Variant report

Variant	rs12527248
Chromosome Location	chr6:119747598-119747599
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119730170..119732878-chr6:119745962..119749242,4	K562	blood:
2	chr6:119746548..119748341-chr6:119750350..119752791,2	MCF-7	breast:
3	chr6:119745246..119748327-chr6:119749609..119753522,3	K562	blood:
4	chr6:119730819..119732878-chr6:119745962..119748059,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10457355	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs10485001	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11153800	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs11153805	0.80[CEU][hapmap]
rs11751945	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs11755967	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11759899	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11962938	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs12199883	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200554	0.81[ASN][1000 genomes]
rs12205826	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs12206472	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12524617	0.81[ASN][1000 genomes]
rs12527126	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1295383	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295384	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295388	0.81[ASN][1000 genomes]
rs1797067	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092218	0.81[ASN][1000 genomes]
rs2144236	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35305935	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607463	0.81[ASN][1000 genomes]
rs6569057	0.81[ASN][1000 genomes]
rs6569072	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs6569076	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918913	1.00[CHB][hapmap]
rs6920832	0.81[ASN][1000 genomes]
rs6932241	0.81[ASN][1000 genomes]
rs6932292	0.81[ASN][1000 genomes]
rs6935126	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6936790	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73529045	0.81[ASN][1000 genomes]
rs73529086	0.81[ASN][1000 genomes]
rs7745295	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745633	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754482	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7767198	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs926859	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs9320689	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9320690	0.82[EUR][1000 genomes]
rs9374795	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374796	0.82[EUR][1000 genomes]
rs9489697	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2754142	chr6:119717806-119748647	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1845804	chr6:119747112-119771715	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119746600-119747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:119747200-119747600	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr6:119747200-119748400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:119747400-119748400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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