Variant report

Variant	rs326517
Chromosome Location	chr13:29622485-29622486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1006810	0.82[JPT][hapmap]
rs11620188	0.81[JPT][hapmap]
rs12858770	0.84[ASN][1000 genomes]
rs1322383	0.85[ASN][1000 genomes]
rs1322385	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1590277	0.89[JPT][hapmap]
rs167833	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184467	0.89[ASN][1000 genomes]
rs187333	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs191265	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077255	0.92[CEU][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2146139	0.85[ASN][1000 genomes]
rs2146140	0.85[ASN][1000 genomes]
rs2181182	0.89[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2181183	0.85[ASN][1000 genomes]
rs2475512	0.83[ASN][1000 genomes]
rs2475514	0.85[ASN][1000 genomes]
rs2475515	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2475518	0.92[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2475519	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2475520	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2475523	0.85[ASN][1000 genomes]
rs2475524	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2475525	0.85[ASN][1000 genomes]
rs2475546	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2475548	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2475550	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2475551	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2479778	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2479779	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2479781	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2479785	0.85[ASN][1000 genomes]
rs2479786	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2479787	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987344	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs326513	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs326514	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs326515	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs326524	0.89[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs326526	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4262810	0.84[ASN][1000 genomes]
rs4769676	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490346	0.92[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7317087	0.88[CEU][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7326464	0.88[CEU][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7328602	0.92[CEU][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7332330	0.92[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7334030	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7337190	0.96[CEU][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7339409	0.88[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs745423	0.92[CEU][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs754395	0.92[CEU][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7986144	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs913494	0.92[CEU][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9314927	0.86[JPT][hapmap]
rs9506080	0.82[JPT][hapmap]
rs9506089	0.85[ASN][1000 genomes]
rs9508235	0.92[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9508236	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9508239	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9550435	0.81[JPT][hapmap]
rs9550437	0.82[JPT][hapmap]
rs9551598	0.82[JPT][hapmap]
rs9578072	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9579284	0.81[GIH][hapmap];0.90[JPT][hapmap]
rs9579290	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533835	chr13:29141132-29962069	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3406145	chr13:29616606-29917459	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs326517	RNF6	cis	parietal	SCAN
rs326517	SNORD102	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29606200-29623600	Weak transcription	Aorta	Aorta
2	chr13:29612400-29633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:29619200-29623200	Enhancers	Fetal Heart	heart

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