Variant report

Variant	rs1055066
Chromosome Location	chr18:43427623-43427624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10853537	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11082490	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11082491	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11082492	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11082493	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11661333	1.00[CEU][hapmap]
rs12455488	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12456289	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12458195	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12604912	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1371976	1.00[CEU][hapmap]
rs1660561	0.87[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790299	0.87[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893523	1.00[CEU][hapmap]
rs2919643	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2958437	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34185907	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35316177	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs492411	0.87[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs500899	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs507653	0.87[CEU][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs570975	0.87[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs571690	0.87[CEU][hapmap];0.87[CHD][hapmap]
rs61104666	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7233909	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8083287	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8085782	1.00[CEU][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8095439	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8099496	1.00[CEU][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9950673	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9958081	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1055066	PIAS2	cis	cerebellum	SCAN
rs1055066	KIAA1632	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43418400-43439000	Weak transcription	A549	lung
2	chr18:43418600-43437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43419000-43429800	Weak transcription	Aorta	Aorta
4	chr18:43419200-43434000	Weak transcription	Small Intestine	intestine
5	chr18:43419400-43429600	Weak transcription	Right Ventricle	heart
6	chr18:43419600-43428000	Weak transcription	Primary T cells from cord blood	blood
7	chr18:43419600-43428200	Weak transcription	Pancreas	Pancrea
8	chr18:43419600-43429400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr18:43419600-43429600	Weak transcription	Gastric	stomach
10	chr18:43419600-43429800	Weak transcription	Left Ventricle	heart
11	chr18:43419800-43431400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:43420000-43428200	Weak transcription	NHLF	lung
13	chr18:43420000-43428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:43420000-43429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:43420000-43429200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr18:43420000-43429400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:43420000-43432400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:43420000-43436200	Weak transcription	Hela-S3	cervix
19	chr18:43420200-43429600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr18:43420200-43431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:43420600-43428000	Weak transcription	NHEK	skin
23	chr18:43420600-43429200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:43420600-43429200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:43420600-43429200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:43420600-43429200	Weak transcription	HSMM	muscle
27	chr18:43420600-43429400	Weak transcription	NHDF-Ad	bronchial
28	chr18:43420800-43427800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr18:43420800-43428000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:43420800-43429200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:43420800-43429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:43420800-43429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:43420800-43435400	Weak transcription	HMEC	breast
34	chr18:43420800-43442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:43421000-43429000	Weak transcription	Brain Germinal Matrix	brain
36	chr18:43421200-43429200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:43421200-43429600	Weak transcription	Brain Substantia Nigra	brain
38	chr18:43421200-43431200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:43421400-43429400	Weak transcription	HSMMtube	muscle
40	chr18:43421600-43429200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:43422000-43428200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr18:43422000-43429200	Weak transcription	Fetal Brain Female	brain
43	chr18:43422200-43428400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr18:43422600-43432400	Weak transcription	Fetal Kidney	kidney
45	chr18:43422800-43429200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr18:43422800-43429600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:43423000-43429600	Weak transcription	Fetal Lung	lung
48	chr18:43423000-43429800	Weak transcription	Primary B cells from cord blood	blood
49	chr18:43423200-43428200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:43423200-43429200	Weak transcription	Liver	Liver

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