Variant report

Variant	rs73414913
Chromosome Location	chr15:52824470-52824471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr15:52824377-52824483	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52822627..52825324-chr15:52833612..52835175,2	K562	blood:
2	chr15:52820217..52824623-chr15:52859000..52863588,7	MCF-7	breast:
3	chr15:52785155..52787650-chr15:52822285..52825077,2	MCF-7	breast:

Variant related genes	Relation type
MYO5A	TF binding region
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13329087	1.00[AMR][1000 genomes]
rs1693516	1.00[ASN][1000 genomes]
rs1693517	1.00[ASN][1000 genomes]
rs1693519	1.00[ASN][1000 genomes]
rs1724599	1.00[ASN][1000 genomes]
rs1724600	1.00[ASN][1000 genomes]
rs1724602	1.00[ASN][1000 genomes]
rs28401713	1.00[EUR][1000 genomes]
rs28417825	1.00[ASN][1000 genomes]
rs28485735	1.00[EUR][1000 genomes]
rs28510975	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28556791	1.00[ASN][1000 genomes]
rs28578651	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28589619	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642806	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28648824	1.00[AMR][1000 genomes]
rs28656089	1.00[AMR][1000 genomes]
rs28701803	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28711556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28761013	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28786736	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28787300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28795685	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28814321	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28863588	1.00[AMR][1000 genomes]
rs3764226	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52822200-52839600	Weak transcription	Right Atrium	heart
2	chr15:52822600-52827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:52822800-52838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:52824400-52824800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:52824400-52825400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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