Variant report

Variant	rs1418449
Chromosome Location	chr1:71632687-71632688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1009311	0.96[ASN][1000 genomes]
rs10493481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11209743	0.86[ASN][1000 genomes]
rs11209745	0.84[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs11209747	0.88[ASN][1000 genomes]
rs11209756	0.92[ASN][1000 genomes]
rs11209757	0.87[ASN][1000 genomes]
rs11209761	0.82[ASN][1000 genomes]
rs11209762	0.82[ASN][1000 genomes]
rs11811835	0.82[ASN][1000 genomes]
rs12084460	0.84[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs12118599	0.96[ASN][1000 genomes]
rs12119958	0.92[ASN][1000 genomes]
rs12131265	0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs12139565	1.00[ASN][1000 genomes]
rs12729268	0.96[ASN][1000 genomes]
rs12737582	0.82[ASN][1000 genomes]
rs12744775	0.82[ASN][1000 genomes]
rs12748649	0.88[ASN][1000 genomes]
rs1367767	0.82[ASN][1000 genomes]
rs1395289	0.82[ASN][1000 genomes]
rs1546809	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1573061	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17090825	0.83[CHB][hapmap]
rs1832900	0.98[ASN][1000 genomes]
rs1954285	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066371	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066373	0.92[ASN][1000 genomes]
rs2639329	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2639330	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2639331	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2639335	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2639338	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694954	0.92[ASN][1000 genomes]
rs2790675	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2796187	0.94[ASN][1000 genomes]
rs2796188	0.94[ASN][1000 genomes]
rs2796189	0.94[ASN][1000 genomes]
rs2796190	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2796192	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2796196	0.96[ASN][1000 genomes]
rs2796199	0.84[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs2796201	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796202	0.96[ASN][1000 genomes]
rs2796203	0.87[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2817869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4272572	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[ASN][1000 genomes]
rs4367753	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4397614	0.96[ASN][1000 genomes]
rs4425938	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6680193	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7516464	0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs7519104	0.92[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs7525499	0.83[ASN][1000 genomes]
rs7556111	0.96[ASN][1000 genomes]
rs880098	0.85[ASN][1000 genomes]
rs952337	0.89[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521769	chr1:71578442-71633719	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv870650	chr1:71590877-71642977	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv818211	chr1:71603703-71633719	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv997782	chr1:71628776-71668906	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1418449	PTGER3	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71625400-71637800	Weak transcription	Pancreas	Pancrea
2	chr1:71631600-71632800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:71631600-71633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:71631800-71632800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:71631800-71632800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:71631800-71632800	Enhancers	Fetal Lung	lung
7	chr1:71631800-71633000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:71631800-71633000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:71632200-71632800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:71632200-71633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:71632200-71633600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:71632400-71632800	Enhancers	HUES48 Cell Line	embryonic stem cell

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