Variant report

Variant	rs72633989
Chromosome Location	chr5:75017433-75017434
allele	C/T
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	ATF3	chr5:75017407-75017825	K562	blood:	n/a	n/a
2	JUND	chr5:75017386-75017806	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:75011834..75014480-chr5:75016534..75018144,2	MCF-7	breast:
2	chr5:75008837..75011583-chr5:75016834..75018987,2	K562	blood:
3	chr5:75012127..75015075-chr5:75015855..75021206,8	K562	blood:

Variant related genes	Relation type
POC5	TF binding region
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10515213	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12109251	0.83[EUR][1000 genomes]
rs12109685	0.83[EUR][1000 genomes]
rs168807	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563589	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563610	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17563700	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563877	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563974	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563995	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17649248	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17649266	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17649332	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17649350	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17649362	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2307112	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2307115	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253387	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34356	0.86[EUR][1000 genomes]
rs3797581	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4703676	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704233	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4704235	0.83[EUR][1000 genomes]
rs58255973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58968428	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72633981	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72633982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72633983	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72633984	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72633985	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72633986	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72633987	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633988	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72633990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7380748	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs888788	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72633989	POC5	cis	Thyroid	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75013400-75024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:75013800-75018800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:75015600-75017600	Enhancers	HepG2	liver
4	chr5:75016400-75017600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:75017200-75017800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:75017200-75017800	Enhancers	K562	blood

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