Variant report

Variant	rs12528130
Chromosome Location	chr6:39486048-39486049
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	chr6:39481932..39484239-chr6:39485790..39487293,2	K562	blood:
2	chr6:39485932..39488385-chr6:39492203..39494440,2	K562	blood:

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

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

rs_ID	r²[population]
rs10484823	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10947815	0.81[CEU][hapmap]
rs11751847	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752175	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752438	0.82[ASN][1000 genomes]
rs11754807	0.82[ASN][1000 genomes]
rs11754808	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755434	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757080	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758868	1.00[CEU][hapmap]
rs11759743	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200342	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209820	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs13213322	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213488	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536700	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34081723	0.96[EUR][1000 genomes]
rs34720944	0.98[EUR][1000 genomes]
rs35516457	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4714258	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4714261	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs55749620	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56713174	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56951565	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6458119	0.94[EUR][1000 genomes]
rs6901155	0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6905995	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6913556	0.96[EUR][1000 genomes]
rs6927837	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928195	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942056	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571377	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73732127	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73732138	0.97[EUR][1000 genomes]
rs73732153	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7751353	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs7751706	0.94[EUR][1000 genomes]
rs7751942	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754249	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771470	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774528	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296301	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9380876	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9471123	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9471124	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9471129	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885822	chr6:39327708-39721216	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv885823	chr6:39421715-39526867	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39481200-39489800	Weak transcription	Pancreas	Pancrea
2	chr6:39484600-39486200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:39485000-39486200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:39485000-39493200	Enhancers	Fetal Lung	lung
5	chr6:39485200-39486200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:39485200-39486200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:39485200-39486200	Enhancers	Stomach Smooth Muscle	stomach
8	chr6:39485200-39486200	Enhancers	NHDF-Ad	bronchial
9	chr6:39485400-39486200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:39485600-39486200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:39485600-39486200	Enhancers	Colon Smooth Muscle	Colon
12	chr6:39485800-39486200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:39486000-39486200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:39486000-39486200	Enhancers	NH-A	brain
15	chr6:39486000-39486600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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