Variant report

Variant	rs17115573
Chromosome Location	chr14:45252406-45252407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr14:45251785-45252455	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr14:45252391-45252541	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr14:45251868-45252649	HCT-116	colon:	n/a	chr14:45252328-45252337
4	EP300	chr14:45252177-45252497	SK-N-SH_RA	brain:	n/a	chr14:45252329-45252338 chr14:45252328-45252337
5	FOS	chr14:45252162-45252489	MCF10A-Er-Src	breast:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338
6	FOSL2	chr14:45252052-45252460	SK-N-SH	brain:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338
7	FOXM1	chr14:45251534-45253096	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr14:45251737-45252972	ECC-1	luminal epithelium:	n/a	chr14:45251993-45252004
9	ESR1	chr14:45251798-45252946	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr14:45251183-45253206	ECC-1	luminal epithelium:	n/a	chr14:45252329-45252338 chr14:45251992-45252006 chr14:45252328-45252337
11	RAD21	chr14:45251728-45252569	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr14:45251886-45252567	SK-N-SH	brain:	n/a	chr14:45252257-45252273
13	TEAD4	chr14:45251691-45253045	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr14:45251734-45252494	ECC-1	luminal epithelium:	n/a	chr14:45252328-45252337
15	TEAD4	chr14:45252059-45252411	SK-N-SH	brain:	n/a	n/a
16	STAT3	chr14:45252259-45252436	MCF10A-Er-Src	breast:	n/a	chr14:45252329-45252338 chr14:45252328-45252337
17	ESR1	chr14:45251836-45252969	ECC-1	luminal epithelium:	n/a	n/a
18	NR3C1	chr14:45251792-45252542	ECC-1	luminal epithelium:	n/a	n/a
19	TEAD4	chr14:45251595-45253022	ECC-1	luminal epithelium:	n/a	n/a
20	NFIC	chr14:45251559-45253146	ECC-1	luminal epithelium:	n/a	chr14:45252257-45252273
21	ESR1	chr14:45251789-45252776	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr14:45251741-45252916	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr14:45251758-45252694	ECC-1	luminal epithelium:	n/a	chr14:45252328-45252337
24	JUND	chr14:45251993-45252528	SK-N-SH	brain:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338 chr14:45252327-45252338
25	FOS	chr14:45252073-45252507	MCF10A-Er-Src	breast:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338
26	ESR1	chr14:45251812-45252465	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr14:45251845-45252963	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chr14:45251740-45253100	ECC-1	luminal epithelium:	n/a	chr14:45252329-45252338 chr14:45251992-45252006 chr14:45252328-45252337
29	JUND	chr14:45252161-45252497	HepG2	liver:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338 chr14:45252327-45252338
30	TCF12	chr14:45251489-45253038	ECC-1	luminal epithelium:	n/a	chr14:45253016-45253025
31	RAD21	chr14:45251755-45252655	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr14:45251799-45252802	ECC-1	luminal epithelium:	n/a	chr14:45251993-45252004
33	EP300	chr14:45251837-45252516	SK-N-SH	brain:	n/a	chr14:45252329-45252338 chr14:45251992-45252006 chr14:45252328-45252337
34	NFIC	chr14:45251686-45253066	ECC-1	luminal epithelium:	n/a	chr14:45252257-45252273
35	GATA3	chr14:45251850-45252513	SK-N-SH	brain:	n/a	n/a
36	NR3C1	chr14:45251752-45252489	ECC-1	luminal epithelium:	n/a	n/a
37	FOXA1	chr14:45251975-45252419	ECC-1	luminal epithelium:	n/a	n/a
38	GATA3	chr14:45251855-45252502	SK-N-SH	brain:	n/a	n/a
39	SRF	chr14:45251741-45252618	ECC-1	luminal epithelium:	n/a	n/a
40	EP300	chr14:45251860-45252496	SK-N-SH_RA	brain:	n/a	chr14:45252329-45252338 chr14:45251992-45252006 chr14:45252328-45252337
41	FOXM1	chr14:45251593-45253623	ECC-1	luminal epithelium:	n/a	n/a
42	FOS	chr14:45252159-45252464	MCF10A-Er-Src	breast:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338
43	TCF12	chr14:45251759-45252497	SK-N-SH	brain:	n/a	n/a
44	TCF12	chr14:45251493-45253066	ECC-1	luminal epithelium:	n/a	chr14:45253016-45253025
45	FOS	chr14:45252136-45252529	MCF10A-Er-Src	breast:	n/a	chr14:45252329-45252337 chr14:45252328-45252337 chr14:45252328-45252338 chr14:45252329-45252336 chr14:45252329-45252338

Variant related genes	Relation type
ENSG00000258998	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10131495	1.00[EUR][1000 genomes]
rs10483550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12147649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12147748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12147755	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12185016	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17632500	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17632563	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17705426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17705485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1952394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41402554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59126628	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054134	chr14:44501865-45271806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv542074	chr14:44501865-45271806	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv901836	chr14:45054777-45283699	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2758356	chr14:45057833-45313666	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2759986	chr14:45057833-45313666	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv901838	chr14:45069249-45297050	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1050829	chr14:45157388-45318232	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2757566	chr14:45169402-45254884	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
12	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
13	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
15	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45248200-45254600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:45248400-45252800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:45250400-45260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:45251000-45252800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:45252000-45253200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:45252400-45252800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:45252400-45254200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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