Variant report

Variant	rs7231366
Chromosome Location	chr18:13332691-13332692
allele	C/T
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]
rs10084046	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107340	0.88[CEU][hapmap]
rs1107341	0.91[EUR][1000 genomes]
rs11080642	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11080646	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1225	0.83[JPT][hapmap]
rs12959077	0.95[ASN][1000 genomes]
rs12959091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16940343	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs16940349	0.88[ASW][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17681406	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1840267	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2085048	0.94[ASN][1000 genomes]
rs2085049	0.83[JPT][hapmap]
rs2085050	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2187501	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2187502	0.94[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2276392	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2867874	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2867875	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2867876	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4570934	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4570935	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4602105	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4606791	0.94[ASN][1000 genomes]
rs4797761	0.83[JPT][hapmap]
rs6505798	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs6505802	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6505803	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6505807	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6505808	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7226901	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7227361	0.95[CHB][hapmap]
rs7229983	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7230643	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7231701	0.85[ASN][1000 genomes]
rs7234501	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7236152	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7236934	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7237181	0.94[ASN][1000 genomes]
rs7237577	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7241109	1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs7241410	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7241438	0.88[ASW][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7242024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7242140	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7242207	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7242230	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8087505	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs8094197	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9303783	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs930797	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs930798	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs930799	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs949259	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs981621	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9946524	0.82[CHB][hapmap]
rs9947830	0.91[EUR][1000 genomes]
rs9948620	0.96[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs9952682	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9952836	0.82[MEX][hapmap]
rs9953274	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9954359	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.91[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	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7231366	AFG3L2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13320400-13338200	Weak transcription	Small Intestine	intestine
2	chr18:13321200-13336000	Weak transcription	Left Ventricle	heart
3	chr18:13323400-13335800	Weak transcription	Aorta	Aorta
4	chr18:13328600-13332800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:13331400-13333000	Weak transcription	Psoas Muscle	Psoas
6	chr18:13332000-13337600	Weak transcription	Thymus	Thymus
7	chr18:13332600-13336000	Weak transcription	Fetal Thymus	thymus

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