Variant report

Variant	rs493713
Chromosome Location	chr8:60882999-60883000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1497032	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2037561	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2622526	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2688656	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2688659	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs472799	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4737551	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs475714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs488934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490409	0.87[ASN][1000 genomes]
rs497312	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs507158	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs510005	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs519500	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs522182	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs526249	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs533776	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs544344	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs544416	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs548902	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs549730	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs574368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574929	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs594035	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs595819	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs598457	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs601224	0.84[ASN][1000 genomes]
rs606131	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs627807	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs642072	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6471843	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471844	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs648946	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs659506	0.82[EUR][1000 genomes]
rs666087	0.82[EUR][1000 genomes]
rs668563	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs671655	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs674292	0.86[ASN][1000 genomes]
rs700726	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7832367	0.85[EUR][1000 genomes]
rs7845735	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831331	chr8:60770382-60959633	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs493713	LOC643763	cis	parietal	SCAN
rs493713	MEGF6	trans	brain	seeQTL
rs493713	MAPK1	trans	brain	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60871600-60884800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:60881200-60883400	Weak transcription	Ovary	ovary
3	chr8:60881800-60883600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:60882200-60883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:60882200-60883600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:60882200-60885000	Weak transcription	Dnd41	blood
7	chr8:60882400-60883400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:60882400-60883400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:60882400-60884600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:60882400-60885200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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