Variant report

Variant	rs3126082
Chromosome Location	chr1:152287307-152287308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1858481	0.91[AMR][1000 genomes]
rs3120646	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3120647	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3120648	0.81[AMR][1000 genomes]
rs3120649	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3120655	0.91[AMR][1000 genomes]
rs3120656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3120657	0.81[AMR][1000 genomes]
rs3120658	0.81[AMR][1000 genomes]
rs3126064	0.81[AMR][1000 genomes]
rs3126065	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3126087	0.91[AMR][1000 genomes]
rs3126090	0.84[AMR][1000 genomes]
rs3126093	0.84[AMR][1000 genomes]
rs3134871	0.91[AMR][1000 genomes]
rs3134872	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3134873	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv18892	chr1:152274215-152287539	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
2	chr1:152285200-152297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152285400-152287800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:152285400-152288600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:152286000-152287600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:152286200-152289200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:152286400-152288000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:152286600-152322200	Weak transcription	Ovary	ovary
9	chr1:152287000-152291400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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