Variant report

Variant	rs13029531
Chromosome Location	chr2:113731120-113731121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10178396	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10188477	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10188765	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10206205	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10221977	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10864907	0.83[MEX][hapmap]
rs10864908	0.84[EUR][1000 genomes]
rs11123153	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11123154	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674086	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676013	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs11690399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11897907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562305	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1867827	0.96[ASN][1000 genomes]
rs1867828	0.96[ASN][1000 genomes]
rs2305151	0.98[ASN][1000 genomes]
rs4254516	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58593758	0.98[ASN][1000 genomes]
rs6747618	0.85[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7559466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7578034	0.94[ASN][1000 genomes]
rs7580877	0.96[ASN][1000 genomes]
rs879710	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879711	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2880	chr2:113716802-113736921	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13029531	DPP10	cis	parietal	SCAN
rs13029531	ACOXL	cis	parietal	SCAN
rs13029531	IL1B	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113729200-113731600	Enhancers	HMEC	breast
2	chr2:113729400-113731400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113729600-113731200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113729600-113731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113730600-113731400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:113730600-113731400	Enhancers	NHEK	skin

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