Variant report

Variant	rs2472599
Chromosome Location	chr13:50530502-50530503
allele	G/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	SPI1	chr13:50530347-50530802	HL-60	blood:	n/a	n/a
2	ZNF263	chr13:50530074-50530683	HEK293-T-REx	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD7-1	chr13:50526411-50531031	NONHSAT033771

Variant related genes	Relation type
ENSG00000264526	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11617754	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2066571	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2475837	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28798976	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3116591	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73489861	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73489862	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73489867	0.81[AFR][1000 genomes]
rs790943	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7986337	0.92[ASN][1000 genomes]
rs9535407	0.84[ASN][1000 genomes]
rs9568354	0.83[ASN][1000 genomes]
rs9568357	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568366	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834429	chr13:50509784-50536186	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1837591	chr13:50513148-50530603	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
4	nsv561630	chr13:50525141-50545402	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 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	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
2	chr13:50513400-50532600	Weak transcription	Ovary	ovary
3	chr13:50513400-50532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:50525800-50532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:50529400-50530600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr13:50529400-50531000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:50529400-50531600	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:50529400-50534000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:50529600-50531600	Weak transcription	Aorta	Aorta
12	chr13:50529600-50537000	Weak transcription	Psoas Muscle	Psoas
13	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:50529800-50530800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:50529800-50532600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:50529800-50536600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:50529800-50539400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:50529800-50543200	Weak transcription	Osteobl	bone
19	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:50530000-50536400	Weak transcription	Placenta	Placenta
21	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
22	chr13:50530400-50537200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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