Variant report

Variant	rs520523
Chromosome Location	chr11:74024586-74024587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10488770	1.00[CEU][hapmap]
rs10501413	1.00[CEU][hapmap]
rs10501414	1.00[CEU][hapmap]
rs11236050	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11236051	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11823967	1.00[CEU][hapmap]
rs17132796	1.00[CEU][hapmap]
rs17132801	1.00[CEU][hapmap]
rs17132816	1.00[CEU][hapmap]
rs17132818	1.00[CEU][hapmap]
rs17132826	1.00[CEU][hapmap]
rs17132836	1.00[CEU][hapmap]
rs17132837	1.00[CEU][hapmap]
rs17132855	1.00[CEU][hapmap]
rs17132864	1.00[CEU][hapmap]
rs17132870	1.00[CEU][hapmap]
rs17132881	1.00[CEU][hapmap]
rs17132882	1.00[CEU][hapmap]
rs17160052	1.00[CEU][hapmap]
rs2509527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3897548	1.00[CEU][hapmap]
rs4489773	1.00[CEU][hapmap]
rs4575301	1.00[CEU][hapmap]
rs518268	1.00[EUR][1000 genomes]
rs528900	1.00[CEU][hapmap]
rs531902	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs560814	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs560988	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs600145	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs617184	1.00[EUR][1000 genomes]
rs640907	1.00[EUR][1000 genomes]
rs644421	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655333	1.00[EUR][1000 genomes]
rs6592549	1.00[CEU][hapmap]
rs6592550	1.00[CEU][hapmap]
rs670974	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106817	1.00[CEU][hapmap]
rs7110062	1.00[CEU][hapmap]
rs7113898	1.00[CEU][hapmap]
rs7127358	1.00[CEU][hapmap]
rs7129659	1.00[CEU][hapmap]
rs7129774	1.00[CEU][hapmap]
rs7924965	1.00[CEU][hapmap]
rs7925320	1.00[CEU][hapmap]
rs7925695	1.00[CEU][hapmap]
rs7926891	1.00[CEU][hapmap]
rs7931935	1.00[CEU][hapmap]
rs7947458	1.00[CEU][hapmap]
rs947840	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	83 gene(s)	inside rSNPs	diseases
6	esv3462630	chr11:74022904-74029002	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3521454	chr11:74023704-74028502	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1806720	chr11:74024257-74026988	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	esv1810557	chr11:74024257-74026988	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	esv1813317	chr11:74024257-74026988	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	esv1848404	chr11:74024257-74026988	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	esv1848754	chr11:74024257-74026988	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv1851728	chr11:74024257-74026988	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	esv3462619	chr11:74024484-74027749	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	nsv555413	chr11:74024586-74026988	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74023000-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:74023200-74027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:74023200-74036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:74023400-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:74023600-74027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:74024400-74024600	Enhancers	Primary T cells from cord blood	blood

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