Variant report

Variant	rs36074842
Chromosome Location	chr12:30811992-30811993
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	chr12:30810079..30812604-chr12:30812931..30814922,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10444423	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743729	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771745	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10771756	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771757	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771762	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843804	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843813	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843814	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843815	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843816	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843817	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10843834	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051005	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051008	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051010	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051027	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051048	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051050	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12146709	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12369125	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12370947	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12579616	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12580645	0.82[AMR][1000 genomes]
rs12581001	0.82[AMR][1000 genomes]
rs12809335	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12809355	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12825440	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826615	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12830910	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241828	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278558	0.84[EUR][1000 genomes]
rs2289302	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34973510	0.82[AMR][1000 genomes]
rs35133495	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4335626	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59177896	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61923728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6487928	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311530	0.82[AMR][1000 genomes]
rs7314823	0.82[AMR][1000 genomes]
rs7955804	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966063	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979718	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980510	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv515645	chr12:30810826-30812828	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36074842	IPO8	cis	Artery Tibial	GTEx
rs36074842	IPO8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
5	chr12:30775800-30813200	Weak transcription	HMEC	breast
6	chr12:30775800-30815200	Weak transcription	NHEK	skin
7	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
13	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
15	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
17	chr12:30785000-30847800	Weak transcription	Gastric	stomach
18	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
19	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:30785800-30813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:30786000-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
23	chr12:30787200-30813000	Weak transcription	Ovary	ovary
24	chr12:30787200-30813400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
27	chr12:30790000-30813000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:30790200-30812200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:30790200-30813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:30790400-30813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:30791200-30815600	Weak transcription	Fetal Brain Female	brain
32	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:30792000-30813200	Weak transcription	Psoas Muscle	Psoas
34	chr12:30792800-30812200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:30792800-30812200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:30793000-30812200	Weak transcription	Left Ventricle	heart
37	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:30794200-30813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:30796400-30812000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:30796800-30812800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:30796800-30816000	Weak transcription	NHLF	lung
42	chr12:30797000-30815200	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:30797200-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:30798200-30812000	Weak transcription	Fetal Intestine Small	intestine
45	chr12:30798400-30812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:30798400-30813200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:30798600-30814800	Weak transcription	HepG2	liver
48	chr12:30799200-30813200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:30801400-30815600	Weak transcription	Brain Germinal Matrix	brain
50	chr12:30802400-30812000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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