Variant report

Variant	rs1893523
Chromosome Location	chr18:43481075-43481076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10432160	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs10432197	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1055066	1.00[CEU][hapmap]
rs10853537	1.00[CEU][hapmap]
rs11082490	1.00[CEU][hapmap]
rs11082497	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082498	0.86[ASN][1000 genomes]
rs11082499	0.91[ASN][1000 genomes]
rs11082501	0.84[ASN][1000 genomes]
rs11661333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665273	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232683	0.87[ASN][1000 genomes]
rs12454420	0.84[ASN][1000 genomes]
rs12458195	1.00[CEU][hapmap]
rs12604430	0.86[ASN][1000 genomes]
rs12604492	0.87[ASN][1000 genomes]
rs12604880	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12953791	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12954728	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs1573404	0.83[ASN][1000 genomes]
rs1573405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1660561	0.87[CEU][hapmap]
rs1790299	0.87[CEU][hapmap]
rs2004084	0.85[ASN][1000 genomes]
rs2004085	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28430300	0.84[ASN][1000 genomes]
rs28729696	0.91[ASN][1000 genomes]
rs34775986	0.90[ASN][1000 genomes]
rs3744996	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3745000	0.80[ASN][1000 genomes]
rs3826634	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629066	0.85[ASN][1000 genomes]
rs492411	0.87[CEU][hapmap]
rs500899	0.87[CEU][hapmap]
rs507653	0.87[CEU][hapmap];0.80[GIH][hapmap]
rs570975	0.87[CEU][hapmap]
rs571690	0.87[CEU][hapmap]
rs57484487	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58306126	0.87[ASN][1000 genomes]
rs58312765	0.84[ASN][1000 genomes]
rs59884993	0.84[ASN][1000 genomes]
rs60288752	0.89[ASN][1000 genomes]
rs60866799	0.83[ASN][1000 genomes]
rs61363974	0.87[ASN][1000 genomes]
rs61680317	0.81[ASN][1000 genomes]
rs6507648	0.92[ASN][1000 genomes]
rs6507652	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7233909	1.00[CEU][hapmap]
rs7234750	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7235022	0.91[ASN][1000 genomes]
rs7235629	0.83[ASN][1000 genomes]
rs7238229	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73953913	0.91[ASN][1000 genomes]
rs73953914	0.91[ASN][1000 genomes]
rs8085782	1.00[CEU][hapmap]
rs8086343	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087546	0.83[ASN][1000 genomes]
rs8088080	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8091448	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8093119	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs8094023	0.92[ASN][1000 genomes]
rs8097415	0.87[ASN][1000 genomes]
rs8097963	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098012	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8098175	0.82[ASN][1000 genomes]
rs8099496	1.00[CEU][hapmap]
rs9946797	0.91[ASN][1000 genomes]
rs9946933	0.91[ASN][1000 genomes]
rs9947914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9948988	0.87[ASN][1000 genomes]
rs9955285	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9955829	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9957288	0.89[ASN][1000 genomes]
rs9958844	0.86[ASN][1000 genomes]
rs9959763	0.83[ASN][1000 genomes]
rs9959893	0.86[ASN][1000 genomes]
rs9960220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962353	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9963463	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9964996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9965433	0.91[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	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1893523	KIAA1632	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
3	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:43445800-43483800	Weak transcription	K562	blood
5	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:43460800-43500200	Strong transcription	Osteobl	bone
12	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:43462200-43492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43466400-43498400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:43469400-43487600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:43469800-43519000	Weak transcription	A549	lung
17	chr18:43471000-43506400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:43471800-43500200	Strong transcription	Adipose Nuclei	Adipose
19	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr18:43472600-43498600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr18:43473000-43485800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:43473000-43505800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr18:43473600-43481600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:43474000-43505200	Strong transcription	NHLF	lung
26	chr18:43474400-43484200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:43474400-43490800	Strong transcription	Fetal Intestine Large	intestine
28	chr18:43474400-43500000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr18:43474600-43498200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr18:43474600-43511000	Strong transcription	Primary B cells from cord blood	blood
31	chr18:43474600-43511200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr18:43474800-43488000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:43474800-43511200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr18:43475200-43490800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
36	chr18:43475400-43481200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:43475400-43500600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:43476200-43482400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:43476200-43498000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr18:43476400-43497800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:43476800-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:43477000-43482400	Strong transcription	Left Ventricle	heart
44	chr18:43477000-43485000	Strong transcription	HSMM	muscle
45	chr18:43477000-43500000	Strong transcription	NHDF-Ad	bronchial
46	chr18:43477200-43490800	Strong transcription	NH-A	brain
47	chr18:43477400-43498200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:43477400-43498800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr18:43477600-43481600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:43477600-43484400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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