Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:68418033..68421455-chr12:68421657..68425244,3	K562	blood:
2	chr12:68408599..68411487-chr12:68423337..68425376,2	K562	blood:
3	chr12:68421607..68423801-chr12:68633232..68635841,2	K562	blood:
4	chr12:68421640..68425307-chr12:68426070..68430242,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236946	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10878723	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10878726	0.82[ASN][1000 genomes]
rs11177002	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11177006	0.85[ASN][1000 genomes]
rs11177007	0.87[ASN][1000 genomes]
rs11177008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12228471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12582272	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1468487	0.88[EUR][1000 genomes]
rs17104682	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2051993	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2860609	0.88[EUR][1000 genomes]
rs2870960	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2906854	0.87[EUR][1000 genomes]
rs2906859	0.88[EUR][1000 genomes]
rs3015001	0.86[EUR][1000 genomes]
rs61923060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7306466	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7952790	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7962511	0.86[AMR][1000 genomes];0.89[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs56393928	IFNG-AS1	cis	Whole Blood	GTEx
rs56393928	IFNG-AS1	cis	Muscle Skeletal	GTEx
rs56393928	IFNG-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68406000-68425200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:68406400-68426000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:68416200-68425400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:68416800-68426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:68422000-68425400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:68422600-68425200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:68422600-68449000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:68423200-68429400	Weak transcription	Primary B cells from cord blood	blood

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