Variant report

Variant	rs1111937
Chromosome Location	chr18:43472035-43472036
allele	G/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: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10163872	0.90[ASN][1000 genomes]
rs10164218	0.90[ASN][1000 genomes]
rs1075906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11082494	0.90[ASN][1000 genomes]
rs11082495	0.90[ASN][1000 genomes]
rs11082496	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1115698	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117868	0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1125807	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1440823	0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3744998	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]
rs4890305	0.90[ASN][1000 genomes]
rs4890604	0.87[ASN][1000 genomes]
rs4890605	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs55673821	0.90[ASN][1000 genomes]
rs56193097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62095408	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7231317	0.84[ASN][1000 genomes]
rs8089685	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs967137	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9807578	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9956058	0.88[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1111937	EPG5	cis	Nerve Tibial	GTEx
rs1111937	KIAA1632	cis	parietal	SCAN

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	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
4	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:43445600-43478000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:43445800-43483800	Weak transcription	K562	blood
7	chr18:43446200-43479400	Weak transcription	Fetal Brain Male	brain
8	chr18:43447000-43478400	Weak transcription	Stomach Mucosa	stomach
9	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:43450800-43478000	Weak transcription	Right Ventricle	heart
11	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:43452000-43479000	Weak transcription	HMEC	breast
13	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr18:43455600-43476400	Strong transcription	Primary T cells from cord blood	blood
15	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:43456600-43473600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr18:43457200-43479200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr18:43459200-43478400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr18:43459200-43479200	Weak transcription	Psoas Muscle	Psoas
22	chr18:43460600-43476000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:43460800-43473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:43460800-43500200	Strong transcription	Osteobl	bone
25	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr18:43461000-43478000	Weak transcription	Pancreas	Pancrea
27	chr18:43462200-43478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:43462200-43492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:43462400-43477800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:43464800-43473600	Weak transcription	Fetal Heart	heart
31	chr18:43464800-43475200	Weak transcription	Fetal Kidney	kidney
32	chr18:43464800-43477800	Weak transcription	Brain Hippocampus Middle	brain
33	chr18:43464800-43478000	Weak transcription	Brain Anterior Caudate	brain
34	chr18:43464800-43478000	Weak transcription	Esophagus	oesophagus
35	chr18:43464800-43478000	Weak transcription	Gastric	stomach
36	chr18:43464800-43478200	Weak transcription	Ovary	ovary
37	chr18:43464800-43478200	Weak transcription	GM12878-XiMat	blood
38	chr18:43464800-43479800	Weak transcription	Hela-S3	cervix
39	chr18:43465400-43476800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr18:43465800-43475800	Strong transcription	Dnd41	blood
41	chr18:43466200-43475200	Strong transcription	Fetal Thymus	thymus
42	chr18:43466400-43498400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:43466800-43476000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:43467000-43474800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:43467200-43472200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:43467200-43472600	Strong transcription	NH-A	brain
47	chr18:43467800-43477800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr18:43467800-43478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:43467800-43478000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr18:43468000-43473000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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