Variant report

Variant	rs513270
Chromosome Location	chr9:15240033-15240034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15238862..15241119-chr9:15243843..15246423,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10217576	0.84[EUR][1000 genomes]
rs10810364	0.82[JPT][hapmap]
rs10961915	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs10961918	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10961923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10961924	0.90[EUR][1000 genomes]
rs1215123	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1215124	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12343442	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs12377170	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146864	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488958	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2506762	0.81[ASN][1000 genomes]
rs4741479	0.82[JPT][hapmap]
rs480635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591647	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs654202	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68152174	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7033069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7041937	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031340	chr9:15163004-15332769	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv521191	chr9:15218947-15246652	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs513270	PLIN2	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15193400-15249600	Weak transcription	Colonic Mucosa	Colon
2	chr9:15221200-15242200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:15221800-15242800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:15223400-15258200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:15224400-15242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:15224600-15243600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:15224600-15244400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:15229800-15243000	Weak transcription	Gastric	stomach
9	chr9:15229800-15243000	Weak transcription	Ovary	ovary
10	chr9:15232000-15244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:15232600-15246400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:15233600-15243400	Weak transcription	Fetal Stomach	stomach
13	chr9:15235200-15240200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:15235200-15240200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:15238200-15240800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:15238400-15275400	Weak transcription	Fetal Intestine Large	intestine
17	chr9:15238800-15240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr9:15238800-15243600	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:15239000-15242400	Weak transcription	Fetal Intestine Small	intestine
20	chr9:15239000-15244200	Weak transcription	Esophagus	oesophagus
21	chr9:15239000-15247000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:15239400-15243600	Weak transcription	Pancreas	Pancrea
23	chr9:15239600-15240200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr9:15239600-15240600	Enhancers	Adipose Nuclei	Adipose
25	chr9:15239600-15241000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:15239600-15241000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:15239600-15241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:15239800-15240400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
29	chr9:15239800-15240800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr9:15239800-15241000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:15240000-15240200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:15240000-15240200	Enhancers	Aorta	Aorta
33	chr9:15240000-15240400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:15240000-15240400	Enhancers	Rectal Smooth Muscle	rectum
35	chr9:15240000-15240400	Enhancers	HepG2	liver
36	chr9:15240000-15240600	Enhancers	Small Intestine	intestine
37	chr9:15240000-15241200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:15240000-15241200	Enhancers	Osteobl	bone

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