Variant report

Variant	rs7307866
Chromosome Location	chr12:117637559-117637560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10161089	0.85[EUR][1000 genomes]
rs10161283	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10850775	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10850776	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10850784	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10850785	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10850789	0.85[EUR][1000 genomes]
rs10850791	0.84[EUR][1000 genomes]
rs10850792	0.85[EUR][1000 genomes]
rs10850794	0.85[EUR][1000 genomes]
rs10850795	0.85[EUR][1000 genomes]
rs10850798	0.84[EUR][1000 genomes]
rs11068363	0.80[AMR][1000 genomes]
rs11068365	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068366	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068367	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068368	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068372	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11068373	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068374	0.82[EUR][1000 genomes]
rs11068377	0.83[EUR][1000 genomes]
rs11068382	0.81[EUR][1000 genomes]
rs11068384	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11068385	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11068386	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11068387	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11068389	0.85[EUR][1000 genomes]
rs11068390	0.84[EUR][1000 genomes]
rs11068391	0.84[EUR][1000 genomes]
rs11068392	0.85[EUR][1000 genomes]
rs11068397	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11068409	0.83[EUR][1000 genomes]
rs12296271	0.82[EUR][1000 genomes]
rs12302515	0.82[EUR][1000 genomes]
rs12304192	0.82[EUR][1000 genomes]
rs12310794	0.80[EUR][1000 genomes]
rs12311466	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12322527	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12367404	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368232	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12370592	0.84[EUR][1000 genomes]
rs12372085	0.84[EUR][1000 genomes]
rs12422760	0.85[EUR][1000 genomes]
rs12426884	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1344250	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2088699	0.82[ASN][1000 genomes]
rs2133678	0.85[EUR][1000 genomes]
rs2221165	0.80[EUR][1000 genomes]
rs2270790	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2270791	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2279765	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2279766	0.82[ASN][1000 genomes]
rs3741470	0.80[AMR][1000 genomes]
rs3817015	0.82[EUR][1000 genomes]
rs4492907	0.84[ASN][1000 genomes]
rs4766831	0.82[ASN][1000 genomes]
rs4766834	0.81[ASN][1000 genomes]
rs4767502	0.82[ASN][1000 genomes]
rs4767512	0.81[ASN][1000 genomes]
rs4767514	0.84[ASN][1000 genomes]
rs57559958	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58346019	0.85[EUR][1000 genomes]
rs59583452	0.85[EUR][1000 genomes]
rs60439829	0.83[EUR][1000 genomes]
rs61572753	0.85[EUR][1000 genomes]
rs61626101	0.85[EUR][1000 genomes]
rs6490117	0.82[ASN][1000 genomes]
rs67983226	0.84[EUR][1000 genomes]
rs7297713	0.81[ASN][1000 genomes]
rs7298778	0.82[ASN][1000 genomes]
rs7300763	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7313745	0.82[ASN][1000 genomes]
rs7315039	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73206063	0.82[EUR][1000 genomes]
rs73393645	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7489177	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7957758	0.82[ASN][1000 genomes]
rs7959489	0.82[ASN][1000 genomes]
rs7974581	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs868757	0.82[EUR][1000 genomes]
rs875036	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs904656	0.82[EUR][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3409292	chr12:117613281-117638743	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv560346	chr12:117623651-117642113	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv560347	chr12:117623651-117643067	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv1844687	chr12:117630765-117643067	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv1844732	chr12:117630765-117643067	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv560348	chr12:117630765-117643067	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7307866	FBXO21	cis	Heart Left Ventricle	GTEx
rs7307866	FBXO21	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117629000-117641000	Weak transcription	Spleen	Spleen
2	chr12:117633600-117645000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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