Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1040234	1.00[YRI][hapmap]
rs1040235	1.00[YRI][hapmap]
rs1073961	0.85[ASN][1000 genomes]
rs12467672	0.83[ASN][1000 genomes]
rs12469634	1.00[YRI][hapmap]
rs12996606	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13005105	1.00[AFR][1000 genomes]
rs13023827	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13026181	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13026867	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13028980	0.87[CEU][hapmap]
rs13034178	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1385426	0.87[ASN][1000 genomes]
rs1485118	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16829369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796622	1.00[YRI][hapmap]
rs34918650	0.83[ASN][1000 genomes]
rs35891175	0.90[AFR][1000 genomes]
rs4233673	0.83[ASN][1000 genomes]
rs6705511	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151906000-151910800	Enhancers	NHDF-Ad	bronchial
2	chr2:151906400-151912600	Weak transcription	NHLF	lung
3	chr2:151908600-151912600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:151908600-151912600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:151910000-151912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:151910400-151912800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:151910400-151919400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:151910600-151910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:151910600-151912000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:151910600-151912600	Weak transcription	Osteobl	bone
11	chr2:151910600-151912800	Weak transcription	NHEK	skin
12	chr2:151910600-151917000	Weak transcription	HMEC	breast
13	chr2:151910600-151919400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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