Variant report

Variant	rs8095439
Chromosome Location	chr18:43444857-43444858
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	chr18:43443491..43445130-chr18:43445343..43447216,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10432160	0.85[JPT][hapmap]
rs10432197	0.85[JPT][hapmap]
rs1055066	1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs10853537	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11082490	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11082491	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11082492	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11082493	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11661333	1.00[CEU][hapmap]
rs12455488	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12456289	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12458195	1.00[CEU][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12604912	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371976	1.00[CEU][hapmap]
rs1660561	0.87[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790299	0.87[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893523	1.00[CEU][hapmap]
rs2919643	0.82[EUR][1000 genomes]
rs2958437	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34185907	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35316177	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs492411	0.87[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs500899	0.87[CEU][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs507653	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs570975	0.87[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs571690	0.87[CEU][hapmap];0.90[CHD][hapmap]
rs61104666	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7233909	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8083287	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8085782	1.00[CEU][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8093119	0.85[JPT][hapmap]
rs8099496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950673	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9958081	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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
rs8095439	PIAS2	cis	cerebellum	SCAN

Chromatin state (count:124 , 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	chr18:43426400-43446000	Weak transcription	Stomach Mucosa	stomach
3	chr18:43428000-43448400	Strong transcription	Primary T cells from cord blood	blood
4	chr18:43428200-43448200	Strong transcription	Placenta	Placenta
5	chr18:43428200-43455600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:43428400-43448400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr18:43428600-43448800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:43429000-43448200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr18:43429000-43454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:43429000-43464800	Strong transcription	Fetal Intestine Large	intestine
12	chr18:43429200-43448200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr18:43429200-43448400	Strong transcription	Dnd41	blood
14	chr18:43429200-43451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr18:43429200-43451800	Strong transcription	Fetal Thymus	thymus
16	chr18:43429200-43453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:43429200-43454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:43429200-43462400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr18:43429200-43464800	Strong transcription	HSMM	muscle
20	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:43429400-43453000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr18:43429400-43454200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr18:43429400-43454600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:43429400-43468600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr18:43429600-43448400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr18:43429800-43448200	Strong transcription	Primary B cells from cord blood	blood
27	chr18:43431200-43448200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:43431200-43448200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr18:43431600-43454600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:43431600-43456800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:43432000-43448200	Strong transcription	Brain Anterior Caudate	brain
32	chr18:43432000-43448400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:43432000-43470400	Strong transcription	Adipose Nuclei	Adipose
34	chr18:43432200-43447600	Strong transcription	Brain Hippocampus Middle	brain
35	chr18:43432200-43448200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr18:43432200-43448400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:43432200-43451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:43432400-43448200	Strong transcription	NHLF	lung
39	chr18:43432800-43445800	Strong transcription	Liver	Liver
40	chr18:43433200-43450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr18:43435600-43458400	Weak transcription	Psoas Muscle	Psoas
42	chr18:43437000-43451400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:43437600-43448200	Strong transcription	NHDF-Ad	bronchial
44	chr18:43438200-43445000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:43438600-43445400	Weak transcription	K562	blood
46	chr18:43440600-43445000	Weak transcription	Colonic Mucosa	Colon
47	chr18:43440600-43445000	Weak transcription	Right Ventricle	heart
48	chr18:43440600-43445400	Weak transcription	Aorta	Aorta
49	chr18:43440600-43454800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine

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