Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10506219	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181672	0.84[EUR][1000 genomes]
rs11181674	0.84[EUR][1000 genomes]
rs11181675	0.82[EUR][1000 genomes]
rs11181676	0.85[EUR][1000 genomes]
rs11181677	0.85[EUR][1000 genomes]
rs11833302	0.90[EUR][1000 genomes]
rs12311080	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313884	0.84[EUR][1000 genomes]
rs12319782	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1356422	0.83[EUR][1000 genomes]
rs1607251	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468330	0.99[ASN][1000 genomes]
rs2897590	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs57284063	0.84[EUR][1000 genomes]
rs61924560	0.82[EUR][1000 genomes]
rs7137412	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953873	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7954424	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977054	0.90[EUR][1000 genomes]
rs868765	0.84[EUR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43185200-43188000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:43185200-43188000	Weak transcription	Placenta	Placenta
3	chr12:43185200-43188000	Weak transcription	HSMM	muscle
4	chr12:43185200-43188000	Weak transcription	NHDF-Ad	bronchial
5	chr12:43185200-43188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:43185200-43188400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:43185200-43188400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:43185200-43193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:43185400-43188000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:43185400-43188000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:43185400-43188000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:43185400-43188200	Weak transcription	Fetal Heart	heart
13	chr12:43185400-43188200	Weak transcription	A549	lung
14	chr12:43185400-43188200	Weak transcription	HMEC	breast
15	chr12:43185400-43188200	Weak transcription	Osteobl	bone
16	chr12:43185400-43188400	Weak transcription	NH-A	brain
17	chr12:43185400-43192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:43185400-43192200	Weak transcription	HSMMtube	muscle

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