Variant report

Variant	rs2665530
Chromosome Location	chr3:68544839-68544840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1039971	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1039972	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1039974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs10510970	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1158307	1.00[JPT][hapmap]
rs1158308	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13060400	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs13061250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs13065724	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13068116	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13080569	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13080937	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13082033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13095473	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13096988	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13097849	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1355522	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355525	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355528	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1398066	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1398070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1511889	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1511890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1511893	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511894	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511895	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511896	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1511899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1511900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1511901	0.80[EUR][1000 genomes]
rs1511902	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511903	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511908	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1533155	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1533156	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1606243	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17047758	0.95[CEU][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17047811	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs17183422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap]
rs17242840	0.95[CEU][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17243078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17243134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1849228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849229	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849230	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849231	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849232	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849234	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1849235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1849236	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858377	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877348	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1912851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1912852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1912853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1912854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1912855	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs2137181	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665531	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665532	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665533	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665535	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665538	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2665540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2665541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2665551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2668156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2668158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2668159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2668161	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668163	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668165	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668166	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668167	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668168	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668169	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2872367	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs35996140	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4260447	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4855339	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs58726756	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6419764	1.00[CEU][hapmap]
rs6549128	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs6549129	1.00[CEU][hapmap]
rs6549130	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs6774423	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6774723	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7609799	0.95[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs7612212	1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7619368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7653709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs9310104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs9310105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs9647394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs9810667	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9819205	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs983191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9836279	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9856419	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832396	chr3:68478762-68641509	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv876928	chr3:68505398-68551172	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv876929	chr3:68508137-68565824	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2665530	EIF4E3	cis	cerebellum	SCAN
rs2665530	SUCLG2	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68544600-68545800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:68544800-68545800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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