Variant report

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10190420	0.92[AMR][1000 genomes]
rs11681712	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11683026	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2233375	0.80[AMR][1000 genomes]
rs2233382	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2233394	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9653384	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876011	chr2:233809244-233912755	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233888400-233900200	Weak transcription	Esophagus	oesophagus
3	chr2:233891600-233898200	Weak transcription	NH-A	brain
4	chr2:233891600-233900200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:233892000-233898000	Weak transcription	NHEK	skin
6	chr2:233894800-233898200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:233895200-233898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:233896200-233897800	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:233896400-233898600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:233896400-233899000	Enhancers	HSMMtube	muscle
11	chr2:233896600-233898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:233897000-233899000	Enhancers	Osteobl	bone
13	chr2:233897200-233899000	Enhancers	HSMM	muscle
14	chr2:233897200-233899400	Enhancers	HMEC	breast
15	chr2:233897400-233899000	Enhancers	NHDF-Ad	bronchial
16	chr2:233897400-233899200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:233897400-233899400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:233897600-233899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:233897600-233900200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:233897800-233899200	Enhancers	Muscle Satellite Cultured Cells	--

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