Variant report

Variant	rs12380505
Chromosome Location	chr9:21695893-21695894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10811582	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs10811584	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335498	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1335499	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1335500	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1335501	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1335505	0.81[JPT][hapmap]
rs1372057	0.81[JPT][hapmap]
rs1372058	0.80[JPT][hapmap]
rs1372059	0.81[JPT][hapmap]
rs1414232	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1414233	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1414234	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1414242	0.81[JPT][hapmap]
rs1414244	0.81[JPT][hapmap]
rs1452658	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1840050	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1889680	0.92[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2123338	0.94[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2167691	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2383202	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2891159	0.81[JPT][hapmap]
rs2891164	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2891165	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4352937	0.81[JPT][hapmap]
rs4428748	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4548267	0.81[JPT][hapmap]
rs4560881	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6475547	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6475548	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6475549	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6475550	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6475551	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6475552	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6475585	0.80[CHB][hapmap]
rs7039487	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7047136	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs751173	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7848524	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7857636	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7858959	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7867994	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7868091	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9298821	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9298822	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9298823	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv471290	chr9:21694038-21721939	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv892744	chr9:21694039-21746419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr9:21688400-21696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:21690600-21701200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:21695400-21696600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:21695400-21696800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:21695600-21696600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:21695800-21696600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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