Variant report

Variant	rs1075906
Chromosome Location	chr18:43502190-43502191
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10163872	0.83[ASN][1000 genomes]
rs10164218	0.83[ASN][1000 genomes]
rs11082494	0.83[ASN][1000 genomes]
rs11082495	0.83[ASN][1000 genomes]
rs11082496	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1111937	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]
rs1115698	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1117868	0.95[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1125807	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1440823	0.95[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs3744998	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]
rs4890305	0.83[ASN][1000 genomes]
rs4890604	0.82[ASN][1000 genomes]
rs4890605	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs55673821	0.83[ASN][1000 genomes]
rs56193097	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56298801	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62095408	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7231179	0.82[ASN][1000 genomes]
rs7231317	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8089685	0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs967137	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9807578	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9948634	0.82[ASN][1000 genomes]
rs9956058	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
rs1075906	EPG5	cis	Esophagus Muscularis	GTEx
rs1075906	KIAA1632	cis	parietal	SCAN
rs1075906	EPG5	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr18:43469800-43519000	Weak transcription	A549	lung
4	chr18:43471000-43506400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr18:43473000-43505800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr18:43474000-43505200	Strong transcription	NHLF	lung
9	chr18:43474600-43511000	Strong transcription	Primary B cells from cord blood	blood
10	chr18:43474600-43511200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr18:43474800-43511200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
13	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:43477800-43513600	Strong transcription	Fetal Thymus	thymus
15	chr18:43477800-43516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
17	chr18:43478000-43511400	Strong transcription	Dnd41	blood
18	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:43478200-43506600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr18:43478400-43505800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr18:43485200-43511400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:43491600-43511200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
25	chr18:43492400-43502200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
28	chr18:43494200-43520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:43495800-43512800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:43496400-43504200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:43496400-43508200	Weak transcription	K562	blood
32	chr18:43496400-43518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:43496600-43502200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:43496600-43518800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr18:43497800-43502200	Weak transcription	Gastric	stomach
36	chr18:43497800-43504200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:43497800-43504600	Weak transcription	Esophagus	oesophagus
38	chr18:43498800-43505000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:43499200-43505800	Strong transcription	Fetal Lung	lung
40	chr18:43499200-43506000	Strong transcription	Thymus	Thymus
41	chr18:43499200-43506400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:43499200-43516200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr18:43499800-43506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr18:43499800-43509800	Strong transcription	Fetal Brain Female	brain
45	chr18:43499800-43511600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr18:43500000-43505200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:43500000-43505800	Strong transcription	HepG2	liver
49	chr18:43500000-43506000	Strong transcription	NH-A	brain
50	chr18:43500000-43510200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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