Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:120793772..120796303-chr12:120865942..120868774,2	MCF-7	breast:
2	chr12:120794499..120796527-chr12:120866923..120868493,2	K562	blood:
3	chr12:120853440..120856255-chr12:120866647..120868589,2	MCF-7	breast:
4	chr12:120728593..120731429-chr12:120866852..120869829,2	K562	blood:
5	chr12:120861900..120864881-chr12:120867409..120869644,2	K562	blood:
6	chr12:120761708..120763403-chr12:120867083..120868587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1048830	0.84[ASN][1000 genomes]
rs1050187	0.82[ASN][1000 genomes]
rs10744752	0.80[ASN][1000 genomes]
rs10774549	0.82[ASN][1000 genomes]
rs10849749	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849753	0.82[ASN][1000 genomes]
rs11065120	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11065132	0.82[ASN][1000 genomes]
rs12229097	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2138251	0.80[ASN][1000 genomes]
rs2235217	0.84[ASN][1000 genomes]
rs2235218	0.85[ASN][1000 genomes]
rs2393590	0.82[ASN][1000 genomes]
rs34285891	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3893104	0.82[ASN][1000 genomes]
rs4767902	0.82[ASN][1000 genomes]
rs57943218	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61945857	0.81[ASN][1000 genomes]
rs7132474	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308053	0.85[ASN][1000 genomes]
rs7970933	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9040	0.80[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs73221357	COQ5	cis	Muscle Skeletal	GTEx
rs73221357	COQ5	cis	lung	GTEx
rs73221357	COQ5	cis	Artery Tibial	GTEx
rs73221357	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs73221357	COQ5	cis	Esophagus Muscularis	GTEx
rs73221357	COQ5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
2	chr12:120852400-120875200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:120866400-120868400	Enhancers	Fetal Intestine Large	intestine
4	chr12:120866400-120868400	Enhancers	Fetal Intestine Small	intestine
5	chr12:120866600-120868000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120867200-120875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:120867600-120868200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:120867600-120868400	Weak transcription	A549	lung
9	chr12:120867600-120875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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