Variant report

Variant	rs491215
Chromosome Location	chr15:40184587-40184588
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	chr15:40183021..40186569-chr15:40187372..40191389,4	K562	blood:
2	chr15:40180749..40182697-chr15:40183768..40185332,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs169329	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs172105	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183914	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs275725	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs275732	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs275733	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs381732	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs404258	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs407282	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41487846	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs4924399	0.81[CEU][hapmap]
rs570518	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs491215	OIP5	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40162400-40187000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40176200-40185000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr15:40179400-40185200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr15:40180200-40197000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:40180600-40189200	Weak transcription	HSMMtube	muscle
6	chr15:40180800-40188400	Weak transcription	NHDF-Ad	bronchial
7	chr15:40180800-40197200	Weak transcription	Pancreas	Pancrea
8	chr15:40181000-40187800	Weak transcription	NH-A	brain
9	chr15:40181000-40188400	Weak transcription	NHLF	lung
10	chr15:40181000-40188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:40181200-40188400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:40181400-40184800	Weak transcription	K562	blood
13	chr15:40181400-40189000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:40181600-40188400	Weak transcription	HUVEC	blood vessel
15	chr15:40181600-40196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:40181600-40196800	Weak transcription	NHEK	skin
17	chr15:40183400-40189200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:40183600-40185000	Genic enhancers	H9 Cell Line	embryonic stem cell
19	chr15:40183600-40185000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:40183600-40185200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:40183600-40185200	Strong transcription	HSMM	muscle
22	chr15:40183800-40184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:40183800-40184800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:40183800-40188800	Weak transcription	Aorta	Aorta
25	chr15:40184000-40185000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:40184000-40190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:40184000-40199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:40184200-40184600	Enhancers	Stomach Mucosa	stomach
29	chr15:40184200-40185000	Enhancers	HepG2	liver
30	chr15:40184200-40185200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:40184400-40185000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:40184400-40185000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:40184400-40185200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr15:40184400-40185200	Strong transcription	Osteobl	bone

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