Variant report

Variant	rs12604893
Chromosome Location	chr18:43607325-43607326
allele	A/T
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	PAX5	chr18:43607324-43607639	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43605354..43607619-chr18:43610369..43613153,2	K562	blood:

Variant related genes	Relation type
ENSG00000267293	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12607686	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16978508	0.84[EUR][1000 genomes]
rs16978509	0.84[EUR][1000 genomes]
rs16978517	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1837213	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs486424	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs488431	0.85[EUR][1000 genomes]
rs4890612	0.89[EUR][1000 genomes]
rs4890613	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567504	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs568448	0.86[EUR][1000 genomes]
rs57141604	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58563731	0.82[ASN][1000 genomes]
rs593664	0.85[EUR][1000 genomes]
rs596415	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61423911	0.85[ASN][1000 genomes]
rs6507661	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs687526	0.85[EUR][1000 genomes]
rs688547	0.81[EUR][1000 genomes]
rs7237813	0.85[EUR][1000 genomes];0.85[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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12604893	EPG5	cis	Whole Blood	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43558800-43608000	Weak transcription	Pancreas	Pancrea
2	chr18:43568800-43607800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr18:43571400-43622000	Weak transcription	Gastric	stomach
4	chr18:43574200-43608000	Weak transcription	NHLF	lung
5	chr18:43574600-43608000	Weak transcription	Osteobl	bone
6	chr18:43583400-43607800	Weak transcription	Fetal Intestine Small	intestine
7	chr18:43583400-43608200	Weak transcription	Esophagus	oesophagus
8	chr18:43586200-43607600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:43588000-43607400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr18:43589200-43607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:43590800-43607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:43590800-43608000	Weak transcription	Primary T cells from cord blood	blood
13	chr18:43591000-43607800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr18:43591000-43607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr18:43591000-43608000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:43591000-43608000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:43591000-43608000	Weak transcription	Ovary	ovary
18	chr18:43591200-43607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:43591600-43608000	Weak transcription	NHEK	skin
20	chr18:43594200-43607400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr18:43595400-43608000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:43595600-43608000	Weak transcription	Liver	Liver
23	chr18:43595600-43608200	Weak transcription	Lung	lung
24	chr18:43595800-43607800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:43595800-43608200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:43595800-43608200	Weak transcription	Spleen	Spleen
27	chr18:43596800-43607800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:43597000-43607800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:43599600-43610600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:43600600-43608000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:43601000-43607400	Weak transcription	GM12878-XiMat	blood
32	chr18:43601000-43619000	Weak transcription	K562	blood
33	chr18:43602800-43607800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr18:43604200-43608200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:43605200-43608000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:43606200-43607400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr18:43606600-43607800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr18:43606600-43607800	Weak transcription	Right Atrium	heart
39	chr18:43606800-43608000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr18:43606800-43608200	Weak transcription	HMEC	breast
41	chr18:43607000-43607800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr18:43607000-43608000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:43607200-43608000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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