Variant report

Variant	rs502157
Chromosome Location	chr15:43528573-43528574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10851414	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11070389	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[MKK][hapmap]
rs11070390	0.84[ASN][1000 genomes]
rs11632120	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12442190	0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs12913112	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12913134	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1474200	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1814323	1.00[ASW][hapmap]
rs2056346	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2139651	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs2139652	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2438149	0.87[AFR][1000 genomes]
rs476342	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs489964	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923956	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs504417	1.00[ASW][hapmap]
rs513970	1.00[ASW][hapmap]
rs525403	0.88[CEU][hapmap];0.86[CHB][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs530118	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs531598	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs574531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574856	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7165861	0.83[ASN][1000 genomes]
rs7166467	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs502157	TGM5	cis	lymphoblastoid	seeQTL
rs502157	CCNDBP1	cis	multi-tissue	Pritchard
rs502157	CD40	trans	cerebellum	SCAN
rs502157	LIMA1	trans	lymphoblastoid	seeQTL
rs502157	SNAP23	cis	cerebellum	SCAN
rs502157	TYRO3	cis	parietal	SCAN
rs502157	ZNF690	cis	multi-tissue	Pritchard
rs502157	WDR76	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43523600-43530800	Weak transcription	K562	blood
2	chr15:43524800-43530200	Weak transcription	Adipose Nuclei	Adipose
3	chr15:43525800-43528600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:43527000-43530400	Weak transcription	Esophagus	oesophagus
5	chr15:43528000-43529000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:43528000-43531600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:43528200-43529000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:43528400-43528800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:43528400-43529400	Enhancers	Primary B cells from peripheral blood	blood

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