Variant report

Variant	rs3744998
Chromosome Location	chr18:43497710-43497711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10163872	0.81[ASN][1000 genomes]
rs10164218	0.81[ASN][1000 genomes]
rs1075906	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11082494	0.81[ASN][1000 genomes]
rs11082495	0.81[ASN][1000 genomes]
rs11082496	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1111937	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1115698	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1117868	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1125807	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1440823	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4890305	0.81[ASN][1000 genomes]
rs4890605	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs55673821	0.81[ASN][1000 genomes]
rs56193097	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56298801	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62095408	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7231317	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8089685	1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs967137	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9807578	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3744998	EPG5	cis	Esophagus Muscularis	GTEx
rs3744998	KIAA1632	cis	parietal	SCAN
rs3744998	EPG5	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:43460800-43500200	Strong transcription	Osteobl	bone
7	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr18:43466400-43498400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:43469800-43519000	Weak transcription	A549	lung
10	chr18:43471000-43506400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:43471800-43500200	Strong transcription	Adipose Nuclei	Adipose
12	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr18:43472600-43498600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr18:43473000-43505800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr18:43474000-43505200	Strong transcription	NHLF	lung
17	chr18:43474400-43500000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr18:43474600-43498200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr18:43474600-43511000	Strong transcription	Primary B cells from cord blood	blood
20	chr18:43474600-43511200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr18:43474800-43511200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
23	chr18:43475400-43500600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:43476200-43498000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr18:43476400-43497800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:43476800-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:43477000-43500000	Strong transcription	NHDF-Ad	bronchial
29	chr18:43477400-43498200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:43477400-43498800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr18:43477800-43498200	Strong transcription	Fetal Muscle Leg	muscle
32	chr18:43477800-43498600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:43477800-43500000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:43477800-43513600	Strong transcription	Fetal Thymus	thymus
35	chr18:43477800-43516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
37	chr18:43478000-43498200	Strong transcription	Brain Anterior Caudate	brain
38	chr18:43478000-43500200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:43478000-43500400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr18:43478000-43511400	Strong transcription	Dnd41	blood
41	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:43478200-43506600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr18:43478400-43505800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr18:43480200-43500200	Weak transcription	Right Atrium	heart
45	chr18:43481000-43498000	Strong transcription	Brain Germinal Matrix	brain
46	chr18:43481200-43498800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:43481200-43500200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr18:43483000-43500000	Strong transcription	Liver	Liver
50	chr18:43483400-43498400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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