Variant report

Variant	rs11082494
Chromosome Location	chr18:43469579-43469580
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10163872	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10164218	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075906	0.83[ASN][1000 genomes]
rs11082495	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082496	0.91[ASN][1000 genomes]
rs1111937	0.90[ASN][1000 genomes]
rs1115698	0.91[ASN][1000 genomes]
rs1117868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125807	0.83[ASN][1000 genomes]
rs1440823	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744998	0.81[ASN][1000 genomes]
rs4890305	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890604	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890605	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673821	0.89[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	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967137	0.88[ASN][1000 genomes]
rs9807578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9956058	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11082494	EPG5	cis	Nerve Tibial	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	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:43432000-43470400	Strong transcription	Adipose Nuclei	Adipose
4	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
5	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:43445600-43478000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:43445800-43483800	Weak transcription	K562	blood
8	chr18:43446200-43479400	Weak transcription	Fetal Brain Male	brain
9	chr18:43447000-43478400	Weak transcription	Stomach Mucosa	stomach
10	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:43450800-43478000	Weak transcription	Right Ventricle	heart
12	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:43452000-43479000	Weak transcription	HMEC	breast
14	chr18:43452400-43470400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:43453400-43470400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr18:43455600-43476400	Strong transcription	Primary T cells from cord blood	blood
18	chr18:43456400-43469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:43456600-43473600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr18:43457000-43470000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:43457200-43479200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr18:43457400-43471000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr18:43457600-43470000	Strong transcription	HSMMtube	muscle
27	chr18:43457600-43471000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr18:43459200-43478400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr18:43459200-43479200	Weak transcription	Psoas Muscle	Psoas
30	chr18:43460400-43471000	Strong transcription	Liver	Liver
31	chr18:43460600-43476000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:43460800-43473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:43460800-43500200	Strong transcription	Osteobl	bone
34	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr18:43461000-43478000	Weak transcription	Pancreas	Pancrea
36	chr18:43462200-43478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:43462200-43492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:43462400-43477800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:43464000-43470000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr18:43464800-43473600	Weak transcription	Fetal Heart	heart
41	chr18:43464800-43475200	Weak transcription	Fetal Kidney	kidney
42	chr18:43464800-43477800	Weak transcription	Brain Hippocampus Middle	brain
43	chr18:43464800-43478000	Weak transcription	Brain Anterior Caudate	brain
44	chr18:43464800-43478000	Weak transcription	Esophagus	oesophagus
45	chr18:43464800-43478000	Weak transcription	Gastric	stomach
46	chr18:43464800-43478200	Weak transcription	Ovary	ovary
47	chr18:43464800-43478200	Weak transcription	GM12878-XiMat	blood
48	chr18:43464800-43479800	Weak transcription	Hela-S3	cervix
49	chr18:43465400-43476800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr18:43465600-43471000	Strong transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links