Variant report

Variant	rs2438606
Chromosome Location	chr5:79325051-79325052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79313494..79316436-chr5:79324403..79326793,2	K562	blood:

Variant related genes	Relation type
ENSG00000251050	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs194375	0.87[EUR][1000 genomes]
rs2434270	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2434272	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2434273	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2434274	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2434275	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2434309	0.88[EUR][1000 genomes]
rs2434310	0.88[EUR][1000 genomes]
rs2434311	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2434313	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2434314	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2434315	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2434318	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2434319	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2438604	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2438605	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2438607	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2438609	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2438610	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2438611	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2438612	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2438613	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2438614	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2438617	0.88[EUR][1000 genomes]
rs2438618	0.88[EUR][1000 genomes]
rs2438650	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2438651	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2451933	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2451940	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs256440	0.87[EUR][1000 genomes]
rs256441	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256444	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256446	0.87[EUR][1000 genomes]
rs256447	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256448	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256450	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs256451	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs366471	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs366553	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs385771	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs391521	0.87[EUR][1000 genomes]
rs398774	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6874832	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882219	chr5:79320677-79354147	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882220	chr5:79321439-79335975	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882221	chr5:79321439-79350726	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882222	chr5:79321439-79354147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79324400-79326400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:79324400-79326600	Weak transcription	Dnd41	blood
3	chr5:79324400-79326800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:79324400-79326800	Weak transcription	Fetal Thymus	thymus

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