Variant report

Variant	rs12604492
Chromosome Location	chr18:43520214-43520215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10432160	0.93[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10432197	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs11082497	0.87[ASN][1000 genomes]
rs11082498	0.87[ASN][1000 genomes]
rs11082499	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11082501	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11661333	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11665273	0.87[ASN][1000 genomes]
rs12232683	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454420	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12604430	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12604880	0.87[ASN][1000 genomes]
rs12953791	0.87[ASN][1000 genomes]
rs12954728	0.87[ASN][1000 genomes]
rs1371976	0.87[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1573404	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573405	0.89[ASN][1000 genomes]
rs1893523	0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2004084	0.86[ASN][1000 genomes]
rs2004085	0.95[ASN][1000 genomes]
rs28430300	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28729696	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34775986	0.94[ASN][1000 genomes]
rs3744996	0.89[ASN][1000 genomes]
rs3745000	0.91[ASN][1000 genomes]
rs3826634	0.87[ASN][1000 genomes]
rs4629066	0.88[ASN][1000 genomes]
rs475452	0.81[ASN][1000 genomes]
rs481755	0.80[ASN][1000 genomes]
rs57011365	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57484487	0.89[ASN][1000 genomes]
rs57531499	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58306126	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58312765	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59884993	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60288752	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60866799	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61363974	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61449207	0.81[ASN][1000 genomes]
rs61680317	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs630625	0.81[ASN][1000 genomes]
rs6507648	0.95[ASN][1000 genomes]
rs6507652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7226881	0.86[ASN][1000 genomes]
rs7230104	0.89[ASN][1000 genomes]
rs7234750	0.95[ASN][1000 genomes]
rs7235022	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7235629	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7237861	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7238229	0.87[ASN][1000 genomes]
rs7242733	0.86[ASN][1000 genomes]
rs72918390	0.86[ASN][1000 genomes]
rs73953913	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73953914	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8086343	0.87[ASN][1000 genomes]
rs8086401	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8087546	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8088080	0.92[ASN][1000 genomes]
rs8088153	0.83[ASN][1000 genomes]
rs8091448	0.89[ASN][1000 genomes]
rs8093119	0.93[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs8094023	0.95[ASN][1000 genomes]
rs8097415	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097963	0.87[ASN][1000 genomes]
rs8098012	0.94[ASN][1000 genomes]
rs8098175	0.89[ASN][1000 genomes]
rs8098701	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9946797	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9946933	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9947914	0.87[ASN][1000 genomes]
rs9948988	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9955285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9955829	0.94[ASN][1000 genomes]
rs9957288	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9958844	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9959763	0.90[ASN][1000 genomes]
rs9959893	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9960220	0.87[ASN][1000 genomes]
rs9960231	0.87[ASN][1000 genomes]
rs9962353	0.94[ASN][1000 genomes]
rs9963463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9964220	0.86[ASN][1000 genomes]
rs9964347	0.89[ASN][1000 genomes]
rs9964996	0.87[ASN][1000 genomes]
rs9965433	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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
rs12604492	KIAA1632	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
4	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
6	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
9	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
11	chr18:43494200-43520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr18:43501200-43535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:43501200-43536000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr18:43505000-43528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:43505800-43520600	Weak transcription	Psoas Muscle	Psoas
17	chr18:43509200-43520800	Weak transcription	Fetal Brain Male	brain
18	chr18:43510000-43523000	Strong transcription	Fetal Stomach	stomach
19	chr18:43512200-43536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr18:43512400-43535200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr18:43512400-43535600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:43512600-43531000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:43514200-43521600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr18:43514200-43526800	Strong transcription	NHDF-Ad	bronchial
25	chr18:43514400-43529400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr18:43514400-43536200	Strong transcription	Fetal Thymus	thymus
27	chr18:43514400-43536400	Strong transcription	Dnd41	blood
28	chr18:43514400-43537000	Strong transcription	Primary B cells from cord blood	blood
29	chr18:43514600-43529200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:43514600-43536400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:43515400-43521600	Strong transcription	Brain Hippocampus Middle	brain
32	chr18:43516200-43521000	Strong transcription	Osteobl	bone
33	chr18:43516200-43528600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:43516200-43528600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:43516200-43529600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:43516200-43529800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr18:43516800-43530600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:43517600-43521600	Genic enhancers	GM12878-XiMat	blood
39	chr18:43517600-43529600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:43517600-43529600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:43517600-43533400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr18:43517600-43535200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr18:43517600-43535400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr18:43517600-43535600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:43517600-43536200	Strong transcription	Liver	Liver
46	chr18:43517800-43521600	Strong transcription	Brain Angular Gyrus	brain
47	chr18:43517800-43522000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr18:43517800-43527000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:43517800-43527200	Strong transcription	Brain Anterior Caudate	brain
50	chr18:43517800-43529200	Strong transcription	Brain Germinal Matrix	brain

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