Variant report

Variant	rs4576413
Chromosome Location	chr8:69494909-69494910
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11984913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11987961	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11988777	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11992043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992254	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11997770	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1347382	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs1369232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1434920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1434940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934696	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16934715	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16934717	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836519	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2117492	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289831	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289832	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2380473	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2380475	1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2380476	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2380477	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2380478	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs2890431	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2890432	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3816315	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4455810	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4559226	1.00[CHB][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4559227	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4995316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55686711	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55880104	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56042829	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56093828	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56765555	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57010866	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59050152	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59121536	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59212785	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60521673	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60643160	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60940064	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983285	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984964	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6989036	0.88[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989387	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989643	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7000982	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7003926	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004410	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7009978	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7010609	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs73266585	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73268455	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73268457	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73268472	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73268481	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73268487	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73683561	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814002	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822626	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs7826286	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs7826288	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7831426	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs7840734	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7841933	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs892705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692797	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9692812	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9693077	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9693078	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9694215	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890981	chr8:69413110-69534542	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv890983	chr8:69447339-69503062	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4576413	MYBL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69490600-69496400	Weak transcription	HSMMtube	muscle
2	chr8:69490800-69496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69490800-69496200	Weak transcription	NHDF-Ad	bronchial
4	chr8:69491400-69495800	Weak transcription	NHLF	lung
5	chr8:69494400-69498400	Enhancers	HSMM	muscle
6	chr8:69494800-69495000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:69494800-69495400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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