Variant report

Variant	rs1659284
Chromosome Location	chr12:30724941-30724942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30719047..30721585-chr12:30723439..30724980,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10431223	0.96[ASN][1000 genomes]
rs1087340	0.89[AMR][1000 genomes]
rs1087342	0.89[AMR][1000 genomes]
rs1087345	0.86[AMR][1000 genomes]
rs11050959	0.84[ASN][1000 genomes]
rs11050960	0.96[ASN][1000 genomes]
rs11050961	0.80[ASN][1000 genomes]
rs11050962	0.96[ASN][1000 genomes]
rs11050963	0.93[ASN][1000 genomes]
rs11050964	0.93[ASN][1000 genomes]
rs11050965	0.93[ASN][1000 genomes]
rs11050966	0.89[ASN][1000 genomes]
rs11050967	0.86[ASN][1000 genomes]
rs11050974	0.93[ASN][1000 genomes]
rs11050975	0.93[ASN][1000 genomes]
rs11050976	0.93[ASN][1000 genomes]
rs11050978	0.93[ASN][1000 genomes]
rs11050979	0.93[ASN][1000 genomes]
rs11050980	0.89[ASN][1000 genomes]
rs11050995	0.84[ASN][1000 genomes]
rs11051014	0.90[CHB][hapmap]
rs11051031	0.90[CHB][hapmap]
rs11051032	0.90[CHB][hapmap]
rs11051036	0.90[CHB][hapmap]
rs11051039	0.90[CHB][hapmap]
rs11051040	0.90[CHB][hapmap]
rs11051064	0.90[CHB][hapmap]
rs11531057	0.82[ASN][1000 genomes]
rs11534760	0.82[ASN][1000 genomes]
rs12228212	0.96[ASN][1000 genomes]
rs12229358	0.84[ASN][1000 genomes]
rs12229986	0.90[CHB][hapmap]
rs12230490	0.83[ASN][1000 genomes]
rs1371050	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1630788	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1659286	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16906574	0.93[ASN][1000 genomes]
rs16906582	0.93[ASN][1000 genomes]
rs16906758	0.90[CHB][hapmap]
rs16916147	0.89[CHB][hapmap]
rs2450000	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3898255	1.00[ASN][1000 genomes]
rs794160	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs794161	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs794162	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7977562	1.00[CHB][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1659284	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30722200-30725600	Enhancers	Fetal Lung	lung
2	chr12:30723000-30725000	Enhancers	Fetal Stomach	stomach
3	chr12:30723600-30726800	Enhancers	Adipose Nuclei	Adipose
4	chr12:30724000-30725400	Weak transcription	Liver	Liver
5	chr12:30724600-30738600	Weak transcription	Pancreas	Pancrea
6	chr12:30724800-30726600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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