Variant report

Variant	rs10850784
Chromosome Location	chr12:117605717-117605718
allele	A/C
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	USF1	chr12:117605638-117606010	ECC-1	luminal epithelium:	n/a	chr12:117605806-117605817
2	USF1	chr12:117605684-117605926	H1-hESC	embryonic stem cell:	n/a	chr12:117605806-117605817
3	USF1	chr12:117605688-117605956	H1-hESC	embryonic stem cell:	n/a	chr12:117605806-117605817
4	USF1	chr12:117605663-117605905	SK-N-SH_RA	brain:	n/a	chr12:117605806-117605817
5	POLR2A	chr12:117605684-117605748	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117604927..117606526-chr12:117627464..117630069,2	K562	blood:

Variant related genes	Relation type
FBXO21	TF binding region
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10161089	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10161283	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850775	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850776	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850777	0.86[ASN][1000 genomes]
rs10850782	0.87[ASN][1000 genomes]
rs10850785	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850786	0.87[ASN][1000 genomes]
rs10850788	0.94[ASN][1000 genomes]
rs10850789	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850790	0.86[ASN][1000 genomes]
rs10850791	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850792	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850793	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10850794	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850795	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850798	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10850799	0.84[ASN][1000 genomes]
rs11068360	0.91[ASN][1000 genomes]
rs11068361	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068363	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068364	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068365	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068366	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068367	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068368	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068369	0.86[ASN][1000 genomes]
rs11068370	0.86[ASN][1000 genomes]
rs11068371	0.86[ASN][1000 genomes]
rs11068372	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068373	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068374	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068377	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068378	0.87[ASN][1000 genomes]
rs11068382	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068384	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068385	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068386	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068387	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068389	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068390	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068391	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068392	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068397	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068409	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12296271	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12302515	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12304192	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12304378	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12304875	0.86[ASN][1000 genomes]
rs12310778	0.86[ASN][1000 genomes]
rs12310794	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12311466	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12322298	0.86[ASN][1000 genomes]
rs12322527	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12367404	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12368232	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12370592	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12372085	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12422378	0.86[ASN][1000 genomes]
rs12422760	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12425763	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12426884	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1344250	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1472522	0.86[ASN][1000 genomes]
rs2036311	0.87[ASN][1000 genomes]
rs2036312	0.86[ASN][1000 genomes]
rs2062518	0.87[ASN][1000 genomes]
rs2062530	0.86[ASN][1000 genomes]
rs2133678	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2221165	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2270790	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270791	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279765	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2840100	0.86[ASN][1000 genomes]
rs3741470	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3741472	0.84[ASN][1000 genomes]
rs3817015	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4238053	0.87[ASN][1000 genomes]
rs4767503	0.85[ASN][1000 genomes]
rs4767504	0.86[ASN][1000 genomes]
rs4767506	0.85[ASN][1000 genomes]
rs4767507	0.86[ASN][1000 genomes]
rs4767511	0.87[ASN][1000 genomes]
rs4767518	0.84[ASN][1000 genomes]
rs4992936	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57559958	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58346019	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59583452	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60439829	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61572753	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61626101	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67383912	0.86[ASN][1000 genomes]
rs67983226	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300763	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302633	0.81[ASN][1000 genomes]
rs7306379	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7307866	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7315039	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73206024	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73206026	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73206027	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73206028	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73206032	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73206033	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206063	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73393645	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7489177	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7974581	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868757	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs875036	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884282	0.86[ASN][1000 genomes]
rs884283	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs904656	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	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	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10850784	FBXO21	cis	Muscle Skeletal	GTEx
rs10850784	FBXO21	cis	Heart Left Ventricle	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
2	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
3	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
4	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:117581200-117618400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:117582000-117613200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:117582200-117606200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:117582400-117624400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:117582600-117608400	Strong transcription	Liver	Liver
20	chr12:117585600-117619000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:117585600-117619800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:117588800-117618800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:117588800-117619000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:117589400-117623600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:117589600-117614600	Strong transcription	Lung	lung
27	chr12:117589600-117619400	Strong transcription	Brain Germinal Matrix	brain
28	chr12:117589800-117618800	Strong transcription	Fetal Brain Female	brain
29	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:117590200-117618800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:117590600-117606200	Strong transcription	Colonic Mucosa	Colon
33	chr12:117590600-117616600	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:117590600-117618200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:117590600-117618400	Strong transcription	Adipose Nuclei	Adipose
36	chr12:117590600-117619000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:117590600-117619400	Strong transcription	Fetal Lung	lung
38	chr12:117590600-117625400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:117590600-117625600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:117590600-117625600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:117590600-117625800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:117590800-117606000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:117590800-117606200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:117590800-117619600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:117590800-117623400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:117590800-117625200	Strong transcription	Brain Anterior Caudate	brain
47	chr12:117591000-117606000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:117591000-117620200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:117591000-117624600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:117591200-117605800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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