Variant report

Variant	rs12228471
Chromosome Location	chr12:68421622-68421623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10878723	0.95[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10878726	0.88[ASN][1000 genomes]
rs11177002	0.95[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11177007	0.81[ASN][1000 genomes]
rs11177008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12582272	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1468487	0.88[EUR][1000 genomes]
rs17104682	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2051993	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2860609	0.88[EUR][1000 genomes]
rs2870960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2906854	0.87[EUR][1000 genomes]
rs2906859	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs3015001	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs56393928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	0.95[CEU][hapmap];0.83[JPT][hapmap];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
rs12228471	IFNG-AS1	cis	Whole Blood	GTEx
rs12228471	IFNG-AS1	cis	Muscle Skeletal	GTEx
rs12228471	IFNG-AS1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68398400-68422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:68406000-68425200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:68406400-68426000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:68416200-68425400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:68416800-68426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:68421000-68422000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:68421000-68422000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:68421600-68423200	Strong transcription	Primary B cells from cord blood	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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