Variant report

Variant	rs564978886
Chromosome Location	chr5:1886689-1886690
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	POLR2A	chr5:1882409-1891588	MCF10A-Er-Src	breast:	n/a	n/a
2	CTBP2	chr5:1885936-1887086	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:1881481-1891348	MCF10A-Er-Src	breast:	n/a	n/a
4	SUZ12	chr5:1885091-1887033	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:1669626..1671226-chr5:1885591..1887218,2	MCF-7	breast:
2	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
3	chr5:1799569..1802884-chr5:1886598..1889173,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249326	TF binding region
IRX4	TF binding region
ENSG00000145494	Chromatin interaction
ENSG00000171421	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv596892	chr5:1832240-1892759	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv596893	chr5:1839498-1892759	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv881470	chr5:1850563-1892759	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv881188	chr5:1852284-1892759	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv822962	chr5:1877770-1888630	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv880886	chr5:1880891-1936443	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv3407995	chr5:1885777-1888525	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv880460	chr5:1886471-1936443	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1880800-1887800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr5:1881400-1886800	Bivalent Enhancer	Fetal Stomach	stomach
3	chr5:1882400-1887600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:1882400-1887600	Active TSS	NHEK	skin
5	chr5:1882400-1887800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:1883600-1886800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:1884200-1898200	Weak transcription	Gastric	stomach
8	chr5:1884400-1887000	Weak transcription	Right Atrium	heart
9	chr5:1885000-1887800	Active TSS	Esophagus	oesophagus
10	chr5:1885400-1887400	Active TSS	HMEC	breast
11	chr5:1885400-1887600	Active TSS	Right Ventricle	heart
12	chr5:1885400-1887800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:1885600-1887000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:1885600-1887800	Active TSS	Left Ventricle	heart
15	chr5:1885800-1886800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr5:1886000-1887000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:1886000-1887600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:1886000-1888200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:1886200-1887600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:1886200-1887800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr5:1886200-1888000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:1886200-1888000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:1886400-1886800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:1886400-1886800	Bivalent Enhancer	Fetal Brain Female	brain
25	chr5:1886400-1887000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr5:1886400-1887000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:1886400-1887000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr5:1886400-1887400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:1886400-1887600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:1886400-1887800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:1886400-1888000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:1886600-1886800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:1886600-1886800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:1886600-1887000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:1886600-1887400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr5:1886600-1887600	Bivalent Enhancer	Fetal Brain Male	brain
37	chr5:1886600-1887600	Weak transcription	Fetal Heart	heart
38	chr5:1886600-1887800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:1886600-1887800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:1886600-1887800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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