Variant report

Variant	rs60439829
Chromosome Location	chr12:117624811-117624812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117616960..117620689-chr12:117621446..117624982,5	K562	blood:
2	chr12:117624519..117626038-chr12:117626822..117628477,2	MCF-7	breast:
3	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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10161283	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850775	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850776	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850777	0.93[ASN][1000 genomes]
rs10850782	0.94[ASN][1000 genomes]
rs10850784	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850785	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850786	0.94[ASN][1000 genomes]
rs10850788	0.83[ASN][1000 genomes]
rs10850789	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850790	0.95[ASN][1000 genomes]
rs10850791	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850793	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850795	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850798	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10850799	0.94[ASN][1000 genomes]
rs11068360	0.83[ASN][1000 genomes]
rs11068361	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068363	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068364	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068365	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068366	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068367	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068368	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068369	0.93[ASN][1000 genomes]
rs11068370	0.93[ASN][1000 genomes]
rs11068371	0.93[ASN][1000 genomes]
rs11068372	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068373	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068374	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11068377	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068378	0.92[ASN][1000 genomes]
rs11068382	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068384	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068385	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068386	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068387	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068389	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068390	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068397	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068409	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12296271	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12302515	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12304192	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12304378	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12304875	0.93[ASN][1000 genomes]
rs12310778	0.93[ASN][1000 genomes]
rs12310794	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311466	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12317902	0.83[ASN][1000 genomes]
rs12322298	0.93[ASN][1000 genomes]
rs12322527	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12367404	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12368232	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12370592	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12372085	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12422378	0.93[ASN][1000 genomes]
rs12422760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12425763	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12426884	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1344250	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1472522	0.93[ASN][1000 genomes]
rs2036311	0.94[ASN][1000 genomes]
rs2036312	0.96[ASN][1000 genomes]
rs2062518	0.94[ASN][1000 genomes]
rs2062530	0.93[ASN][1000 genomes]
rs2133678	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2221165	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270790	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270791	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279765	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2840100	0.93[ASN][1000 genomes]
rs3741470	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3741472	0.93[ASN][1000 genomes]
rs3817015	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238053	0.94[ASN][1000 genomes]
rs4767503	0.92[ASN][1000 genomes]
rs4767504	0.93[ASN][1000 genomes]
rs4767506	0.92[ASN][1000 genomes]
rs4767507	0.93[ASN][1000 genomes]
rs4767511	0.94[ASN][1000 genomes]
rs4767518	0.94[ASN][1000 genomes]
rs4992936	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57559958	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58346019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59583452	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61572753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61626101	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67383912	0.83[ASN][1000 genomes]
rs67983226	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300763	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7302633	0.89[ASN][1000 genomes]
rs7306379	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307866	0.83[EUR][1000 genomes]
rs7315039	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73206024	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73206026	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206027	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206028	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73206032	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73206033	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73206063	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73393645	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7489177	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7974581	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs868757	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875036	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs884282	0.93[ASN][1000 genomes]
rs884283	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs904656	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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
rs60439829	FBXO21	cis	Heart Left Ventricle	GTEx
rs60439829	FBXO21	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:117590600-117625400	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:117590600-117625600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:117590600-117625600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:117590600-117625800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:117590800-117625200	Strong transcription	Brain Anterior Caudate	brain
14	chr12:117593800-117625000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:117593800-117625600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:117593800-117625600	Strong transcription	Placenta	Placenta
17	chr12:117593800-117625800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:117594000-117625800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
20	chr12:117613600-117626400	Weak transcription	NHLF	lung
21	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
22	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
23	chr12:117614200-117626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:117615000-117626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:117616400-117626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:117616400-117626800	Weak transcription	Psoas Muscle	Psoas
27	chr12:117616400-117627000	Weak transcription	Right Atrium	heart
28	chr12:117616600-117626000	Strong transcription	NH-A	brain
29	chr12:117616800-117626000	Weak transcription	Lung	lung
30	chr12:117617600-117625400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:117619400-117626400	Weak transcription	Fetal Heart	heart
32	chr12:117619800-117626400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:117620000-117626000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:117620200-117625000	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:117620200-117625400	Strong transcription	A549	lung
36	chr12:117620200-117625600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:117620400-117625000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:117620400-117625800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:117620400-117626400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:117620400-117626600	Weak transcription	Pancreas	Pancrea
41	chr12:117620400-117626800	Weak transcription	Gastric	stomach
42	chr12:117620600-117625800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:117620800-117625200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:117620800-117626600	Weak transcription	Spleen	Spleen
45	chr12:117621000-117626000	Weak transcription	Esophagus	oesophagus
46	chr12:117621000-117626600	Weak transcription	Stomach Mucosa	stomach
47	chr12:117621400-117625000	Strong transcription	Hela-S3	cervix
48	chr12:117621400-117626800	Weak transcription	Aorta	Aorta
49	chr12:117621600-117625400	Strong transcription	Dnd41	blood
50	chr12:117621600-117626600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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