Variant report

Variant	rs533636
Chromosome Location	chr11:120036267-120036268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
2	chr11:120035659..120037424-chr11:120037681..120040481,2	K562	blood:

Variant related genes	Relation type
ENSG00000176984	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1287393	0.85[CEU][hapmap]
rs2444240	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2444242	0.83[CEU][hapmap]
rs2508496	0.83[CEU][hapmap]
rs2845708	0.83[CEU][hapmap]
rs470370	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs470373	0.93[ASN][1000 genomes]
rs470645	1.00[JPT][hapmap]
rs470876	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs470941	0.87[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap]
rs471001	0.88[ASN][1000 genomes]
rs477863	0.83[CEU][hapmap]
rs488672	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4938790	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs521556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521841	0.83[CEU][hapmap]
rs528147	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs529657	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529681	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs531260	0.97[ASN][1000 genomes]
rs550164	0.87[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap]
rs561498	0.94[JPT][hapmap]
rs566935	0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs573211	0.97[ASN][1000 genomes]
rs605374	0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs670855	0.86[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs896691	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120031800-120039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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