Variant report

Variant	rs1469680
Chromosome Location	chr5:150948537-150948538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr5:150948291-150951634	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr5:150948263-150950666	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr5:150948455-150949439	ECC-1	luminal epithelium:	n/a	n/a
4	EBF1	chr5:150948537-150949208	GM12878	blood:	n/a	n/a
5	FOXM1	chr5:150948300-150949441	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr5:150948378-150949007	ECC-1	luminal epithelium:	n/a	n/a
7	PAX5	chr5:150948528-150949069	GM12878	blood:	n/a	n/a
8	EP300	chr5:150948396-150949311	ECC-1	luminal epithelium:	n/a	n/a
9	EBF1	chr5:150948529-150948998	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:150948108-150950740	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr5:150948375-150949132	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr5:150948355-150949042	ECC-1	luminal epithelium:	n/a	n/a
13	FOXM1	chr5:150948304-150949232	ECC-1	luminal epithelium:	n/a	n/a
14	ESR1	chr5:150948479-150949056	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr5:150948459-150949142	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr5:150948287-150951635	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165 chr5:150951194-150951201
17	POLR2A	chr5:150947426-150949549	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr5:150948268-150951579	ECC-1	luminal epithelium:	n/a	n/a
19	YY1	chr5:150948456-150949066	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:150948506-150948556	Jurkat	blood:	n/a
2	chr5:150948506-150948556	SAEC	small airway:	n/a
3	chr5:150948506-150948556	RPTEC	kidney:	n/a
4	chr5:150948506-150948556	GM12891	blood:	n/a
5	chr5:150948506-150948556	HUVEC	blood vessel:	n/a
6	chr5:150948506-150948556	HCM	heart:	n/a
7	chr5:150948506-150948556	HIPEpiC	eye:	n/a
8	chr5:150948506-150948556	MCF-7	breast:	n/a
9	chr5:150948506-150948556	GM12892	blood:	n/a
10	chr5:150948506-150948556	A549	lung:	n/a
11	chr5:150948506-150948556	GM12878	blood:	n/a
12	chr5:150948506-150948556	HEK293	kidney:	embryo
13	chr5:150948506-150948556	ECC-1	luminal epithelium:	n/a
14	chr5:150948506-150948556	HL-60	blood:	n/a
15	chr5:150948506-150948556	T-47D	breast:	n/a
16	chr5:150948506-150948556	AG09309	skin:	n/a
17	chr5:150948506-150948556	AG04450	lung:	fetal
18	chr5:150948506-150948556	IMR90	lung:	fetal
19	chr5:150948506-150948556	SK-N-MC	brain:	n/a
20	chr5:150948506-150948556	HEEpiC	esophagus:	n/a
21	chr5:150948506-150948556	HCPEpiC	choroid plexus:	n/a
22	chr5:150948506-150948556	ovcar-3	ovarian:	n/a
23	chr5:150948506-150948556	HCT-116	colon:	n/a
24	chr5:150948506-150948556	PANC-1	pancreas:	n/a
25	chr5:150948506-150948556	Caco-2	colon:	n/a
26	chr5:150948506-150948556	HMEC	breast:	n/a
27	chr5:150948506-150948556	NB4	blood:	n/a
28	chr5:150948506-150948556	SKMC	muscle:	n/a
29	chr5:150948506-150948556	HepG2	liver:	n/a
30	chr5:150948506-150948556	HCF	heart:	n/a
31	chr5:150948506-150948556	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:150948506-150948556	AG04449	skin:	fetal
33	chr5:150948506-150948556	MCF10A-Er-Src	breast:	n/a
34	chr5:150948506-150948556	AoSMC	blood vessel:	n/a
35	chr5:150948506-150948556	PFSK-1	brain:	n/a
36	chr5:150948506-150948556	ProgFib	skin:	n/a
37	chr5:150948506-150948556	BJ	skin:	n/a
38	chr5:150948506-150948556	NT2-D1	testis:	n/a
39	chr5:150948506-150948556	AG09319	gingival:	n/a
40	chr5:150948506-150948556	LNCaP	prostate:	n/a
41	chr5:150948506-150948556	PrEC	prostate:	n/a
42	chr5:150948506-150948556	SK-N-SH_RA	brain:	n/a
43	chr5:150948506-150948556	CMK	blood:	n/a
44	chr5:150948506-150948556	BE2_C	brain:	n/a
45	chr5:150948506-150948556	HRCEpiC	kidney:	n/a
46	chr5:150948506-150948556	H1-hESC	embryonic stem cell:	embryo
47	chr5:150948506-150948556	HRPEpiC	eye:	n/a
48	chr5:150948506-150948556	K562	blood:	n/a
49	chr5:150948506-150948556	SK-N-SH	brain:	n/a
50	chr5:150948506-150948556	GM06990	blood:	n/a

No data

Variant related genes	Relation type
FAT2	TF binding region
FAT2	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1368369	0.82[ASN][1000 genomes]
rs1432864	0.84[ASN][1000 genomes]
rs1465690	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897564	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966639	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278370	0.88[AMR][1000 genomes]
rs2278371	0.88[AMR][1000 genomes]
rs3097778	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3097780	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3097827	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4958460	0.81[AMR][1000 genomes]
rs7723204	0.83[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	esv20633	chr5:150941705-150955343	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150934200-150949600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:150937000-150948600	Weak transcription	Right Atrium	heart
3	chr5:150937600-150948600	Weak transcription	Adipose Nuclei	Adipose
4	chr5:150946000-150948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:150948000-150949600	Genic enhancers	HMEC	breast
6	chr5:150948000-150950200	Weak transcription	Spleen	Spleen
7	chr5:150948200-150948600	ZNF genes & repeats	GM12878-XiMat	blood
8	chr5:150948400-150948600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:150948400-150948600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:150948400-150949200	Genic enhancers	NHEK	skin
11	chr5:150948400-150949600	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:150948400-150949800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:150948400-150950000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:150948400-150951200	Enhancers	Esophagus	oesophagus
15	chr5:150948400-150953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:150948400-150953600	Enhancers	Fetal Thymus	thymus

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