Variant report

Variant	rs293970
Chromosome Location	chr11:26593342-26593343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:26593210-26593516	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MUC15	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10501057	1.00[CHB][hapmap]
rs11029601	1.00[CHB][hapmap]
rs11029604	1.00[CHB][hapmap]
rs11029605	1.00[CHB][hapmap]
rs11029609	1.00[CHB][hapmap]
rs11029610	1.00[CHB][hapmap]
rs11029611	1.00[CHB][hapmap]
rs11029615	1.00[CHB][hapmap]
rs12271337	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs12279543	1.00[CHB][hapmap]
rs12282977	1.00[CHB][hapmap]
rs1690067	1.00[CHB][hapmap]
rs172415	1.00[CHB][hapmap]
rs188389	1.00[CHB][hapmap]
rs293955	1.00[CHB][hapmap]
rs293971	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs293985	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs293986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs293998	1.00[CHB][hapmap]
rs380170	1.00[CHB][hapmap]
rs381229	1.00[CHB][hapmap]
rs415390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs446946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs724203	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051211	chr11:26473131-26604553	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv467778	chr11:26485520-26603926	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv553899	chr11:26485520-26603926	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv521916	chr11:26485520-26605331	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1044544	chr11:26506962-26967285	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1050121	chr11:26532655-26675303	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv540974	chr11:26532655-26675303	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr11:26565000-26599200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:26591200-26593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:26592600-26593400	Active TSS	Placenta	Placenta
4	chr11:26592800-26593400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:26593200-26593400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:26593200-26593400	Enhancers	NHEK	skin

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