Variant report

Variant	rs1566159
Chromosome Location	chr8:104090278-104090279
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104087192..104090811-chr8:104308790..104311977,3	MCF-7	breast:
2	chr8:104090004..104092160-chr8:104092634..104094909,2	MCF-7	breast:
3	chr8:104088225..104090589-chr8:104426993..104428742,2	MCF-7	breast:
4	chr8:104087016..104090953-chr8:104310983..104313064,3	MCF-7	breast:
5	chr8:103875020..103877566-chr8:104088443..104090711,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164933	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1018088	0.92[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1497448	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047375	0.83[CHD][hapmap];0.88[MEX][hapmap]
rs3942966	0.83[CHD][hapmap];0.88[MEX][hapmap];0.83[AMR][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1566159	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
2	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
3	chr8:104080400-104091200	Weak transcription	Small Intestine	intestine
4	chr8:104081200-104091000	Weak transcription	Ovary	ovary
5	chr8:104083200-104090600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:104083600-104093000	Weak transcription	Placenta	Placenta
7	chr8:104084000-104090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:104084200-104090400	Weak transcription	Fetal Stomach	stomach
9	chr8:104084200-104090800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:104084200-104090800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:104084200-104091000	Weak transcription	Thymus	Thymus
12	chr8:104086600-104090400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:104086800-104091000	Weak transcription	Fetal Brain Male	brain
14	chr8:104087600-104093200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:104088000-104090600	Enhancers	Right Atrium	heart
16	chr8:104088000-104090800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:104088200-104090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:104088200-104090600	Enhancers	HUVEC	blood vessel
19	chr8:104088200-104091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:104088400-104090400	Enhancers	Fetal Muscle Leg	muscle
21	chr8:104088400-104091600	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:104088600-104091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:104088600-104092000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:104088800-104090800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:104089000-104090400	Enhancers	Adipose Nuclei	Adipose
26	chr8:104089000-104091600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr8:104089200-104090400	Bivalent Enhancer	Fetal Lung	lung
28	chr8:104089200-104090400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:104089200-104090400	Weak transcription	Osteobl	bone
30	chr8:104089200-104091200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:104089200-104091200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:104089400-104090400	Enhancers	Lung	lung
33	chr8:104089400-104090800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:104089400-104091600	Enhancers	Liver	Liver
35	chr8:104089600-104090400	Enhancers	Pancreas	Pancrea
36	chr8:104089600-104090600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr8:104089800-104090400	Enhancers	Spleen	Spleen
38	chr8:104089800-104090600	Enhancers	Right Ventricle	heart
39	chr8:104089800-104090800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:104089800-104090800	Enhancers	Left Ventricle	heart
41	chr8:104089800-104091200	Enhancers	Colon Smooth Muscle	Colon
42	chr8:104090000-104090400	Enhancers	Gastric	stomach
43	chr8:104090000-104090400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr8:104090000-104090400	Enhancers	NHLF	lung
45	chr8:104090000-104090800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
46	chr8:104090000-104091000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:104090000-104091200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:104090200-104090400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:104090200-104090400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:104090200-104090400	Bivalent Enhancer	Colonic Mucosa	Colon

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