Variant report

Variant	rs11068230
Chromosome Location	chr12:117349014-117349015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:
2	chr12:117344357..117346215-chr12:117348073..117350254,2	K562	blood:
3	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:
4	chr12:117314859..117317028-chr12:117347500..117350151,4	MCF-7	breast:
5	chr12:117348884..117350434-chr12:117351419..117353815,2	K562	blood:
6	chr12:117348398..117349087-chr17:56736365..56736997,2	MCF-7	breast:
7	chr12:117343212..117346799-chr12:117346816..117349796,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240100	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35833140	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4324001	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6490097	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7297934	0.85[EUR][1000 genomes]
rs7312388	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7484620	0.80[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11068230	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117348000-117349200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:117348000-117349600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117348200-117349200	Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:117348200-117349200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:117348200-117349200	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:117348200-117349200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr12:117348200-117349200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr12:117348200-117349200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:117348200-117349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:117348200-117349200	Active TSS	Adipose Nuclei	Adipose
11	chr12:117348200-117349200	Active TSS	Duodenum Mucosa	Duodenum
12	chr12:117348200-117349200	Active TSS	GM12878-XiMat	blood
13	chr12:117348200-117349400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:117348200-117349400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:117348200-117349400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:117348200-117349400	Active TSS	Primary T cells from cord blood	blood
17	chr12:117348200-117349400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:117348200-117349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:117348200-117349400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:117348200-117349400	Active TSS	Fetal Brain Female	brain
21	chr12:117348200-117349400	Active TSS	Fetal Muscle Leg	muscle
22	chr12:117348200-117349400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:117348200-117349400	Active TSS	HUVEC	blood vessel
24	chr12:117348200-117349400	Active TSS	NHEK	skin
25	chr12:117348200-117349400	Active TSS	Osteobl	bone
26	chr12:117348200-117349600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr12:117348200-117349600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:117348200-117349600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:117348200-117349600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:117348200-117349600	Active TSS	Brain Cingulate Gyrus	brain
31	chr12:117348200-117349600	Active TSS	Fetal Lung	lung
32	chr12:117348200-117349600	Active TSS	Fetal Stomach	stomach
33	chr12:117348200-117349800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:117348200-117349800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr12:117348200-117349800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:117348200-117349800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:117348200-117349800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:117348200-117349800	Active TSS	Colon Smooth Muscle	Colon
39	chr12:117348200-117349800	Active TSS	NHDF-Ad	bronchial
40	chr12:117348200-117350000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:117348200-117350000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr12:117348200-117350000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr12:117348200-117350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:117348200-117350000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr12:117348200-117350000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr12:117348200-117350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:117348200-117350000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:117348200-117350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:117348200-117350000	Active TSS	Stomach Smooth Muscle	stomach
50	chr12:117348200-117350000	Active TSS	K562	blood

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