Variant report

Variant	rs9283451
Chromosome Location	chr2:134476482-134476483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1110673	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12472557	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12474261	0.95[ASN][1000 genomes]
rs1348838	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1901444	0.81[ASN][1000 genomes]
rs2321203	0.93[ASN][1000 genomes]
rs2321298	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2321301	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3936142	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4270397	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4343520	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4467329	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505578	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4547575	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549152	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4553871	0.95[ASN][1000 genomes]
rs4558640	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560170	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414015	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6430443	0.81[ASN][1000 genomes]
rs6430446	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6430447	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6726492	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743076	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752406	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749825	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7558993	0.94[ASN][1000 genomes]
rs7571025	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7580128	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586665	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7595524	0.94[ASN][1000 genomes]
rs7598780	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7605721	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134468000-134477200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134474600-134476800	Enhancers	NHEK	skin
3	chr2:134474600-134477000	Enhancers	NHDF-Ad	bronchial
4	chr2:134474800-134477000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:134474800-134477400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:134474800-134478000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:134474800-134478000	Enhancers	Osteobl	bone
8	chr2:134475000-134476600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:134475000-134478000	Enhancers	NH-A	brain
10	chr2:134475200-134477200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:134475400-134477000	Enhancers	Brain Substantia Nigra	brain
12	chr2:134475600-134476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:134475600-134476800	Enhancers	Brain Anterior Caudate	brain
14	chr2:134475600-134476800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:134475600-134477000	Enhancers	Brain Angular Gyrus	brain
16	chr2:134475800-134478000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:134475800-134484600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:134476200-134476600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:134476200-134476600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr2:134476200-134477000	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:134476200-134477600	Enhancers	NHLF	lung
22	chr2:134476200-134479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:134476400-134476800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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