Variant report

Variant	rs60048216
Chromosome Location	chr13:87854719-87854720
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11618967	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951130	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951137	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56204352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56402506	1.00[ASN][1000 genomes]
rs56723125	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57386857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58658894	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58716013	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59760565	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60032361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60617913	1.00[EUR][1000 genomes]
rs60680591	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60842880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61192808	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61579481	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73560623	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562438	1.00[ASN][1000 genomes]
rs73562440	1.00[ASN][1000 genomes]
rs73562442	1.00[ASN][1000 genomes]
rs73565478	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73566067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73567603	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103206	0.87[EUR][1000 genomes]
rs74103209	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103211	0.96[EUR][1000 genomes]
rs74103212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103290	0.82[AFR][1000 genomes]
rs74103295	1.00[EUR][1000 genomes]
rs74103296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74103302	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74105610	1.00[ASN][1000 genomes]
rs74105957	1.00[ASN][1000 genomes]
rs74105959	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv562621	chr13:87192747-87927450	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045687	chr13:87822969-88114685	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv541860	chr13:87822969-88114685	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv930999	chr13:87831662-88143592	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1047914	chr13:87835419-87909531	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1043448	chr13:87835419-88140970	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv517795	chr13:87836852-87893390	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3365319	chr13:87851951-87856849	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87848400-87859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:87854400-87858400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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