Variant report

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1054426	0.86[JPT][hapmap]
rs10743727	0.86[JPT][hapmap]
rs10743728	0.86[JPT][hapmap]
rs10771746	0.80[ASN][1000 genomes]
rs10771747	0.86[JPT][hapmap]
rs10771748	0.86[JPT][hapmap]
rs10771750	0.86[JPT][hapmap]
rs10771752	0.85[JPT][hapmap]
rs10771754	0.86[JPT][hapmap]
rs10771755	0.82[JPT][hapmap]
rs10771764	0.85[JPT][hapmap]
rs10843799	0.86[JPT][hapmap]
rs10843809	0.85[JPT][hapmap]
rs10843810	0.85[JPT][hapmap]
rs10843811	0.86[JPT][hapmap]
rs10843812	0.86[JPT][hapmap]
rs11050984	0.81[AFR][1000 genomes]
rs11051013	0.86[JPT][hapmap]
rs11051052	0.82[JPT][hapmap]
rs12829890	0.99[ASN][1000 genomes]
rs13656	0.81[JPT][hapmap]
rs1371053	0.90[JPT][hapmap]
rs14139	0.86[JPT][hapmap]
rs1545175	0.86[JPT][hapmap]
rs2043846	0.80[JPT][hapmap]
rs2278558	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2289300	0.86[JPT][hapmap]
rs2289301	0.86[JPT][hapmap]
rs33132	0.86[JPT][hapmap]
rs3782685	0.86[JPT][hapmap]
rs3825307	0.85[JPT][hapmap]
rs3910561	0.86[JPT][hapmap]
rs3910564	0.86[JPT][hapmap]
rs4143104	0.89[JPT][hapmap]
rs4143105	0.82[JPT][hapmap]
rs6487925	0.86[JPT][hapmap]
rs6487927	0.86[JPT][hapmap]
rs6487930	0.86[JPT][hapmap]
rs6487932	0.86[JPT][hapmap]
rs7297455	0.81[JPT][hapmap]
rs7298007	0.81[JPT][hapmap]
rs7315693	0.86[JPT][hapmap]
rs7316477	0.84[JPT][hapmap]
rs7325	0.85[JPT][hapmap]
rs7326	0.86[JPT][hapmap]
rs7327	0.86[JPT][hapmap]
rs794152	0.86[JPT][hapmap]
rs7955420	0.86[JPT][hapmap]
rs7963494	0.86[JPT][hapmap]
rs7968343	0.86[JPT][hapmap]
rs7978343	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs8414	0.86[JPT][hapmap]
rs9300199	0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1258276	IPO8	cis	multi-tissue	Pritchard
rs1258276	DNAJA2	trans	cerebellum	SCAN
rs1258276	ERGIC2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30739600-30756600	Weak transcription	Pancreas	Pancrea
2	chr12:30748000-30757200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:30750200-30753600	Weak transcription	Aorta	Aorta
4	chr12:30752000-30753600	Enhancers	HSMMtube	muscle
5	chr12:30752000-30754000	Enhancers	HepG2	liver
6	chr12:30752600-30753800	Enhancers	Fetal Stomach	stomach
7	chr12:30752800-30753600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:30753000-30754400	Enhancers	Fetal Muscle Leg	muscle
9	chr12:30753200-30757400	Weak transcription	Left Ventricle	heart

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