Variant report

Variant	rs10744885
Chromosome Location	chr12:117352557-117352558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:
2	chr12:117348884..117350434-chr12:117351419..117353815,2	K562	blood:
3	chr12:117172130..117177322-chr12:117351344..117357214,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10507277	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10732611	0.88[ASN][1000 genomes]
rs10735099	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10735102	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10735103	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744886	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774892	0.88[ASN][1000 genomes]
rs10774893	0.87[ASN][1000 genomes]
rs10774896	0.83[ASN][1000 genomes]
rs10850731	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10850737	0.82[AMR][1000 genomes]
rs10850743	0.83[EUR][1000 genomes]
rs11068264	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068277	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068296	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11609970	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12821492	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823620	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2242469	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2393110	0.86[ASN][1000 genomes]
rs2393111	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35833140	0.91[ASN][1000 genomes]
rs3893370	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4074147	0.85[ASN][1000 genomes]
rs4076700	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4077519	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4130296	0.84[ASN][1000 genomes]
rs4299000	0.83[ASN][1000 genomes]
rs4324001	0.93[ASN][1000 genomes]
rs4522274	0.88[ASN][1000 genomes]
rs4542506	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4562925	0.88[ASN][1000 genomes]
rs4562926	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4562927	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766812	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766814	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766815	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766818	0.86[ASN][1000 genomes]
rs4766820	0.86[ASN][1000 genomes]
rs4766821	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4766822	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4767474	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767476	0.87[ASN][1000 genomes]
rs4767478	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767480	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767482	0.85[ASN][1000 genomes]
rs4767483	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767484	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767485	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767487	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767488	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4767489	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767491	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767493	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6490097	0.93[ASN][1000 genomes]
rs6490102	0.86[ASN][1000 genomes]
rs7131746	0.85[ASN][1000 genomes]
rs7137006	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137752	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7297155	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7297848	0.82[AMR][1000 genomes]
rs7297934	0.91[ASN][1000 genomes]
rs7298447	0.86[ASN][1000 genomes]
rs7303882	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7308498	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7308734	0.81[AMR][1000 genomes]
rs7311972	0.85[ASN][1000 genomes]
rs7312388	0.92[ASN][1000 genomes]
rs7316144	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7484620	0.99[ASN][1000 genomes]
rs7952766	0.88[ASN][1000 genomes]
rs7954824	0.88[ASN][1000 genomes]
rs7958030	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7959666	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7973240	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976815	0.88[ASN][1000 genomes]
rs7977598	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10744885	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx
rs10744885	FBXW8	cis	Whole Blood	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349400-117354400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:117349600-117353800	Weak transcription	Gastric	stomach
3	chr12:117349600-117354200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:117349600-117354200	Weak transcription	Esophagus	oesophagus
5	chr12:117349600-117354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:117349800-117353200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:117349800-117353800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:117349800-117353800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:117349800-117353800	Weak transcription	NHDF-Ad	bronchial
13	chr12:117349800-117354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:117349800-117354400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:117349800-117356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:117349800-117362200	Weak transcription	Thymus	Thymus
17	chr12:117349800-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
20	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
21	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:117350000-117353000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:117350000-117353000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:117350000-117353200	Weak transcription	HMEC	breast
28	chr12:117350000-117353600	Weak transcription	Fetal Brain Female	brain
29	chr12:117350000-117353600	Weak transcription	HSMMtube	muscle
30	chr12:117350000-117353800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:117350000-117353800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:117350000-117353800	Weak transcription	A549	lung
33	chr12:117350000-117354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:117350000-117354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:117350000-117354200	Weak transcription	GM12878-XiMat	blood
36	chr12:117350000-117356200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:117350000-117356400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:117350000-117356600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:117350000-117357000	Weak transcription	HUVEC	blood vessel
40	chr12:117350000-117358600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:117350000-117360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:117350000-117363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:117350000-117363800	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
46	chr12:117350200-117352800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:117350200-117352800	Weak transcription	Liver	Liver
48	chr12:117350200-117352800	Weak transcription	Placenta	Placenta
49	chr12:117350200-117353800	Weak transcription	Fetal Heart	heart
50	chr12:117350200-117353800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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