Variant report

Variant	rs8093119
Chromosome Location	chr18:43548197-43548198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:43546473-43548216	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43545858..43548536-chr18:43676652..43678402,2	MCF-7	breast:

Variant related genes	Relation type
EPG5	TF binding region
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10432160	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10432197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853537	0.85[JPT][hapmap]
rs11082498	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11082501	0.86[ASN][1000 genomes]
rs11661333	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs12232683	0.83[ASN][1000 genomes]
rs12454420	0.86[ASN][1000 genomes]
rs12604430	0.85[ASN][1000 genomes]
rs12604492	0.83[ASN][1000 genomes]
rs1371976	0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap]
rs1573404	0.88[ASN][1000 genomes]
rs1893523	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs2004084	0.83[ASN][1000 genomes]
rs28430300	0.86[ASN][1000 genomes]
rs3745000	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4629066	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs475452	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs481755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507653	0.81[JPT][hapmap]
rs57011365	0.82[ASN][1000 genomes]
rs57531499	0.91[ASN][1000 genomes]
rs58306126	0.80[ASN][1000 genomes]
rs58312765	0.86[ASN][1000 genomes]
rs584397	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59884993	0.86[ASN][1000 genomes]
rs60288752	0.82[ASN][1000 genomes]
rs60866799	0.88[ASN][1000 genomes]
rs61363974	0.83[ASN][1000 genomes]
rs61449207	0.88[ASN][1000 genomes]
rs61680317	0.86[ASN][1000 genomes]
rs630625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507652	0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7226881	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7230104	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7231179	0.90[AMR][1000 genomes]
rs7231317	0.87[AMR][1000 genomes]
rs7235629	0.88[ASN][1000 genomes]
rs7238724	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242733	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72918390	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8086401	0.90[ASN][1000 genomes]
rs8087546	0.88[ASN][1000 genomes]
rs8088153	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8097415	0.83[ASN][1000 genomes]
rs8098175	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8098701	0.86[ASN][1000 genomes]
rs8099496	0.85[JPT][hapmap]
rs9948634	0.89[AMR][1000 genomes]
rs9948988	0.80[ASN][1000 genomes]
rs9955285	0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs9957288	0.82[ASN][1000 genomes]
rs9958844	0.82[ASN][1000 genomes]
rs9959763	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9963463	0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs9964220	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9964347	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv2277	chr18:43543715-43588579	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8093119	KIAA1632	cis	lymphoblastoid	seeQTL
rs8093119	KIAA1632	cis	multi-tissue	Pritchard
rs8093119	KIAA1632	cis	Lymphoblastoid	GTEx
rs8093119	ATP5A1	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43545600-43548200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr18:43545800-43548200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:43545800-43548200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:43545800-43548200	Active TSS	Brain Angular Gyrus	brain
5	chr18:43545800-43548200	Active TSS	Duodenum Mucosa	Duodenum
6	chr18:43545800-43548200	Active TSS	HMEC	breast
7	chr18:43545800-43548200	Active TSS	NHLF	lung
8	chr18:43546000-43548200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:43546200-43548200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:43546400-43548200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr18:43546400-43548200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr18:43546400-43548200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:43546400-43548200	Active TSS	Brain Anterior Caudate	brain
14	chr18:43546400-43548200	Active TSS	Brain Hippocampus Middle	brain
15	chr18:43546400-43548200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:43546400-43548200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr18:43546400-43548200	Active TSS	A549	lung
18	chr18:43546400-43548200	Active TSS	GM12878-XiMat	blood
19	chr18:43546800-43548200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr18:43547200-43548200	Active TSS	Fetal Brain Male	brain
21	chr18:43547400-43548200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr18:43547400-43548200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:43547400-43548200	Active TSS	Brain Germinal Matrix	brain
24	chr18:43547600-43548200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr18:43547600-43548200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr18:43547600-43548200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr18:43547600-43548200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr18:43547600-43548200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr18:43547600-43548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:43547600-43548200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:43547600-43548200	Flanking Active TSS	Dnd41	blood
32	chr18:43547600-43548200	Flanking Active TSS	Osteobl	bone
33	chr18:43547800-43548200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr18:43547800-43548200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr18:43547800-43548200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr18:43547800-43548200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:43547800-43548200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:43547800-43548200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr18:43547800-43548200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr18:43547800-43548200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr18:43547800-43548200	Flanking Active TSS	NHEK	skin
42	chr18:43548000-43548200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:43548000-43548200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr18:43548000-43548200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr18:43548000-43548200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:43548000-43548200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:43548000-43548200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr18:43548000-43548200	Active TSS	Primary B cells from cord blood	blood
49	chr18:43548000-43548200	Enhancers	Primary B cells from peripheral blood	blood
50	chr18:43548000-43548200	Enhancers	Primary T cells from cord blood	blood

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