Variant report

Variant	rs10850758
Chromosome Location	chr12:117534707-117534708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:117534651-117534713	HepG2	liver:	n/a	n/a
2	ZNF263	chr12:117534563-117535408	HEK293-T-REx	kidney:	n/a	chr12:117535205-117535214

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117534674-117534724	HMEC	breast:	n/a
2	chr12:117534674-117534724	PFSK-1	brain:	n/a
3	chr12:117534674-117534724	RPTEC	kidney:	n/a
4	chr12:117534674-117534724	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:117534674-117534724	GM12891	blood:	n/a
6	chr12:117534674-117534724	K562	blood:	n/a
7	chr12:117534674-117534724	PANC-1	pancreas:	n/a
8	chr12:117534674-117534724	MCF-7	breast:	n/a
9	chr12:117534674-117534724	BJ	skin:	n/a
10	chr12:117534674-117534724	CMK	blood:	n/a
11	chr12:117534674-117534724	LNCaP	prostate:	n/a
12	chr12:117534674-117534724	ovcar-3	ovarian:	n/a
13	chr12:117534674-117534724	HCF	heart:	n/a
14	chr12:117534674-117534724	NHDF-neo	bronchial:	n/a
15	chr12:117534674-117534724	Hepatocyte	liver:	n/a
16	chr12:117534674-117534724	U87	brain:	n/a
17	chr12:117534674-117534724	HL-60	blood:	n/a
18	chr12:117534674-117534724	GM06990	blood:	n/a
19	chr12:117534674-117534724	SAEC	small airway:	n/a
20	chr12:117534674-117534724	A549	lung:	n/a
21	chr12:117534674-117534724	T-47D	breast:	n/a
22	chr12:117534674-117534724	NH-A	brain:	n/a
23	chr12:117534674-117534724	H1-hESC	embryonic stem cell:	embryo
24	chr12:117534674-117534724	HAEpiC	amniotic membrane:	n/a
25	chr12:117534674-117534724	Jurkat	blood:	n/a
26	chr12:117534674-117534724	ECC-1	luminal epithelium:	n/a
27	chr12:117534674-117534724	AG09319	gingival:	n/a
28	chr12:117534674-117534724	AoSMC	blood vessel:	n/a
29	chr12:117534674-117534724	HNPCEpiC	eye:	n/a
30	chr12:117534674-117534724	GM19239	blood:	n/a
31	chr12:117534674-117534724	SK-N-SH	brain:	n/a
32	chr12:117534674-117534724	NB4	blood:	n/a
33	chr12:117534674-117534724	HRCEpiC	kidney:	n/a
34	chr12:117534674-117534724	NT2-D1	testis:	n/a
35	chr12:117534674-117534724	GM12892	blood:	n/a
36	chr12:117534674-117534724	AG04449	skin:	fetal
37	chr12:117534674-117534724	Caco-2	colon:	n/a
38	chr12:117534674-117534724	PrEC	prostate:	n/a
39	chr12:117534674-117534724	HCT-116	colon:	n/a
40	chr12:117534674-117534724	AG04450	lung:	fetal
41	chr12:117534674-117534724	BE2_C	brain:	n/a
42	chr12:117534674-117534724	AG10803	skin:	n/a
43	chr12:117534674-117534724	MCF10A-Er-Src	breast:	n/a
44	chr12:117534674-117534724	SK-N-MC	brain:	n/a
45	chr12:117534674-117534724	HCPEpiC	choroid plexus:	n/a
46	chr12:117534674-117534724	HepG2	liver:	n/a
47	chr12:117534674-117534724	SKMC	muscle:	n/a
48	chr12:117534674-117534724	HEK293	kidney:	embryo
49	chr12:117534674-117534724	HCM	heart:	n/a
50	chr12:117534674-117534724	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117532874..117535627-chr12:117535692..117537759,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258285	TF binding region
ENSG00000258285	CpG island
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11068326	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12371881	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56095597	0.97[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10850758	FBXW8	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117528800-117536000	Weak transcription	Right Atrium	heart
3	chr12:117529400-117534800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:117529600-117536000	Weak transcription	Lung	lung
5	chr12:117529800-117535000	Weak transcription	Spleen	Spleen
6	chr12:117530000-117535000	Weak transcription	K562	blood
7	chr12:117530200-117535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:117531600-117535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117532400-117535200	Weak transcription	Fetal Thymus	thymus
10	chr12:117532600-117534800	Weak transcription	Fetal Heart	heart
11	chr12:117532600-117535200	Enhancers	Stomach Mucosa	stomach
12	chr12:117532600-117535400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:117533600-117536000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr12:117533800-117534800	Enhancers	Gastric	stomach
15	chr12:117533800-117535200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:117533800-117535800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:117534000-117535200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr12:117534000-117535200	Enhancers	Left Ventricle	heart
19	chr12:117534200-117535200	Transcr. at gene 5' and 3'	HepG2	liver
20	chr12:117534200-117535800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr12:117534200-117536000	Weak transcription	Right Ventricle	heart
22	chr12:117534400-117536800	Flanking Active TSS	Dnd41	blood
23	chr12:117534600-117534800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:117534600-117535400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:117534600-117535400	Flanking Active TSS	Pancreas	Pancrea
26	chr12:117534600-117535600	Enhancers	GM12878-XiMat	blood
27	chr12:117534600-117535800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:117534600-117535800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr12:117534600-117535800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:117534600-117535800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:117534600-117536200	Flanking Active TSS	A549	lung
32	chr12:117534600-117537400	Active TSS	Brain Anterior Caudate	brain

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