Variant report

Variant	rs58288213
Chromosome Location	chr4:78108893-78108894
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	SPI1	chr4:78108566-78108946	HL-60	blood:	n/a	n/a
2	ELF1	chr4:78108733-78108974	K562	blood:	n/a	chr4:78108889-78108902

Variant related genes	Relation type
CCNG2	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10006360	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010725	0.83[ASN][1000 genomes]
rs10014391	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10017796	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017878	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10022252	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027894	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1006041	0.93[ASN][1000 genomes]
rs10518167	0.93[ASN][1000 genomes]
rs11943130	0.95[ASN][1000 genomes]
rs13140196	0.89[AFR][1000 genomes]
rs17002416	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002418	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306410	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28367533	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373623	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416544	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526402	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697073	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718050	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150060	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4150092	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150099	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150103	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4293811	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58507229	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58529735	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59124751	0.95[ASN][1000 genomes]
rs59757896	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60714814	0.83[ASN][1000 genomes]
rs6848898	1.00[ASN][1000 genomes]
rs6851055	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852578	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861692	0.95[ASN][1000 genomes]
rs72861694	0.95[ASN][1000 genomes]
rs72863250	0.95[ASN][1000 genomes]
rs72863264	0.93[ASN][1000 genomes]
rs72863265	0.93[ASN][1000 genomes]
rs72863270	0.93[ASN][1000 genomes]
rs9307246	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654188	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654189	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654190	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995778	0.83[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	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78090400-78109800	Weak transcription	Gastric	stomach
2	chr4:78094400-78114200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:78099400-78109800	Weak transcription	Fetal Stomach	stomach
4	chr4:78099400-78111200	Weak transcription	NHEK	skin
5	chr4:78101200-78109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:78107400-78111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:78108000-78109000	Enhancers	Brain Angular Gyrus	brain
8	chr4:78108000-78109000	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:78108000-78109000	Enhancers	Brain Substantia Nigra	brain
10	chr4:78108000-78110200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:78108000-78110200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:78108000-78111000	Enhancers	HSMMtube	muscle
13	chr4:78108000-78112000	Enhancers	Fetal Muscle Leg	muscle
14	chr4:78108200-78109000	Enhancers	Brain Hippocampus Middle	brain
15	chr4:78108200-78109000	Enhancers	Fetal Brain Female	brain
16	chr4:78108200-78111400	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:78108400-78109000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:78108400-78109000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:78108400-78109000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:78108400-78109000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr4:78108600-78109000	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:78108600-78109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:78108600-78109000	Enhancers	Fetal Thymus	thymus
24	chr4:78108600-78109000	Enhancers	Thymus	Thymus
25	chr4:78108800-78109600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:78108800-78109600	Weak transcription	Fetal Brain Male	brain
27	chr4:78108800-78110200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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