Variant report

Variant	rs2449998
Chromosome Location	chr12:30730345-30730346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10843791	0.97[ASN][1000 genomes]
rs10843797	1.00[JPT][hapmap]
rs10843798	1.00[JPT][hapmap]
rs10843803	1.00[JPT][hapmap]
rs10843805	1.00[JPT][hapmap]
rs1087341	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050958	1.00[ASN][1000 genomes]
rs11051006	1.00[JPT][hapmap]
rs11051023	1.00[JPT][hapmap]
rs11051030	1.00[JPT][hapmap]
rs11051034	1.00[JPT][hapmap]
rs11051046	1.00[JPT][hapmap]
rs12308822	1.00[JPT][hapmap]
rs12315407	0.81[ASN][1000 genomes]
rs12371883	1.00[JPT][hapmap]
rs12372023	1.00[JPT][hapmap]
rs1438910	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1438911	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1682402	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1682403	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2438666	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2449995	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2449997	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2449999	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56705455	0.81[ASN][1000 genomes]
rs57153590	0.85[ASN][1000 genomes]
rs6487924	1.00[JPT][hapmap]
rs7135005	1.00[JPT][hapmap]
rs7306125	1.00[JPT][hapmap]
rs794156	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs794157	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs794159	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7955626	0.92[ASN][1000 genomes]
rs7963438	1.00[JPT][hapmap]
rs7968760	1.00[JPT][hapmap]
rs7972061	1.00[ASN][1000 genomes]
rs956503	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9651844	1.00[JPT][hapmap]

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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2449998	FLJ13224	cis	cerebellum	SCAN
rs2449998	IPO8	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30724600-30738600	Weak transcription	Pancreas	Pancrea
2	chr12:30726600-30740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:30727800-30752800	Weak transcription	Left Ventricle	heart

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