Variant report

Variant	rs4766821
Chromosome Location	chr12:117421922-117421923
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	chr12:117421809..117423733-chr12:117438090..117440215,2	MCF-7	breast:
2	chr12:117421081..117423029-chr12:117430032..117431704,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10507277	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10507278	0.83[CEU][hapmap];0.93[EUR][1000 genomes]
rs10732611	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10735099	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10735102	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10735103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744885	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10744886	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774891	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs10774892	0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774893	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774896	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850731	1.00[CEU][hapmap];0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10850737	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10850741	0.83[EUR][1000 genomes]
rs10850743	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850744	0.86[CEU][hapmap];0.93[CHB][hapmap]
rs11068245	0.81[CHB][hapmap]
rs11068247	0.81[CHB][hapmap]
rs11068258	0.81[JPT][hapmap]
rs11068262	0.81[JPT][hapmap]
rs11068264	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068277	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068280	0.85[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11068282	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs11068286	0.81[ASN][1000 genomes]
rs11068292	1.00[YRI][hapmap]
rs11068296	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11609970	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12299065	0.81[EUR][1000 genomes]
rs12821492	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12823620	0.87[AMR][1000 genomes]
rs17616662	0.81[JPT][hapmap]
rs2242469	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270794	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2393110	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393111	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35833140	0.81[ASN][1000 genomes]
rs3803089	0.81[JPT][hapmap]
rs3893370	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074147	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4076700	0.94[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4077519	0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130296	0.87[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4299000	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4347476	0.81[JPT][hapmap]
rs4522274	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4542506	0.94[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4562925	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4562926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4562927	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4766812	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766814	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766815	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766818	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766820	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766822	0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767476	0.83[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767478	0.94[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767480	0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767482	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767483	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767485	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767487	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767488	1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767490	0.83[EUR][1000 genomes]
rs4767491	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60940473	0.81[EUR][1000 genomes]
rs6490102	0.83[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131746	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133066	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs7136629	0.81[JPT][hapmap]
rs7137006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297155	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297848	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7297934	0.81[ASN][1000 genomes]
rs7298447	0.83[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302025	0.81[EUR][1000 genomes]
rs7303882	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308734	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311972	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312388	0.82[ASN][1000 genomes]
rs7316144	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403241	0.94[EUR][1000 genomes]
rs7484620	0.86[ASN][1000 genomes]
rs7487081	0.92[JPT][hapmap]
rs7952766	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954824	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7957907	0.81[EUR][1000 genomes]
rs7958030	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962339	0.90[EUR][1000 genomes]
rs7973240	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976815	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977598	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804817	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4766821	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:117387800-117463600	Weak transcription	HMEC	breast
4	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
5	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
6	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
7	chr12:117403400-117423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:117404600-117427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:117404600-117442400	Weak transcription	HepG2	liver
10	chr12:117404800-117426400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:117408000-117427600	Weak transcription	Dnd41	blood
13	chr12:117408200-117424800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:117408200-117426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:117408200-117427000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:117408200-117429600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:117408400-117432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
20	chr12:117408600-117422400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:117409000-117427200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:117411000-117424400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117411200-117423200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:117411200-117423200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:117411600-117423000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:117411600-117423400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:117411600-117425600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:117411600-117426800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:117411600-117427200	Weak transcription	Fetal Kidney	kidney
30	chr12:117411600-117427600	Weak transcription	A549	lung
31	chr12:117411600-117434000	Weak transcription	Brain Angular Gyrus	brain
32	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:117411800-117429200	Weak transcription	Hela-S3	cervix
34	chr12:117412000-117423000	Weak transcription	Ovary	ovary
35	chr12:117412000-117423000	Weak transcription	NHEK	skin
36	chr12:117412000-117423200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:117412000-117423200	Weak transcription	Brain Anterior Caudate	brain
38	chr12:117412000-117424800	Weak transcription	Liver	Liver
39	chr12:117412000-117424800	Weak transcription	Left Ventricle	heart
40	chr12:117412000-117426000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:117412000-117426200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:117412000-117426800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:117412000-117427000	Weak transcription	Pancreas	Pancrea
44	chr12:117412000-117427600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:117412000-117427600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:117412000-117432400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:117412200-117423200	Weak transcription	Placenta	Placenta
48	chr12:117412200-117425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:117412200-117432600	Weak transcription	Spleen	Spleen
50	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus

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