Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10506219	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181672	0.85[EUR][1000 genomes]
rs11181674	0.85[EUR][1000 genomes]
rs11181675	0.83[EUR][1000 genomes]
rs11181676	0.84[EUR][1000 genomes]
rs11181677	0.84[EUR][1000 genomes]
rs11181678	0.83[TSI][hapmap]
rs11181680	0.84[TSI][hapmap]
rs11833302	0.91[EUR][1000 genomes]
rs12311080	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313884	0.85[EUR][1000 genomes]
rs12319782	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1356422	0.84[EUR][1000 genomes]
rs1607251	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468330	0.99[ASN][1000 genomes]
rs2897590	0.86[CEU][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs57284063	0.85[EUR][1000 genomes]
rs61924560	0.83[EUR][1000 genomes]
rs7137412	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7954424	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963631	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977054	0.90[EUR][1000 genomes]
rs868765	0.85[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7953873	NELL2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43185200-43193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:43185400-43192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:43185400-43192200	Weak transcription	HSMMtube	muscle
4	chr12:43188000-43188600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:43188000-43189200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:43188000-43189200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:43188000-43189200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:43188000-43189200	Enhancers	NHDF-Ad	bronchial
9	chr12:43188200-43188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:43188200-43188600	Weak transcription	HSMM	muscle
11	chr12:43188200-43189000	Enhancers	Fetal Heart	heart
12	chr12:43188200-43189000	Enhancers	A549	lung
13	chr12:43188200-43189000	Enhancers	HMEC	breast
14	chr12:43188200-43189200	Enhancers	Osteobl	bone
15	chr12:43188400-43189000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:43188400-43189000	Enhancers	NH-A	brain
17	chr12:43188400-43189200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

Quick Search: