Variant report

Variant	rs718368
Chromosome Location	chr12:30871503-30871504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1054426	0.80[ASN][1000 genomes]
rs10734791	0.91[ASN][1000 genomes]
rs10743733	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743734	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10771754	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771758	0.87[ASN][1000 genomes]
rs10771759	0.91[ASN][1000 genomes]
rs10771764	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771769	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843806	0.80[ASN][1000 genomes]
rs10843807	0.80[ASN][1000 genomes]
rs10843808	0.80[ASN][1000 genomes]
rs10843809	0.80[ASN][1000 genomes]
rs10843811	0.80[ASN][1000 genomes]
rs10843812	0.80[ASN][1000 genomes]
rs11051013	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051052	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12370429	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12579337	0.80[ASN][1000 genomes]
rs13656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1371053	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1545175	0.84[ASN][1000 genomes]
rs1866416	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2099661	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289301	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2304626	0.80[ASN][1000 genomes]
rs2304630	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2352210	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2352217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33132	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3782685	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3816169	0.80[ASN][1000 genomes]
rs3825307	0.81[ASN][1000 genomes]
rs4143103	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930935	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930936	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4931356	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487927	0.81[ASN][1000 genomes]
rs6487932	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487933	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297455	0.92[ASN][1000 genomes]
rs7298007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298180	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304976	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7311651	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7315693	0.80[ASN][1000 genomes]
rs7315932	0.80[ASN][1000 genomes]
rs794152	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7955574	0.80[ASN][1000 genomes]
rs7963494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968343	0.80[ASN][1000 genomes]
rs7968587	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7978343	0.80[ASN][1000 genomes]
rs7978936	0.80[ASN][1000 genomes]
rs9300199	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs718368	IPO8	cis	multi-tissue	Pritchard
rs718368	IPO8	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
3	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
4	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
6	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
8	chr12:30859800-30877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:30861000-30879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:30861200-30875000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:30861400-30872600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:30861400-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
17	chr12:30861800-30872000	Strong transcription	HSMM	muscle
18	chr12:30861800-30872600	Strong transcription	Fetal Brain Female	brain
19	chr12:30861800-30872800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:30861800-30877800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:30861800-30879000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:30861800-30884600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:30862000-30871800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:30862000-30872200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:30862000-30872600	Strong transcription	Liver	Liver
28	chr12:30862000-30877800	Strong transcription	HMEC	breast
29	chr12:30862000-30878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:30862000-30879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:30862200-30872200	Strong transcription	Brain Anterior Caudate	brain
32	chr12:30862200-30879000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:30862400-30872000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr12:30862400-30872400	Strong transcription	Primary T cells from cord blood	blood
36	chr12:30862400-30876600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:30862600-30872400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:30862600-30872400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:30862800-30872400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:30862800-30872400	Strong transcription	Left Ventricle	heart
42	chr12:30863400-30872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:30863400-30872200	Weak transcription	Thymus	Thymus
44	chr12:30863400-30874000	Weak transcription	Fetal Stomach	stomach
45	chr12:30863400-30877200	Weak transcription	Pancreas	Pancrea
46	chr12:30863400-30877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:30863400-30881600	Weak transcription	Gastric	stomach
48	chr12:30863400-30882800	Weak transcription	Brain Substantia Nigra	brain
49	chr12:30863400-30885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood

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