Variant report

Variant	rs9368443
Chromosome Location	chr6:26610426-26610427
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26609807..26612099-chr6:27094716..27096444,2	K562	blood:
2	chr6:26609168..26610844-chr6:27103437..27105615,2	K562	blood:
3	chr6:26606677..26610844-chr6:27101596..27105615,4	K562	blood:
4	chr6:26586018..26588983-chr6:26608710..26610961,2	K562	blood:
5	chr6:26606147..26610577-chr6:26986450..26989237,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224843	Chromatin interaction
ENSG00000238621	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11967852	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195210	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13208916	0.89[ASN][1000 genomes]
rs13210025	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13215020	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28360517	0.89[ASN][1000 genomes]
rs3999471	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4634439	0.89[ASN][1000 genomes]
rs6936555	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6936561	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7740197	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7759969	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9295702	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348726	0.89[ASN][1000 genomes]
rs9348728	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368445	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368447	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368448	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368450	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368451	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9379893	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379895	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379897	0.89[ASN][1000 genomes]
rs9379899	0.89[ASN][1000 genomes]
rs9379901	0.89[ASN][1000 genomes]
rs9379905	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9379907	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9393737	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393739	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9368443	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs9368443	BTN2A1	Cis_1M	lymphoblastoid	RTeQTL
rs9368443	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs9368443	BTN3A2	cis	lung	GTEx
rs9368443	BTN3A2	cis	Whole Blood	GTEx
rs9368443	BTN3A2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26600000-26614000	Weak transcription	Spleen	Spleen
2	chr6:26608200-26611600	Weak transcription	K562	blood
3	chr6:26608200-26613800	Weak transcription	Right Atrium	heart
4	chr6:26608400-26613600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:26608600-26613800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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