Variant report

Variant	rs13358429
Chromosome Location	chr5:74618186-74618187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10045497	0.81[CEU][hapmap]
rs10474433	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749783	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs12654264	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs1551894	0.85[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs17671591	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878417	0.85[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs2878418	0.83[ASN][1000 genomes]
rs3761743	0.80[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs3843481	0.81[CEU][hapmap]
rs3846662	0.83[GIH][hapmap]
rs3931914	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4549504	0.83[GIH][hapmap]
rs4604177	0.83[GIH][hapmap]
rs4703670	0.81[JPT][hapmap]
rs4704208	0.81[AFR][1000 genomes]
rs5744533	0.80[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs6878990	0.83[GIH][hapmap]
rs698912	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs7700468	0.80[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs7701925	0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7703051	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs7709282	0.80[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]

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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13358429	HMGCR	cis	parietal	SCAN
rs13358429	POC5	cis	parietal	SCAN
rs13358429	ARSB	cis	parietal	SCAN
rs13358429	HMGCR	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74614000-74621400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:74615600-74618200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:74615800-74618400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:74616000-74618400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:74616600-74619000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:74617000-74619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:74617200-74619000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:74617200-74624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:74617200-74626000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:74617400-74618800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:74617400-74618800	Weak transcription	NHEK	skin
12	chr5:74617400-74619000	Enhancers	A549	lung
13	chr5:74617400-74620200	Weak transcription	HepG2	liver
14	chr5:74617400-74620200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:74617600-74618800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:74617600-74618800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:74617600-74623400	Weak transcription	NHDF-Ad	bronchial
18	chr5:74617800-74618800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:74617800-74619000	Enhancers	Hela-S3	cervix
20	chr5:74618000-74619000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:74618000-74619000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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