Variant report

Variant	rs4082413
Chromosome Location	chr12:30783184-30783185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30776811..30779665-chr12:30781833..30784951,3	K562	blood:
2	chr12:29503193..29506083-chr12:30783016..30785826,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10219701	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10444423	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1054426	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10734790	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10734791	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10743724	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10743726	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10743727	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10743728	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10743729	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10771747	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771748	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771750	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771751	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771752	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10771753	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10771754	1.00[YRI][hapmap]
rs10771755	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10771758	0.88[EUR][1000 genomes]
rs10771759	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771764	0.85[YRI][hapmap]
rs10771768	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10843795	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10843796	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10843799	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10843800	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10843802	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10843804	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843806	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843807	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843808	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10843809	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843810	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843811	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843812	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843814	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843816	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10843817	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10843822	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10843824	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10843833	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10843835	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11051005	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11051013	1.00[YRI][hapmap]
rs11051050	0.90[JPT][hapmap]
rs11051053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11051061	0.90[JPT][hapmap]
rs11834524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12146709	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12303852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12368765	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12370947	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12579337	0.92[EUR][1000 genomes]
rs12809335	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12830910	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs13656	0.86[YRI][hapmap]
rs1371053	0.91[YRI][hapmap]
rs14139	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1545175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2043844	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2043845	0.83[EUR][1000 genomes]
rs2043846	0.91[EUR][1000 genomes]
rs2241828	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2289300	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289301	1.00[YRI][hapmap]
rs2289302	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2304626	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2304630	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2352210	0.81[AFR][1000 genomes]
rs28661513	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35059863	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3782685	1.00[YRI][hapmap]
rs3816169	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3825307	0.92[EUR][1000 genomes]
rs3850960	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3850961	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3862399	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3862400	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3898406	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3910561	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3910562	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3910563	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3910564	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4143103	0.81[AFR][1000 genomes]
rs4143104	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4143105	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4143106	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4931356	0.81[AFR][1000 genomes]
rs60452057	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6487923	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6487925	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6487927	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6487930	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6487932	1.00[YRI][hapmap]
rs6487933	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs6487939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7132317	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7296614	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7297455	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7298007	0.95[YRI][hapmap]
rs7299444	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300234	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7303626	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7304221	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7305853	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7310816	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7310838	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7310875	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311215	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7313517	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7315693	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7315932	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7316477	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7316896	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7325	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7326	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7327	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7952744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7955420	1.00[CEU][hapmap]
rs7955574	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7957141	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7963494	0.91[YRI][hapmap]
rs7968343	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7970643	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7971762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7971870	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7972532	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978343	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7978616	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7978936	0.91[EUR][1000 genomes]
rs7980510	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs8414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9300199	0.86[YRI][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
rs4082413	IPO8	cis	Artery Tibial	GTEx
rs4082413	IPO8	cis	Skin Sun Exposed Lower leg	GTEx
rs4082413	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
3	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:30770600-30783400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:30770800-30783200	Weak transcription	Fetal Stomach	stomach
6	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
7	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
8	chr12:30772800-30783400	Weak transcription	A549	lung
9	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:30775200-30783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
12	chr12:30775800-30784800	Weak transcription	GM12878-XiMat	blood
13	chr12:30775800-30813200	Weak transcription	HMEC	breast
14	chr12:30775800-30815200	Weak transcription	NHEK	skin
15	chr12:30776000-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:30776200-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:30776800-30783200	Weak transcription	Ovary	ovary
19	chr12:30776800-30791000	Weak transcription	Psoas Muscle	Psoas
20	chr12:30777200-30783200	Weak transcription	Lung	lung
21	chr12:30777200-30783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:30778000-30786400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:30779400-30796400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:30780200-30795000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:30780400-30796200	Weak transcription	Hela-S3	cervix
28	chr12:30780600-30785800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:30780600-30788400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:30780800-30783600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:30780800-30784800	Strong transcription	Osteobl	bone
32	chr12:30780800-30786000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:30780800-30786000	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:30780800-30786200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:30780800-30792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:30780800-30793000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:30780800-30793000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:30780800-30793200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:30780800-30793200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:30781000-30787200	Strong transcription	Fetal Intestine Large	intestine
42	chr12:30781000-30792800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:30781000-30792800	Strong transcription	Primary T cells from cord blood	blood
44	chr12:30781000-30793000	Strong transcription	Liver	Liver
45	chr12:30781200-30783200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:30781200-30783800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:30781200-30784800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:30781200-30785200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:30781200-30786000	Strong transcription	Left Ventricle	heart
50	chr12:30781200-30786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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