Variant report

Variant	rs2051993
Chromosome Location	chr12:68413678-68413679
allele	A/G
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];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10878726	1.00[ASN][1000 genomes]
rs11177002	0.95[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11177008	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12228471	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582272	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1468487	0.92[EUR][1000 genomes]
rs17104682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2860609	0.92[EUR][1000 genomes]
rs2870960	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2906854	0.92[EUR][1000 genomes]
rs2906859	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs3015001	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs3015002	0.81[EUR][1000 genomes]
rs56393928	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61923060	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7306466	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7952790	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7962511	0.95[CEU][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.93[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
rs2051993	IFNG-AS1	cis	Whole Blood	GTEx
rs2051993	IFNG-AS1	cis	Artery Tibial	GTEx
rs2051993	IFNG-AS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:9 , 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	chr12:68406200-68413800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:68406400-68426000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:68410800-68416200	Weak transcription	Psoas Muscle	Psoas
7	chr12:68411400-68418600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:68413400-68416200	Strong transcription	Primary B cells from cord blood	blood
9	chr12:68413400-68417000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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