Variant report

Variant	rs4511242
Chromosome Location	chr10:45601369-45601370
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10751371	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10751373	0.84[EUR][1000 genomes]
rs10793584	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12413346	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12414221	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12415640	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1856591	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2153333	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3862873	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3862877	0.84[EUR][1000 genomes]
rs3927771	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4068923	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4068926	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4113135	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4379782	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4453185	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4472887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4500437	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4948657	0.84[EUR][1000 genomes]
rs4948945	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4948948	0.90[EUR][1000 genomes]
rs4948949	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5006852	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5006853	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61852601	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6593460	0.86[EUR][1000 genomes]
rs7080443	0.85[EUR][1000 genomes]
rs7084047	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7902898	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7923293	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831848	chr10:45490176-45667670	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	esv2750897	chr10:45550145-45820136	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv947903	chr10:45598715-45657182	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45591000-45602000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:45599400-45601800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:45600000-45602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:45600600-45602000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:45600600-45602200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:45600800-45602200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:45601000-45601600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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