Variant report

Variant	rs7306466
Chromosome Location	chr12:68408722-68408723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68408599..68411487-chr12:68423337..68425376,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1019076	0.82[EUR][1000 genomes]
rs10878723	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11177002	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11177008	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12228471	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12582272	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1468487	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104682	0.95[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2051993	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2860609	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2870960	0.95[CEU][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2906854	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2906856	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2906859	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2906862	0.83[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3015001	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3015002	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56393928	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61923060	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7962511	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	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
rs7306466	IFNG-AS1	cis	Artery Tibial	GTEx
rs7306466	IFNG-AS1	cis	Whole Blood	GTEx
rs7306466	IFNG-AS1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68392600-68413800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:68398400-68422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:68406000-68425200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:68406200-68411800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:68406200-68413800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:68406400-68426000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:68407200-68408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:68407400-68409000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:68407600-68413400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:68407800-68410000	Weak transcription	Primary B cells from peripheral blood	blood

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