Variant report

Variant	rs72614670
Chromosome Location	chr8:55045321-55045322
allele	A/C
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	KAP1	chr8:55045292-55045590	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:55042895..55045520-chr8:55046912..55048671,2	MCF-7	breast:
2	chr8:55040333..55042140-chr8:55044755..55047552,2	K562	blood:

Variant related genes	Relation type
MRPL15	TF binding region
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10216491	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039926	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10504161	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958396	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10958397	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11984645	0.84[ASN][1000 genomes]
rs11984672	0.84[ASN][1000 genomes]
rs11991952	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11993959	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994629	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996128	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12114043	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12114739	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12674895	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12679103	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679542	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13276927	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13277185	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16919782	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16919784	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1828835	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2008122	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271567	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292589	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292590	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2375696	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28573859	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34168614	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34997387	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737479	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4737485	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737486	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737487	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4737488	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4738678	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57872947	0.81[EUR][1000 genomes]
rs58387069	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58419852	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58948369	0.93[EUR][1000 genomes]
rs60183530	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61213253	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61271559	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61477279	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6473909	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6473911	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6473913	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6473914	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6473915	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983694	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011379	0.81[EUR][1000 genomes]
rs7011430	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7012031	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71517558	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72614666	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614667	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614668	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830051	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842911	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952194	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981638	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55042000-55047000	Weak transcription	Placenta	Placenta
2	chr8:55044200-55046800	Weak transcription	HepG2	liver

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