Variant report

Variant	rs548818622
Chromosome Location	chr4:69047119-69047120
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	RCOR1	chr4:69046833-69047156	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr4:69046612-69047230	MCF10A-Er-Src	breast:	n/a	chr4:69047039-69047047
3	EP300	chr4:69046724-69047277	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr4:69046592-69047230	MCF10A-Er-Src	breast:	n/a	chr4:69047039-69047047
5	TCF7L2	chr4:69046617-69047183	Hela-S3	cervix:	n/a	n/a
6	EP300	chr4:69046742-69047412	ECC-1	luminal epithelium:	n/a	n/a
7	MYC	chr4:69046815-69047230	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr4:69046958-69047218	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:69046570-69047308	MCF10A-Er-Src	breast:	n/a	chr4:69047007-69047016
10	FOS	chr4:69046573-69047258	MCF10A-Er-Src	breast:	n/a	chr4:69047007-69047016
11	FOS	chr4:69046607-69047219	MCF10A-Er-Src	breast:	n/a	chr4:69047007-69047016
12	CEBPB	chr4:69046736-69047277	HCT-116	colon:	n/a	n/a
13	SMC3	chr4:69046740-69047181	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:69046473-69047159	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr4:69046571-69047177	Hela-S3	cervix:	n/a	chr4:69047007-69047016
16	TEAD4	chr4:69046785-69047389	ECC-1	luminal epithelium:	n/a	n/a
17	BRCA1	chr4:69046738-69047214	Hela-S3	cervix:	n/a	n/a
18	TEAD4	chr4:69046836-69047311	ECC-1	luminal epithelium:	n/a	n/a
19	STAT3	chr4:69046607-69047230	MCF10A-Er-Src	breast:	n/a	chr4:69047039-69047047
20	FOSL2	chr4:69046793-69047283	A549	lung:	n/a	chr4:69047007-69047016
21	STAT3	chr4:69046872-69047201	Hela-S3	cervix:	n/a	chr4:69047039-69047047
22	STAT3	chr4:69046901-69047515	MCF10A-Er-Src	breast:	n/a	chr4:69047039-69047047
23	FOS	chr4:69046652-69047284	MCF10A-Er-Src	breast:	n/a	chr4:69047007-69047016
24	CHD2	chr4:69046647-69047188	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr4:69046723-69047292	Hela-S3	cervix:	n/a	n/a
26	EP300	chr4:69046809-69047360	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr4:69046925-69047238	MCF-7	breast:	n/a	n/a
28	STAT3	chr4:69046666-69047420	MCF10A-Er-Src	breast:	n/a	chr4:69047039-69047047

Variant related genes	Relation type
FTLP10	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv4371	chr4:69046637-69081620	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69046600-69047200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr4:69046600-69047400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:69046600-69047400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:69046600-69047400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:69046600-69047400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:69046600-69047400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:69046600-69047400	Enhancers	HMEC	breast
8	chr4:69046600-69047400	Enhancers	NHEK	skin
9	chr4:69046600-69047800	Enhancers	Hela-S3	cervix
10	chr4:69046800-69047200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:69046800-69047400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:69046800-69047400	Enhancers	A549	lung
13	chr4:69046800-69047800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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