Variant report

Variant	rs1966639
Chromosome Location	chr5:150948977-150948978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:150948581-150949061	ECC-1	luminal epithelium:	n/a	n/a
2	FOXA1	chr5:150948904-150949238	ECC-1	luminal epithelium:	n/a	n/a
3	FOS	chr5:150948737-150949041	MCF10A-Er-Src	breast:	n/a	n/a
4	BATF	chr5:150948643-150949046	GM12878	blood:	n/a	n/a
5	YY1	chr5:150948701-150949024	GM12878	blood:	n/a	n/a
6	BRCA1	chr5:150948882-150949052	GM12878	blood:	n/a	n/a
7	NFIC	chr5:150948291-150951634	ECC-1	luminal epithelium:	n/a	n/a
8	YY1	chr5:150948634-150949018	GM12878	blood:	n/a	n/a
9	NFIC	chr5:150948263-150950666	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr5:150948455-150949439	ECC-1	luminal epithelium:	n/a	n/a
11	EBF1	chr5:150948537-150949208	GM12878	blood:	n/a	n/a
12	FOXM1	chr5:150948300-150949441	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr5:150948378-150949007	ECC-1	luminal epithelium:	n/a	n/a
14	ATF2	chr5:150948700-150948986	GM12878	blood:	n/a	n/a
15	PAX5	chr5:150948528-150949069	GM12878	blood:	n/a	n/a
16	EP300	chr5:150948396-150949311	ECC-1	luminal epithelium:	n/a	n/a
17	ZBTB33	chr5:150948791-150949102	K562	blood:	n/a	n/a
18	EGR1	chr5:150948657-150949012	ECC-1	luminal epithelium:	n/a	n/a
19	EBF1	chr5:150948529-150948998	GM12878	blood:	n/a	n/a
20	STAT3	chr5:150948957-150949003	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:150948108-150950740	ECC-1	luminal epithelium:	n/a	n/a
22	PAX5	chr5:150948587-150948981	GM12878	blood:	n/a	n/a
23	BHLHE40	chr5:150948879-150949010	GM12878	blood:	n/a	n/a
24	TEAD4	chr5:150948375-150949132	ECC-1	luminal epithelium:	n/a	n/a
25	ZNF143	chr5:150948906-150949127	GM12878	blood:	n/a	n/a
26	ESR1	chr5:150948355-150949042	ECC-1	luminal epithelium:	n/a	n/a
27	EGR1	chr5:150948794-150949005	K562	blood:	n/a	n/a
28	FOXM1	chr5:150948304-150949232	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr5:150948479-150949056	ECC-1	luminal epithelium:	n/a	n/a
30	TEAD4	chr5:150948459-150949142	ECC-1	luminal epithelium:	n/a	n/a
31	ZBTB33	chr5:150948753-150949089	GM12878	blood:	n/a	n/a
32	FOS	chr5:150948813-150949005	MCF10A-Er-Src	breast:	n/a	n/a
33	TCF12	chr5:150948287-150951635	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165 chr5:150951194-150951201
34	POLR2A	chr5:150947426-150949549	ECC-1	luminal epithelium:	n/a	n/a
35	CHD2	chr5:150948722-150949095	GM12878	blood:	n/a	n/a
36	PAX5	chr5:150948629-150948997	GM12891	blood:	n/a	n/a
37	EP300	chr5:150948268-150951579	ECC-1	luminal epithelium:	n/a	n/a
38	YY1	chr5:150948456-150949066	ECC-1	luminal epithelium:	n/a	n/a
39	CHD2	chr5:150948835-150949099	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:150948647..150952629-chr5:150970748..150974404,4	MCF-7	breast:

No data

Variant related genes	Relation type
FAT2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1465690	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469680	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1897564	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278370	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2278371	0.87[AMR][1000 genomes]
rs2881557	0.89[ASN][1000 genomes]
rs3097778	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3097780	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3097827	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4958460	0.90[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:20 , 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	chr5:150948000-150949600	Genic enhancers	HMEC	breast
3	chr5:150948000-150950200	Weak transcription	Spleen	Spleen
4	chr5:150948400-150949200	Genic enhancers	NHEK	skin
5	chr5:150948400-150949600	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:150948400-150949800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:150948400-150950000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:150948400-150951200	Enhancers	Esophagus	oesophagus
9	chr5:150948400-150953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:150948400-150953600	Enhancers	Fetal Thymus	thymus
11	chr5:150948600-150949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:150948600-150949000	Enhancers	Osteobl	bone
13	chr5:150948600-150949400	Enhancers	Adipose Nuclei	Adipose
14	chr5:150948600-150949600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:150948600-150949600	Enhancers	Right Atrium	heart
16	chr5:150948600-150951000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:150948600-150951400	Enhancers	Placenta	Placenta
18	chr5:150948600-150952600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:150948800-150949400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:150948800-150949400	Enhancers	GM12878-XiMat	blood

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