Variant report

Variant	rs56274716
Chromosome Location	chr18:39276845-39276846
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:39260655..39263464-chr18:39276141..39278500,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs16975171	0.89[AMR][1000 genomes]
rs16975228	0.82[AMR][1000 genomes]
rs17597349	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17597578	0.82[AMR][1000 genomes]
rs17656030	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942072	1.00[ASN][1000 genomes]
rs2587614	1.00[ASN][1000 genomes]
rs2587630	1.00[ASN][1000 genomes]
rs2587631	1.00[ASN][1000 genomes]
rs2587640	1.00[ASN][1000 genomes]
rs2587641	1.00[ASN][1000 genomes]
rs2587643	1.00[ASN][1000 genomes]
rs2587644	1.00[ASN][1000 genomes]
rs2612320	1.00[ASN][1000 genomes]
rs2612321	1.00[ASN][1000 genomes]
rs2612322	1.00[ASN][1000 genomes]
rs2612337	1.00[ASN][1000 genomes]
rs2612341	1.00[ASN][1000 genomes]
rs2612345	1.00[ASN][1000 genomes]
rs2848757	1.00[ASN][1000 genomes]
rs2848769	1.00[ASN][1000 genomes]
rs34177537	1.00[ASN][1000 genomes]
rs4404160	1.00[ASN][1000 genomes]
rs55891807	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56324213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66959060	1.00[ASN][1000 genomes]
rs7238895	1.00[ASN][1000 genomes]
rs7244165	1.00[ASN][1000 genomes]
rs72892170	0.89[AMR][1000 genomes]
rs72892179	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903956	1.00[ASN][1000 genomes]
rs72903960	1.00[ASN][1000 genomes]
rs72903968	1.00[ASN][1000 genomes]
rs72903976	1.00[ASN][1000 genomes]
rs72903977	1.00[ASN][1000 genomes]
rs72903981	1.00[ASN][1000 genomes]
rs72903999	1.00[ASN][1000 genomes]
rs72905909	1.00[ASN][1000 genomes]
rs72905919	1.00[ASN][1000 genomes]
rs72905927	1.00[ASN][1000 genomes]
rs72905935	1.00[ASN][1000 genomes]
rs72905937	1.00[ASN][1000 genomes]
rs72905973	1.00[ASN][1000 genomes]
rs72905981	1.00[ASN][1000 genomes]
rs72905986	1.00[ASN][1000 genomes]
rs72905989	1.00[ASN][1000 genomes]
rs72907804	1.00[ASN][1000 genomes]
rs72907808	1.00[ASN][1000 genomes]
rs72907817	1.00[ASN][1000 genomes]
rs72907821	1.00[ASN][1000 genomes]
rs72907842	1.00[ASN][1000 genomes]
rs72907845	1.00[ASN][1000 genomes]
rs72907847	1.00[ASN][1000 genomes]
rs72907850	1.00[ASN][1000 genomes]
rs72907851	1.00[ASN][1000 genomes]
rs72907853	1.00[ASN][1000 genomes]
rs72907854	1.00[ASN][1000 genomes]
rs72907855	1.00[ASN][1000 genomes]
rs72909919	1.00[ASN][1000 genomes]
rs8098315	1.00[ASN][1000 genomes]
rs8098394	1.00[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	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' 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	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv909565	chr18:39257639-39298357	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39275800-39279800	Weak transcription	Fetal Lung	lung
2	chr18:39276200-39284200	Weak transcription	Fetal Heart	heart
3	chr18:39276800-39278000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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