Variant report

Variant	rs4766814
Chromosome Location	chr12:117374323-117374324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
2	chr12:117373255..117375339-chr12:117377275..117379604,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10507277	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10507278	0.86[EUR][1000 genomes]
rs10732611	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10735099	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10735102	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735103	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744885	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10744886	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774892	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774893	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774896	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850731	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10850733	0.84[EUR][1000 genomes]
rs10850737	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10850743	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068245	0.81[ASN][1000 genomes]
rs11068264	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11068277	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11068296	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11609970	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12821492	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12823620	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2242469	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2393110	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2393111	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35833140	0.82[ASN][1000 genomes]
rs3893370	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4074147	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4076700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077519	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4130296	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4238051	0.84[EUR][1000 genomes]
rs4299000	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4324001	0.84[ASN][1000 genomes]
rs4522274	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4542506	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562925	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4562926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562927	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4766812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766815	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766818	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766820	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766821	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766822	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4767473	0.84[EUR][1000 genomes]
rs4767474	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767476	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767480	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767482	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767483	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767484	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767485	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767487	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767488	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767489	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767491	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767493	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6490097	0.84[ASN][1000 genomes]
rs6490102	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7131746	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137006	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7137752	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297155	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7297848	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7297934	0.82[ASN][1000 genomes]
rs7298447	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7303882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7307907	0.81[EUR][1000 genomes]
rs7308498	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308734	0.87[EUR][1000 genomes]
rs7311972	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312388	0.83[ASN][1000 genomes]
rs7316144	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73403241	0.88[EUR][1000 genomes]
rs7484620	0.90[ASN][1000 genomes]
rs7952766	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954824	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7958030	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959666	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7962339	0.84[EUR][1000 genomes]
rs7973240	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976815	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7977598	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4766814	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:117363400-117375200	Weak transcription	HMEC	breast
5	chr12:117363400-117381000	Weak transcription	NHEK	skin
6	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
8	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
15	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:117366600-117381200	Weak transcription	Liver	Liver
18	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
19	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:117366600-117388400	Weak transcription	K562	blood
21	chr12:117367000-117380000	Weak transcription	Fetal Thymus	thymus
22	chr12:117367200-117379200	Weak transcription	Spleen	Spleen
23	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:117368000-117379800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:117368000-117381200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:117368000-117383200	Weak transcription	Hela-S3	cervix
27	chr12:117368000-117383400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:117368200-117376400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:117368200-117383000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:117368800-117381400	Weak transcription	Adipose Nuclei	Adipose
31	chr12:117369200-117376400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:117369600-117374400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:117369600-117375200	Weak transcription	Fetal Kidney	kidney
34	chr12:117369800-117383200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:117370000-117382000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:117370600-117375000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:117371000-117375200	Strong transcription	HepG2	liver
38	chr12:117371400-117381000	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:117371400-117381200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:117371400-117381200	Weak transcription	Brain Substantia Nigra	brain
41	chr12:117371400-117381600	Weak transcription	Brain Anterior Caudate	brain
42	chr12:117371400-117383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:117371400-117383400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:117371600-117378200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:117371600-117380000	Weak transcription	Brain Angular Gyrus	brain
46	chr12:117371800-117381000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:117372000-117375600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr12:117372000-117377200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:117372200-117374600	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:117372200-117374800	Strong transcription	Osteobl	bone

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