Variant report

Variant	rs8040440
Chromosome Location	chr15:41841355-41841356
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	chr15:41838018..41840658-chr15:41840719..41842953,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11070335	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11636126	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11855581	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1200352	0.85[ASN][1000 genomes]
rs12442382	0.85[ASN][1000 genomes]
rs12595022	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900977	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12903050	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12906257	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12909551	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2012453	0.82[EUR][1000 genomes]
rs2297381	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28406095	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4420509	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4573907	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167667	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7179280	0.87[ASN][1000 genomes]
rs721772	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8028439	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040522	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9302110	0.89[ASN][1000 genomes]
rs9744415	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9944249	0.81[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8040440	RPAP1	cis	Artery Tibial	GTEx
rs8040440	RPAP1	cis	Esophagus Mucosa	GTEx
rs8040440	TYRO3	cis	lung	GTEx
rs8040440	RPAP1	cis	Adipose Subcutaneous	GTEx
rs8040440	LTK	cis	lung	GTEx
rs8040440	RPAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs8040440	RPAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41837200-41850000	Weak transcription	Brain Anterior Caudate	brain
2	chr15:41837200-41850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:41837400-41847000	Weak transcription	Spleen	Spleen
4	chr15:41839600-41841800	Weak transcription	Fetal Intestine Large	intestine
5	chr15:41839600-41841800	Weak transcription	Fetal Intestine Small	intestine
6	chr15:41839600-41841800	Weak transcription	HepG2	liver
7	chr15:41839600-41842000	Weak transcription	Stomach Mucosa	stomach
8	chr15:41839600-41845800	Weak transcription	K562	blood
9	chr15:41839800-41845800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:41840000-41842000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:41841000-41845800	Weak transcription	Hela-S3	cervix

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