Variant report

Variant	rs12188264
Chromosome Location	chr5:107010064-107010065
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	RAD21	chr5:107003937-107010170	SK-N-SH	brain:	n/a	chr5:107007238-107007250 chr5:107006656-107006670
2	CTCF	chr5:107008222-107010148	SK-N-SH	brain:	n/a	chr5:107009562-107009571 chr5:107008477-107008490 chr5:107009529-107009545

No.	Distal block	Cell Line	Cell type
1	chr17:64618740..64621100-chr5:107008124..107011007,2	MCF-7	breast:
2	chr5:106763769..106766443-chr5:107007401..107010371,2	MCF-7	breast:
3	chr5:107005443..107007436-chr5:107008039..107010506,2	MCF-7	breast:

Variant related genes	Relation type
EFNA5	TF binding region
ENSG00000184349	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10039705	0.90[ASN][1000 genomes]
rs10044317	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653196	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13361436	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1490837	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1490838	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1490840	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17160354	0.90[ASN][1000 genomes]
rs17160373	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17160389	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3987979	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55885500	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6877006	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73777709	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107009400-107011200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:107009400-107023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:107009600-107010200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:107009600-107010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:107009600-107010400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:107009600-107011200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:107009600-107011200	Enhancers	HMEC	breast
8	chr5:107009600-107015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:107009600-107018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:107009800-107010200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:107009800-107010600	Enhancers	Hela-S3	cervix
12	chr5:107009800-107010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:107009800-107011600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:107009800-107017800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:107010000-107010800	Enhancers	A549	lung
16	chr5:107010000-107010800	Enhancers	NHEK	skin
17	chr5:107010000-107011200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:107010000-107011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:107010000-107011600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:107010000-107011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:107010000-107018200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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