Variant report

Variant	rs1440823
Chromosome Location	chr18:43474795-43474796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43470261..43474008-chr18:43474596..43477449,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10163872	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10164218	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075906	0.95[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11082494	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082495	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082496	0.91[ASN][1000 genomes]
rs1111937	0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1115698	0.91[ASN][1000 genomes]
rs1117868	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125807	0.83[ASN][1000 genomes]
rs3744998	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4890305	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890604	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673821	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56193097	0.90[ASN][1000 genomes]
rs56298801	0.89[ASN][1000 genomes]
rs62095408	0.91[ASN][1000 genomes]
rs8089685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967137	0.88[ASN][1000 genomes]
rs9807578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9956058	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
rs1440823	EPG5	cis	Nerve Tibial	GTEx
rs1440823	KIAA1632	cis	parietal	SCAN
rs1440823	EPG5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 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	chr18:43445600-43478000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:43445800-43483800	Weak transcription	K562	blood
6	chr18:43446200-43479400	Weak transcription	Fetal Brain Male	brain
7	chr18:43447000-43478400	Weak transcription	Stomach Mucosa	stomach
8	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:43450800-43478000	Weak transcription	Right Ventricle	heart
10	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:43452000-43479000	Weak transcription	HMEC	breast
12	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr18:43455600-43476400	Strong transcription	Primary T cells from cord blood	blood
14	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:43457200-43479200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr18:43459200-43478400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr18:43459200-43479200	Weak transcription	Psoas Muscle	Psoas
20	chr18:43460600-43476000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:43460800-43500200	Strong transcription	Osteobl	bone
22	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr18:43461000-43478000	Weak transcription	Pancreas	Pancrea
24	chr18:43462200-43478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:43462200-43492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:43462400-43477800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr18:43464800-43475200	Weak transcription	Fetal Kidney	kidney
28	chr18:43464800-43477800	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:43464800-43478000	Weak transcription	Brain Anterior Caudate	brain
30	chr18:43464800-43478000	Weak transcription	Esophagus	oesophagus
31	chr18:43464800-43478000	Weak transcription	Gastric	stomach
32	chr18:43464800-43478200	Weak transcription	Ovary	ovary
33	chr18:43464800-43478200	Weak transcription	GM12878-XiMat	blood
34	chr18:43464800-43479800	Weak transcription	Hela-S3	cervix
35	chr18:43465400-43476800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:43465800-43475800	Strong transcription	Dnd41	blood
37	chr18:43466200-43475200	Strong transcription	Fetal Thymus	thymus
38	chr18:43466400-43498400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:43466800-43476000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:43467000-43474800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:43467800-43477800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr18:43467800-43478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:43467800-43478000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:43468000-43474800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr18:43468000-43478000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:43469200-43478000	Weak transcription	Spleen	Spleen
47	chr18:43469400-43476200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:43469400-43478000	Weak transcription	Aorta	Aorta
49	chr18:43469400-43478000	Weak transcription	Lung	lung
50	chr18:43469400-43487600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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