Variant report

Variant	rs4245215
Chromosome Location	chr11:57713781-57713782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10750870	0.83[MEX][hapmap]
rs10792118	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896644	0.85[ASW][hapmap];0.83[MEX][hapmap];0.84[YRI][hapmap]
rs11229170	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229171	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229172	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229173	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229183	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11512731	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11512732	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11570176	0.85[ASW][hapmap];0.84[YRI][hapmap]
rs11570181	0.85[ASW][hapmap];0.84[YRI][hapmap]
rs12366063	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420220	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1510418	0.81[EUR][1000 genomes]
rs17455422	0.85[ASW][hapmap];0.84[YRI][hapmap]
rs1848879	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34419144	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35241049	0.81[EUR][1000 genomes]
rs35994197	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4272798	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs588713	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs591322	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs593239	0.84[EUR][1000 genomes]
rs600488	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs602861	1.00[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs606731	0.87[EUR][1000 genomes]
rs615133	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs616911	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61905278	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs626043	0.83[EUR][1000 genomes]
rs633129	0.85[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs636388	0.84[EUR][1000 genomes]
rs652191	0.84[YRI][hapmap]
rs653889	0.85[ASW][hapmap];0.83[MEX][hapmap];0.84[YRI][hapmap]
rs6591443	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs662638	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs681397	0.89[EUR][1000 genomes]
rs7103977	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7106195	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7119973	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120868	0.85[ASW][hapmap];0.84[YRI][hapmap]
rs71484480	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7926999	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7943793	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4245215	UBE2L6	cis	parietal	SCAN
rs4245215	YPEL4	cis	lung	GTEx
rs4245215	TIMM10	cis	parietal	SCAN
rs4245215	OR4C6	cis	parietal	SCAN
rs4245215	MS4A2	cis	cerebellum	SCAN
rs4245215	OR4D11	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57713400-57713800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57713400-57713800	Enhancers	Lung	lung
3	chr11:57713400-57714200	Enhancers	Right Ventricle	heart
4	chr11:57713600-57713800	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links