Variant report

Variant	rs7974251
Chromosome Location	chr12:30772129-30772130
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10743725	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771749	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843794	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843797	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10843798	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10843801	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843803	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs10843805	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11051009	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11051014	0.82[JPT][hapmap]
rs11051023	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11051026	0.83[EUR][1000 genomes]
rs11051030	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11051031	0.82[JPT][hapmap]
rs11051032	0.82[JPT][hapmap]
rs11051034	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11051036	0.82[JPT][hapmap]
rs11051039	0.82[JPT][hapmap]
rs11051044	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11051046	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs11051064	0.82[JPT][hapmap]
rs11613738	0.82[JPT][hapmap]
rs12308822	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12315407	0.81[AMR][1000 genomes]
rs12315446	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12371883	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12372023	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16906758	0.82[JPT][hapmap]
rs16916147	0.82[JPT][hapmap]
rs3888018	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906774	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56705455	0.81[AMR][1000 genomes]
rs6487924	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs6487929	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6487931	1.00[CEU][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7135005	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7302606	0.89[EUR][1000 genomes]
rs7302757	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7303665	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7306125	0.94[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7307432	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7308638	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7310127	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73289265	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73292874	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74083892	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7963438	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7968760	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7977562	0.82[JPT][hapmap]
rs9651844	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[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	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
rs7974251	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30780800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
4	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30767600-30780800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:30767600-30780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:30770600-30775600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:30770600-30783400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:30770800-30783200	Weak transcription	Fetal Stomach	stomach
10	chr12:30771000-30781600	Weak transcription	Fetal Brain Female	brain
11	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
12	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
13	chr12:30771400-30781200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:30771400-30783000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:30771400-30783000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:30771400-30783000	Weak transcription	HSMMtube	muscle
17	chr12:30771600-30775000	Weak transcription	HepG2	liver

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