Variant report

Variant	rs11682379
Chromosome Location	chr2:145693921-145693922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10928235	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11674165	0.80[AMR][1000 genomes]
rs11680871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11684042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12151653	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1371044	0.93[EUR][1000 genomes]
rs1438898	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17407658	0.86[ASN][1000 genomes]
rs17479393	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55944332	0.89[EUR][1000 genomes]
rs58117425	0.92[EUR][1000 genomes]
rs72854415	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72854416	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72854449	0.82[ASN][1000 genomes]
rs72854462	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72854464	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9646682	0.80[AMR][1000 genomes];0.82[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145668800-145695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145692800-145695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145692800-145695600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:145692800-145696600	Enhancers	Fetal Kidney	kidney
7	chr2:145693200-145694000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:145693200-145694200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:145693200-145694200	Weak transcription	Fetal Lung	lung
10	chr2:145693400-145695200	Weak transcription	Right Atrium	heart
11	chr2:145693600-145694800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:145693600-145695200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:145693600-145695200	Enhancers	NHDF-Ad	bronchial
14	chr2:145693600-145695600	Enhancers	Osteobl	bone
15	chr2:145693600-145695800	Enhancers	Ovary	ovary
16	chr2:145693800-145696000	Weak transcription	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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