Variant report

Variant	rs13360719
Chromosome Location	chr5:112649558-112649559
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	chr4:32159312..32160248-chr5:112648833..112649616,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10077020	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428666	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10519343	0.80[AMR][1000 genomes]
rs10519346	0.80[AMR][1000 genomes]
rs1116547	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11241197	0.92[AMR][1000 genomes]
rs11241201	0.86[ASN][1000 genomes]
rs11241206	0.86[ASN][1000 genomes]
rs11738075	0.86[ASN][1000 genomes]
rs11738215	0.86[ASN][1000 genomes]
rs11741794	0.88[AMR][1000 genomes]
rs11741937	0.90[AMR][1000 genomes]
rs11746532	0.83[AMR][1000 genomes]
rs11748465	0.88[AMR][1000 genomes]
rs11748503	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11748524	0.85[AMR][1000 genomes]
rs11749864	0.84[AMR][1000 genomes]
rs12514091	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519753	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12520003	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12523027	0.92[AMR][1000 genomes]
rs12523255	0.86[ASN][1000 genomes]
rs12523284	0.88[AMR][1000 genomes]
rs1443683	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517209	0.86[ASN][1000 genomes]
rs1586943	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17135515	0.80[AMR][1000 genomes]
rs17135526	0.83[AMR][1000 genomes]
rs17135531	0.83[AMR][1000 genomes]
rs17135546	0.85[AMR][1000 genomes]
rs17135597	0.86[ASN][1000 genomes]
rs17135608	0.84[ASN][1000 genomes]
rs1838208	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845289	0.83[AMR][1000 genomes]
rs1850410	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2068923	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705814	0.86[ASN][1000 genomes]
rs4705817	0.86[ASN][1000 genomes]
rs4705818	0.84[ASN][1000 genomes]
rs4705819	0.84[ASN][1000 genomes]
rs62374372	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66728961	0.86[ASN][1000 genomes]
rs67764628	0.82[ASN][1000 genomes]
rs6864528	0.84[ASN][1000 genomes]
rs6877524	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236478	0.84[ASN][1000 genomes]
rs73246629	0.85[AMR][1000 genomes]
rs73246677	0.82[AMR][1000 genomes]
rs73246681	0.88[AMR][1000 genomes]
rs9800316	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv528805	chr5:112641650-112650751	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	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	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112649000-112649800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112649200-112655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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