Variant report

Variant	rs7248416
Chromosome Location	chr19:39534708-39534709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10426382	0.91[EUR][1000 genomes]
rs12151095	0.93[EUR][1000 genomes]
rs12151101	0.87[EUR][1000 genomes]
rs12151263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772809	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55773274	0.84[AMR][1000 genomes]
rs55785583	0.80[AMR][1000 genomes]
rs55854060	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873651	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55894804	0.87[EUR][1000 genomes]
rs55919402	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55966336	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063522	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166490	0.83[AMR][1000 genomes]
rs56405021	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248895	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032408	0.80[AMR][1000 genomes]
rs73032437	0.80[AMR][1000 genomes]
rs73047948	0.88[AMR][1000 genomes]
rs73047959	0.80[AMR][1000 genomes]
rs73049875	0.80[AMR][1000 genomes]
rs73049881	0.80[AMR][1000 genomes]
rs8102539	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105813	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8107766	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107781	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108019	0.92[AMR][1000 genomes];0.87[EUR][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	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2760517	chr19:39530012-39544234	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv526711	chr19:39533754-39538592	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv458570	chr19:39533754-39538592	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv579507	chr19:39533754-39538592	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7248416	FBXO27	cis	Esophagus Mucosa	GTEx
rs7248416	CTB-189B5.3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39523400-39535400	Weak transcription	Right Atrium	heart
2	chr19:39530800-39543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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