Variant report

Variant	rs10055816
Chromosome Location	chr5:1887933-1887934
allele	C/G
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	POLR2A	chr5:1881481-1891348	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
2	chr5:1799569..1802884-chr5:1886598..1889173,4	MCF-7	breast:
3	chr5:1887761..1891597-chr5:1896215..1899107,3	K562	blood:
4	chr5:1887482..1890226-chr5:1890300..1892183,2	MCF-7	breast:
5	chr5:1887761..1890459-chr5:1897295..1899107,2	K562	blood:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59840368	0.86[EUR][1000 genomes]
rs61581240	0.86[EUR][1000 genomes]
rs73030207	0.86[EUR][1000 genomes]
rs73030208	0.86[EUR][1000 genomes]
rs73030215	0.86[EUR][1000 genomes]
rs73030220	0.86[EUR][1000 genomes]
rs73030221	0.86[EUR][1000 genomes]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1884200-1898200	Weak transcription	Gastric	stomach
2	chr5:1886000-1888200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:1886200-1888000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:1886200-1888000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:1886400-1888000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:1887000-1888000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:1887200-1888000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:1887200-1888200	Bivalent Enhancer	Spleen	Spleen
9	chr5:1887400-1888200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:1887400-1888200	Flanking Active TSS	HMEC	breast
11	chr5:1887400-1889600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:1887600-1888000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr5:1887600-1888000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:1887600-1888000	Flanking Active TSS	NHEK	skin
15	chr5:1887600-1888800	Enhancers	Fetal Heart	heart
16	chr5:1887800-1888000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr5:1887800-1888000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr5:1887800-1888000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr5:1887800-1888000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:1887800-1888200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:1887800-1888200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:1887800-1888600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:1887800-1891600	Enhancers	Esophagus	oesophagus

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