Variant report

Variant	rs2434312
Chromosome Location	chr5:79325578-79325579
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: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10474605	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1438735	0.86[EUR][1000 genomes]
rs1438736	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1438737	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs166270	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2059794	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2118731	0.85[EUR][1000 genomes]
rs2241825	0.86[EUR][1000 genomes]
rs2249687	0.86[EUR][1000 genomes]
rs2249794	0.86[EUR][1000 genomes]
rs2434277	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2434278	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2434302	0.83[EUR][1000 genomes]
rs2434303	0.83[EUR][1000 genomes]
rs2434304	0.82[EUR][1000 genomes]
rs2434320	0.85[EUR][1000 genomes]
rs2438649	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256442	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256445	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs364988	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs368287	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs368936	0.86[EUR][1000 genomes]
rs380747	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs382746	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs397601	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs404375	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs405112	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs407314	0.86[EUR][1000 genomes]
rs411240	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs411943	0.86[EUR][1000 genomes]
rs412379	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs426623	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs428279	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs432267	0.86[EUR][1000 genomes]
rs6861685	0.86[EUR][1000 genomes]
rs689879	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs690284	0.86[EUR][1000 genomes]
rs690325	0.85[EUR][1000 genomes]
rs692979	0.86[EUR][1000 genomes]
rs693270	0.86[EUR][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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