Variant report

Variant	rs12422760
Chromosome Location	chr12:117625926-117625927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117624519..117626038-chr12:117626822..117628477,2	MCF-7	breast:
2	chr12:117619225..117621566-chr12:117623434..117626120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10161089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10161283	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10850775	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850776	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850777	0.95[ASN][1000 genomes]
rs10850782	0.96[ASN][1000 genomes]
rs10850784	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850785	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850786	0.96[ASN][1000 genomes]
rs10850788	0.85[ASN][1000 genomes]
rs10850789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850790	0.97[ASN][1000 genomes]
rs10850791	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10850792	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850793	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850794	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850795	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850798	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10850799	0.96[ASN][1000 genomes]
rs11068360	0.85[ASN][1000 genomes]
rs11068361	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068363	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068364	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068365	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068366	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068367	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068368	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068369	0.95[ASN][1000 genomes]
rs11068370	0.95[ASN][1000 genomes]
rs11068371	0.95[ASN][1000 genomes]
rs11068372	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068373	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068374	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068377	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068378	0.94[ASN][1000 genomes]
rs11068382	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068384	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068385	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068386	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068387	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068389	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068390	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068392	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068397	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068409	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12296271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12302515	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12304192	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12304378	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12304875	0.95[ASN][1000 genomes]
rs12310778	0.95[ASN][1000 genomes]
rs12310794	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311466	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12317902	0.85[ASN][1000 genomes]
rs12322298	0.95[ASN][1000 genomes]
rs12322527	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12367404	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12368232	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12370592	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372085	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422378	0.95[ASN][1000 genomes]
rs12425763	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12426884	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1344250	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1472522	0.95[ASN][1000 genomes]
rs2036311	0.96[ASN][1000 genomes]
rs2036312	0.99[ASN][1000 genomes]
rs2062518	0.96[ASN][1000 genomes]
rs2062530	0.95[ASN][1000 genomes]
rs2133678	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2221165	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270790	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2270791	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279765	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2840100	0.95[ASN][1000 genomes]
rs3741470	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3741472	0.95[ASN][1000 genomes]
rs3817015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4238053	0.96[ASN][1000 genomes]
rs4767503	0.94[ASN][1000 genomes]
rs4767504	0.95[ASN][1000 genomes]
rs4767506	0.94[ASN][1000 genomes]
rs4767507	0.95[ASN][1000 genomes]
rs4767511	0.96[ASN][1000 genomes]
rs4767518	0.96[ASN][1000 genomes]
rs4992936	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57559958	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58346019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59583452	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60439829	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61572753	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61626101	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67383912	0.82[ASN][1000 genomes]
rs67983226	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300763	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7302633	0.91[ASN][1000 genomes]
rs7306379	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307866	0.85[EUR][1000 genomes]
rs7315039	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73206024	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73206026	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73206027	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73206028	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73206032	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73206033	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73206063	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73393645	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7489177	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7974581	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs868757	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875036	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs884282	0.95[ASN][1000 genomes]
rs884283	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs904656	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12422760	FBXO21	cis	Muscle Skeletal	GTEx
rs12422760	FBXO21	cis	Heart Left Ventricle	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
5	chr12:117613600-117626400	Weak transcription	NHLF	lung
6	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
7	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
8	chr12:117614200-117626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:117615000-117626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:117616400-117626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117616400-117626800	Weak transcription	Psoas Muscle	Psoas
12	chr12:117616400-117627000	Weak transcription	Right Atrium	heart
13	chr12:117616600-117626000	Strong transcription	NH-A	brain
14	chr12:117616800-117626000	Weak transcription	Lung	lung
15	chr12:117619400-117626400	Weak transcription	Fetal Heart	heart
16	chr12:117619800-117626400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:117620000-117626000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:117620400-117626400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:117620400-117626600	Weak transcription	Pancreas	Pancrea
20	chr12:117620400-117626800	Weak transcription	Gastric	stomach
21	chr12:117620800-117626600	Weak transcription	Spleen	Spleen
22	chr12:117621000-117626000	Weak transcription	Esophagus	oesophagus
23	chr12:117621000-117626600	Weak transcription	Stomach Mucosa	stomach
24	chr12:117621400-117626800	Weak transcription	Aorta	Aorta
25	chr12:117621600-117626600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:117622400-117626400	Weak transcription	NHEK	skin
27	chr12:117622400-117626800	Weak transcription	NHDF-Ad	bronchial
28	chr12:117622600-117626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:117622600-117626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:117622600-117626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:117622600-117626600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:117622600-117627000	Weak transcription	Thymus	Thymus
33	chr12:117622800-117626600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:117622800-117626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:117622800-117626600	Weak transcription	Left Ventricle	heart
36	chr12:117622800-117626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:117622800-117627000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:117623000-117626000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:117623000-117626400	Weak transcription	Primary T cells from cord blood	blood
40	chr12:117623200-117626600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:117623200-117627000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:117623400-117626400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:117623400-117626600	Weak transcription	HSMM	muscle
44	chr12:117623400-117626800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:117623400-117626800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:117623400-117626800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:117623400-117626800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:117623600-117626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:117623600-117626600	Weak transcription	HMEC	breast
50	chr12:117623600-117626600	Weak transcription	HUVEC	blood vessel

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