Variant report

Variant	rs8029283
Chromosome Location	chr15:76837140-76837141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1011083	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1011084	0.83[EUR][1000 genomes]
rs10152247	0.90[EUR][1000 genomes]
rs10851888	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs10851889	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11072591	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs11072597	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs11072598	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs11072600	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072602	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072607	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11072610	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11072612	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11072613	0.81[CHB][hapmap]
rs11072614	0.91[CHB][hapmap]
rs11072616	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11072618	0.81[EUR][1000 genomes]
rs11629727	0.83[EUR][1000 genomes]
rs11629888	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs11630185	0.83[CHB][hapmap]
rs11630402	0.83[EUR][1000 genomes]
rs11631394	0.83[EUR][1000 genomes]
rs11632670	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs11632765	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11633309	0.87[CHB][hapmap]
rs11635273	0.83[EUR][1000 genomes]
rs11635463	0.91[CEU][hapmap];0.84[CHB][hapmap]
rs11636612	0.83[CHB][hapmap]
rs11637096	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs11638767	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs11852777	0.92[EUR][1000 genomes]
rs11854850	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11855762	0.88[EUR][1000 genomes]
rs11857015	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs11857327	0.95[CEU][hapmap];0.85[CHB][hapmap]
rs12437981	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440511	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12440965	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12591100	0.80[CHB][hapmap]
rs12591622	0.89[EUR][1000 genomes]
rs12898810	0.93[EUR][1000 genomes]
rs12904417	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12906143	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs12909656	0.95[CEU][hapmap];0.84[CHB][hapmap]
rs12910081	0.82[EUR][1000 genomes]
rs12910820	0.82[EUR][1000 genomes]
rs12914196	0.90[EUR][1000 genomes]
rs12915184	0.82[CHB][hapmap]
rs1568083	0.82[CHB][hapmap]
rs157783	0.81[CHB][hapmap]
rs1603860	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1607015	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs1607017	0.96[CEU][hapmap];0.84[CHB][hapmap]
rs1809875	0.91[EUR][1000 genomes]
rs2047504	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2120109	0.83[EUR][1000 genomes]
rs2164102	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280306	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs2404604	0.83[EUR][1000 genomes]
rs2404734	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2436994	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs2436996	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2454450	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2454451	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454454	0.96[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2459361	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2461870	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs2461871	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2469249	0.85[CHB][hapmap]
rs283789	0.95[CEU][hapmap]
rs283793	0.83[CHB][hapmap]
rs283795	0.81[CHB][hapmap]
rs28895952	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2957614	0.96[CEU][hapmap];0.81[CHB][hapmap]
rs34103231	0.91[EUR][1000 genomes]
rs3765115	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs437131	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs4886493	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs4886495	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs4886798	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs4886800	0.86[CHB][hapmap]
rs4886805	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs4886816	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886819	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4886823	0.83[CHB][hapmap]
rs56339024	0.83[EUR][1000 genomes]
rs57682236	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62026889	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62026898	0.90[EUR][1000 genomes]
rs62028434	0.80[EUR][1000 genomes]
rs7165053	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7181506	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs744336	0.81[CHB][hapmap]
rs8037847	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs908817	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs920712	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs965818	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053924	chr15:76803849-77089079	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv471254	chr15:76811390-76978139	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv570021	chr15:76813920-76978139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv570022	chr15:76816015-76978139	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv904401	chr15:76816015-77085283	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs8029283	SCAPER	cis	Artery Tibial	GTEx
rs8029283	SCAPER	cis	Esophagus Muscularis	GTEx
rs8029283	SCAPER	cis	Stomach	GTEx
rs8029283	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs8029283	SCAPER	cis	Esophagus Mucosa	GTEx
rs8029283	ZNF291	cis	lesional skin	skin_eQTL
rs8029283	ISL2	cis	Whole Blood	GTEx
rs8029283	ZNF291	cis	uninvolved skin	skin_eQTL
rs8029283	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs8029283	SCAPER	cis	lung	GTEx
rs8029283	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs8029283	SCAPER	cis	Thyroid	GTEx
rs8029283	SCAPER	cis	Adipose Subcutaneous	GTEx
rs8029283	SCAPER	cis	Nerve Tibial	GTEx
rs8029283	SCAPER	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76805600-76845800	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links