Variant report

Variant	rs62378258
Chromosome Location	chr5:116767204-116767205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13164296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13164536	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13165072	0.98[EUR][1000 genomes]
rs13175962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13176313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13176472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13176885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13177703	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13180710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13180714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13184765	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1366184	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141699	0.86[AMR][1000 genomes]
rs17141717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17398971	0.88[EUR][1000 genomes]
rs17839480	0.84[EUR][1000 genomes]
rs1820667	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34360904	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34374339	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35183133	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35515870	0.84[EUR][1000 genomes]
rs35753719	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55788310	1.00[EUR][1000 genomes]
rs55912291	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62378254	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62378255	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62378256	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62378257	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62380061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66497971	1.00[EUR][1000 genomes]
rs67546109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861435	1.00[EUR][1000 genomes]
rs6887390	1.00[EUR][1000 genomes]
rs962006	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962007	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830457	chr5:116724777-116875060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599487	chr5:116732456-116772093	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116766600-116767400	Enhancers	Colon Smooth Muscle	Colon
2	chr5:116766600-116767400	Enhancers	Rectal Smooth Muscle	rectum
3	chr5:116766800-116767400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:116766800-116769600	Weak transcription	Stomach Smooth Muscle	stomach

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