Variant report

Variant	rs10850799
Chromosome Location	chr12:117631861-117631862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:117631749-117632109	K562	blood:	n/a	n/a
2	KAP1	chr12:117631759-117632086	K562	blood:	n/a	n/a

Variant related genes	Relation type
FBXO21	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10161089	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs10161283	0.87[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs10774905	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10850775	0.86[ASN][1000 genomes]
rs10850776	0.86[ASN][1000 genomes]
rs10850777	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850782	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850784	0.84[ASN][1000 genomes]
rs10850785	0.93[ASN][1000 genomes]
rs10850786	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850788	0.84[ASN][1000 genomes]
rs10850789	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.95[ASN][1000 genomes]
rs10850790	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850791	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs10850792	0.94[ASN][1000 genomes]
rs10850793	0.86[ASN][1000 genomes]
rs10850794	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs10850795	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs11068360	0.85[ASN][1000 genomes]
rs11068361	0.92[ASN][1000 genomes]
rs11068363	0.86[ASN][1000 genomes]
rs11068364	0.93[ASN][1000 genomes]
rs11068365	0.86[ASN][1000 genomes]
rs11068366	0.86[ASN][1000 genomes]
rs11068367	0.86[ASN][1000 genomes]
rs11068368	0.86[ASN][1000 genomes]
rs11068369	0.94[ASN][1000 genomes]
rs11068370	0.94[ASN][1000 genomes]
rs11068371	0.94[ASN][1000 genomes]
rs11068372	0.87[ASN][1000 genomes]
rs11068373	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs11068377	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068378	0.92[ASN][1000 genomes]
rs11068382	0.87[ASN][1000 genomes]
rs11068384	0.87[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11068385	0.94[ASN][1000 genomes]
rs11068386	0.94[ASN][1000 genomes]
rs11068387	0.87[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11068389	0.95[ASN][1000 genomes]
rs11068390	0.92[ASN][1000 genomes]
rs11068391	0.96[ASN][1000 genomes]
rs11068392	0.96[ASN][1000 genomes]
rs11068397	0.85[ASN][1000 genomes]
rs11068409	0.90[ASN][1000 genomes]
rs12296271	0.95[ASN][1000 genomes]
rs12302515	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs12304192	0.95[ASN][1000 genomes]
rs12304378	0.89[ASN][1000 genomes]
rs12304875	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310778	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310794	0.94[ASN][1000 genomes]
rs12311466	0.88[ASN][1000 genomes]
rs12317902	0.84[ASN][1000 genomes]
rs12322298	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12322527	0.88[ASN][1000 genomes]
rs12367404	0.94[ASN][1000 genomes]
rs12368232	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs12370592	0.96[ASN][1000 genomes]
rs12372085	0.96[ASN][1000 genomes]
rs12422378	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12422760	0.96[ASN][1000 genomes]
rs12425763	0.82[ASN][1000 genomes]
rs12426884	0.88[ASN][1000 genomes]
rs1344250	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs1472522	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2036311	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2036312	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062518	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062530	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2088699	0.90[EUR][1000 genomes]
rs2221165	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2270790	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs2270791	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs2279765	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs2279766	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2840100	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741470	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs3741472	0.94[ASN][1000 genomes]
rs3817015	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs4238053	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4492907	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4766831	0.89[EUR][1000 genomes]
rs4767502	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4767503	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767504	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767505	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs4767506	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767507	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767511	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767512	0.83[EUR][1000 genomes]
rs4767514	0.89[EUR][1000 genomes]
rs4767515	0.85[EUR][1000 genomes]
rs4767518	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767519	0.91[EUR][1000 genomes]
rs4992936	0.91[ASN][1000 genomes]
rs57559958	0.93[ASN][1000 genomes]
rs58346019	0.94[ASN][1000 genomes]
rs59583452	0.95[ASN][1000 genomes]
rs60439829	0.94[ASN][1000 genomes]
rs61572753	0.95[ASN][1000 genomes]
rs61626101	0.95[ASN][1000 genomes]
rs6490117	0.84[CEU][hapmap]
rs67383912	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67983226	0.96[ASN][1000 genomes]
rs7297713	0.84[EUR][1000 genomes]
rs7298778	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7300763	0.87[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs7302633	0.90[ASN][1000 genomes]
rs7306379	0.91[ASN][1000 genomes]
rs7313745	0.89[EUR][1000 genomes]
rs7315039	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs73206024	0.81[ASN][1000 genomes]
rs73206026	0.83[ASN][1000 genomes]
rs73206027	0.83[ASN][1000 genomes]
rs73206028	0.83[ASN][1000 genomes]
rs73206032	0.86[ASN][1000 genomes]
rs73206033	0.93[ASN][1000 genomes]
rs73206063	0.83[ASN][1000 genomes]
rs73393645	0.88[ASN][1000 genomes]
rs7489177	0.86[ASN][1000 genomes]
rs7957758	0.89[EUR][1000 genomes]
rs7959489	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs7974581	0.86[ASN][1000 genomes]
rs868757	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs875036	0.86[ASN][1000 genomes]
rs884282	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs884283	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs904656	0.95[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10850799	FBXO21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117628400-117635200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:117628800-117633200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117629000-117641000	Weak transcription	Spleen	Spleen
4	chr12:117630400-117633200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:117630600-117633000	Weak transcription	Hela-S3	cervix

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