Variant report

Variant	rs56366269
Chromosome Location	chr5:126099408-126099409
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	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
2	chr5:126098417..126100243-chr5:126112838..126115291,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12514703	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12514978	0.81[AMR][1000 genomes]
rs12515255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12517303	0.85[AMR][1000 genomes]
rs12518228	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12518331	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520218	0.81[AMR][1000 genomes]
rs12521266	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17165351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17165359	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2230151	0.85[AMR][1000 genomes]
rs34364708	0.81[AMR][1000 genomes]
rs3749830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805737	0.81[AMR][1000 genomes]
rs3812062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699774	0.92[ASN][1000 genomes]
rs55924928	0.84[AMR][1000 genomes]
rs56052550	0.84[AMR][1000 genomes]
rs56121757	1.00[ASN][1000 genomes]
rs58103919	0.85[AMR][1000 genomes]
rs58418743	0.85[AMR][1000 genomes]
rs59395878	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60107783	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60147760	1.00[ASN][1000 genomes]
rs60818126	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61074663	0.92[ASN][1000 genomes]
rs61383192	0.85[AMR][1000 genomes]
rs72780203	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs72780207	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72780210	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72780211	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72780212	0.85[AMR][1000 genomes]
rs72780215	0.85[AMR][1000 genomes]
rs72780216	0.85[AMR][1000 genomes]
rs72780217	0.81[AMR][1000 genomes]
rs72780218	0.81[AMR][1000 genomes]
rs72780220	0.81[AMR][1000 genomes]
rs72780222	0.85[AMR][1000 genomes]
rs72798238	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798243	1.00[ASN][1000 genomes]
rs72798245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7447810	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr5:126098800-126100200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:126098800-126102200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:126099000-126100200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:126099400-126104600	Weak transcription	GM12878-XiMat	blood

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