Variant report

Variant	rs13272317
Chromosome Location	chr8:126008339-126008340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:126007876-126008399	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr8:126007974-126008359	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125984836..125986540-chr8:126007699..126010340,2	K562	blood:
2	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
3	chr8:125989243..125991340-chr8:126007563..126010410,2	MCF-7	breast:
4	chr8:125983810..125986467-chr8:126006601..126008815,2	MCF-7	breast:
5	chr8:125551671..125554423-chr8:126007774..126010407,2	MCF-7	breast:
6	chr8:125971999..125973720-chr8:126007158..126010144,2	MCF-7	breast:
7	chr8:125991586..125993833-chr8:126007378..126010169,2	MCF-7	breast:
8	chr8:125984368..125986336-chr8:126007005..126009199,2	K562	blood:

No data

Variant related genes	Relation type
SQLE	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12546767	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12550611	0.83[AMR][1000 genomes]
rs12682497	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13250545	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13268726	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13277078	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1427084	0.83[AMR][1000 genomes]
rs16900167	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2382997	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2590671	0.86[AMR][1000 genomes]
rs2590673	0.85[AMR][1000 genomes]
rs2590675	0.85[AMR][1000 genomes]
rs34132029	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35197498	0.86[AMR][1000 genomes]
rs68032922	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125994400-126009800	Weak transcription	Pancreas	Pancrea
2	chr8:125995200-126008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:125997400-126009800	Weak transcription	Fetal Lung	lung
4	chr8:125998600-126009400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:126000400-126009600	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:126002800-126009800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:126004200-126009600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:126004200-126009800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:126006000-126009600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:126006000-126009600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:126006000-126009600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:126007200-126009400	Weak transcription	K562	blood
13	chr8:126007400-126009200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:126007400-126009200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:126007400-126009400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:126007800-126009800	Weak transcription	Placenta	Placenta
17	chr8:126008200-126008400	Enhancers	Fetal Brain Female	brain
18	chr8:126008200-126009400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:126008200-126009400	Enhancers	HepG2	liver
20	chr8:126008200-126009600	Weak transcription	Fetal Heart	heart

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