Variant report

Variant	rs11953146
Chromosome Location	chr5:61489180-61489181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11748930	0.91[CEU][hapmap]
rs12653369	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs12657535	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs12659777	0.87[CEU][hapmap]
rs1508893	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs152189	0.87[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs15807	0.87[CEU][hapmap];0.85[GIH][hapmap]
rs16890606	0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs1812798	0.80[EUR][1000 genomes]
rs1960456	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2017818	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2910474	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2910476	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2940579	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2940586	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2940591	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2961836	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2961837	0.87[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2962027	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2962030	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35009	0.86[CEU][hapmap]
rs35015	0.83[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap]
rs35016	0.87[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs4235491	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4498216	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4700472	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55947343	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6871913	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs6882514	0.91[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs6886044	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs6894270	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs7711530	0.82[CEU][hapmap]
rs7712470	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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 target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11953146	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61488200-61489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links