Variant report

Variant	rs9316547
Chromosome Location	chr13:52126541-52126542
allele	A/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	TEAD4	chr13:52126069-52126566	K562	blood:	n/a	n/a
2	SPI1	chr13:52126237-52126573	GM12878	blood:	n/a	n/a
3	SPI1	chr13:52126182-52126621	GM12891	blood:	n/a	n/a
4	SPI1	chr13:52126179-52126763	GM12878	blood:	n/a	n/a
5	GATA3	chr13:52125892-52126590	SK-N-SH	brain:	n/a	n/a
6	SPI1	chr13:52126174-52126581	GM12891	blood:	n/a	n/a
7	MAX	chr13:52126130-52126626	NB4	blood:	n/a	chr13:52126339-52126349
8	MYC	chr13:52126143-52126786	NB4	blood:	n/a	chr13:52126339-52126349
9	NFYB	chr13:52126279-52126591	GM12878	blood:	n/a	n/a
10	SPI1	chr13:52126176-52126604	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52097331..52099871-chr13:52124586..52126544,2	MCF-7	breast:
2	chr13:52026832..52028649-chr13:52125525..52127655,3	MCF-7	breast:
3	chr13:52125996..52128858-chr13:52157695..52159658,2	MCF-7	breast:

Variant related genes	Relation type
MIR4703	TF binding region
ENSG00000236778	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000139668	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1024271	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12585249	0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17075902	0.90[JPT][hapmap]
rs3803201	0.90[JPT][hapmap]
rs3825410	0.90[JPT][hapmap]
rs4075628	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4625625	0.90[JPT][hapmap]
rs4941703	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4943005	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs745374	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9316548	0.85[ASN][1000 genomes]
rs9316551	0.81[JPT][hapmap]
rs9563063	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9563065	0.81[ASN][1000 genomes]
rs9563067	0.90[JPT][hapmap]
rs9568633	0.85[ASN][1000 genomes]
rs9568644	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs9568650	0.90[JPT][hapmap]
rs9805172	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	esv1797261	chr13:52100949-52139113	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52116800-52132000	Weak transcription	Pancreas	Pancrea
2	chr13:52122800-52126800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:52123800-52129200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:52123800-52129400	Weak transcription	NHEK	skin
5	chr13:52124000-52129400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:52124000-52130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:52124200-52131600	Weak transcription	HepG2	liver
8	chr13:52124400-52132000	Weak transcription	A549	lung
9	chr13:52125200-52126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:52125600-52127000	Enhancers	GM12878-XiMat	blood
11	chr13:52125800-52127000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:52125800-52128200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:52126000-52126600	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:52126000-52127000	Enhancers	Brain Substantia Nigra	brain
15	chr13:52126000-52127200	Enhancers	Brain Anterior Caudate	brain
16	chr13:52126000-52127200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:52126000-52128200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:52126200-52126600	Enhancers	Primary B cells from peripheral blood	blood
19	chr13:52126200-52126800	Enhancers	Adipose Nuclei	Adipose
20	chr13:52126200-52127000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:52126400-52127000	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:52126400-52127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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