Variant report

Variant	rs1517827
Chromosome Location	chr2:50377588-50377589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1037428	0.93[ASN][1000 genomes]
rs10490233	1.00[CEU][hapmap]
rs10490240	0.81[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10490243	0.90[CHB][hapmap]
rs10865243	0.88[ASN][1000 genomes]
rs11125288	0.94[ASN][1000 genomes]
rs11125289	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11125290	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11125291	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11125292	0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11125294	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11125295	0.86[GIH][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap]
rs11125296	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11883844	0.94[ASN][1000 genomes]
rs11887484	0.88[ASN][1000 genomes]
rs11898302	0.88[ASN][1000 genomes]
rs11900502	0.81[AMR][1000 genomes]
rs11901625	0.87[ASN][1000 genomes]
rs12151722	0.94[ASN][1000 genomes]
rs12151727	0.94[ASN][1000 genomes]
rs12465888	0.93[ASN][1000 genomes]
rs12466807	0.80[AMR][1000 genomes]
rs12468151	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12468252	0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12468282	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12468342	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12468396	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12468477	0.87[ASW][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap]
rs12469244	0.85[ASN][1000 genomes]
rs12470002	0.90[CHB][hapmap]
rs12470518	0.88[CEU][hapmap]
rs12472712	0.89[CHB][hapmap]
rs12472743	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs12473119	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs12475100	0.89[YRI][hapmap]
rs12477934	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs12478732	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.93[ASN][1000 genomes]
rs12479057	0.93[ASN][1000 genomes]
rs12613266	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12620250	0.82[ASN][1000 genomes]
rs12622844	0.87[ASW][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12622858	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.94[ASN][1000 genomes]
rs12986904	0.90[CHB][hapmap]
rs1377238	0.86[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs1421573	0.82[YRI][hapmap]
rs1452769	0.86[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes]
rs1452770	0.83[AMR][1000 genomes]
rs1452771	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1452778	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs1452779	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1452780	0.82[ASN][1000 genomes]
rs1452781	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs1452783	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs1563019	0.91[MEX][hapmap]
rs1563020	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs1563024	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs1563026	0.90[CHB][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs1563027	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs1584763	0.90[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17039801	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs17039807	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs17039848	0.87[ASN][1000 genomes]
rs17039863	0.81[ASN][1000 genomes]
rs17039900	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17039905	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17039932	0.87[ASW][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17039935	0.95[ASN][1000 genomes]
rs17039940	0.87[ASW][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.82[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17039947	0.83[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17039976	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs17039979	0.84[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs17039985	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17040013	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs17040034	0.89[YRI][hapmap]
rs17040064	0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17040090	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17040117	0.86[MEX][hapmap]
rs17040138	0.80[AMR][1000 genomes]
rs17040141	0.80[AMR][1000 genomes]
rs17040147	0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs17040160	0.86[MEX][hapmap]
rs17040169	0.80[AMR][1000 genomes]
rs17040207	1.00[CEU][hapmap]
rs1840074	0.87[ASN][1000 genomes]
rs1880075	0.88[ASN][1000 genomes]
rs1961358	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs2011317	0.81[ASN][1000 genomes]
rs2045003	0.84[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs2123388	0.90[CHB][hapmap]
rs2176872	0.81[AMR][1000 genomes]
rs4641977	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs4971554	0.81[ASN][1000 genomes]
rs4971556	0.88[ASN][1000 genomes]
rs4971648	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[ASN][1000 genomes]
rs4971649	0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4971650	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4971652	0.89[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4971653	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57366806	0.83[ASN][1000 genomes]
rs60500567	0.89[AMR][1000 genomes]
rs61035060	0.93[ASN][1000 genomes]
rs6712119	0.82[MEX][hapmap]
rs6716404	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[ASN][1000 genomes]
rs6731360	0.88[ASN][1000 genomes]
rs72874683	0.81[ASN][1000 genomes]
rs72874698	0.81[ASN][1000 genomes]
rs72878157	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72878159	0.94[ASN][1000 genomes]
rs72881242	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7590544	0.89[CHB][hapmap];0.88[ASN][1000 genomes]
rs7607863	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs896683	0.90[CHB][hapmap];0.90[CHD][hapmap];0.81[LWK][hapmap];0.87[ASN][1000 genomes]
rs896684	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs896685	0.88[ASN][1000 genomes]
rs9917277	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1517827	ATP6V1E2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50376200-50377600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:50376400-50377600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:50376400-50379800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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