Variant report

Variant	rs73248698
Chromosome Location	chr4:53613926-53613927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53613493..53615535-chr4:53616746..53619383,2	MCF-7	breast:
2	chr4:53607412..53609037-chr4:53612551..53614224,2	MCF-7	breast:
3	chr4:53612677..53614454-chr4:53615056..53617961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266656	Chromatin interaction
ENSG00000226887	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10008073	0.81[EUR][1000 genomes]
rs10012770	0.82[EUR][1000 genomes]
rs10025825	0.82[EUR][1000 genomes]
rs10026175	0.82[EUR][1000 genomes]
rs10028558	0.82[EUR][1000 genomes]
rs10028567	0.82[EUR][1000 genomes]
rs1483686	0.86[EUR][1000 genomes]
rs1483687	0.86[EUR][1000 genomes]
rs17082081	0.81[EUR][1000 genomes]
rs17613967	0.82[EUR][1000 genomes]
rs2411259	0.83[EUR][1000 genomes]
rs28446124	0.80[EUR][1000 genomes]
rs28454903	0.83[EUR][1000 genomes]
rs28489424	0.83[EUR][1000 genomes]
rs28526700	0.86[EUR][1000 genomes]
rs28609158	0.82[EUR][1000 genomes]
rs28733375	0.86[EUR][1000 genomes]
rs28735908	0.83[EUR][1000 genomes]
rs28740880	0.82[EUR][1000 genomes]
rs28811693	0.86[EUR][1000 genomes]
rs2898676	0.82[EUR][1000 genomes]
rs2898677	0.82[EUR][1000 genomes]
rs4242020	0.83[EUR][1000 genomes]
rs4309903	0.83[EUR][1000 genomes]
rs4318712	0.82[EUR][1000 genomes]
rs4864673	0.83[EUR][1000 genomes]
rs4865422	0.83[EUR][1000 genomes]
rs4990628	0.83[EUR][1000 genomes]
rs5012592	0.83[EUR][1000 genomes]
rs55657347	0.82[EUR][1000 genomes]
rs57615871	0.82[EUR][1000 genomes]
rs62338801	0.83[EUR][1000 genomes]
rs62338805	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1005869	chr4:53571901-53649247	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr4:53604400-53616600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:53608200-53615800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:53608200-53616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:53608200-53616600	Weak transcription	Lung	lung
5	chr4:53608800-53616600	Weak transcription	NHEK	skin
6	chr4:53609200-53616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:53609800-53615400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:53609800-53615600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:53610200-53616400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:53610200-53616600	Weak transcription	HMEC	breast
11	chr4:53610600-53616000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:53610600-53616200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:53611600-53616800	Weak transcription	Left Ventricle	heart
14	chr4:53611800-53614200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:53611800-53614400	Weak transcription	Placenta	Placenta
16	chr4:53611800-53616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:53612000-53614600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:53612400-53616200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:53613000-53614400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:53613000-53614400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:53613000-53614600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:53613000-53615600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:53613800-53614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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