87[ASN][1000 genomes]
rs1395289	0.87[ASN][1000 genomes]
rs1418449	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1431504	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1546809	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573061	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1832900	0.90[ASN][1000 genomes]
rs1954285	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066371	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066373	1.00[ASN][1000 genomes]
rs2639329	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2639331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2639335	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2639338	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694954	1.00[ASN][1000 genomes]
rs2790675	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796187	0.98[ASN][1000 genomes]
rs2796188	0.98[ASN][1000 genomes]
rs2796189	0.98[ASN][1000 genomes]
rs2796190	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2796192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796196	0.88[ASN][1000 genomes]
rs2796199	0.94[JPT][hapmap];0.87[YRI][hapmap]
rs2796201	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796202	0.96[ASN][1000 genomes]
rs2796203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2817869	1.00[JPT][hapmap]
rs4272572	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4367753	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4397614	0.96[ASN][1000 genomes]
rs4425938	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579709	0.94[YRI][hapmap]
rs6680193	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7411	1.00[JPT][hapmap]
rs7516464	0.94[JPT][hapmap];0.80[YRI][hapmap]
rs7519104	0.94[JPT][hapmap];0.88[YRI][hapmap]
rs7522835	1.00[YRI][hapmap]
rs7525499	0.88[ASN][1000 genomes]
rs7551789	0.93[YRI][hapmap]
rs7556111	0.88[ASN][1000 genomes]
rs9424959	1.00[YRI][hapmap]
rs9425055	0.93[YRI][hapmap]
rs952337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2639330	PTGER3	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71695200-71700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:71698000-71700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:71698000-71700600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:71698200-71699800	Enhancers	Ovary	ovary
5	chr1:71698200-71700400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:71698400-71699200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:71698400-71699400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:71698600-71699200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:71698800-71699600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:71699000-71699400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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