Variant report

Variant	rs2079278
Chromosome Location	chr20:52436634-52436635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16998468	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34193630	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34219895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35479532	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36094779	0.80[EUR][1000 genomes]
rs6022784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6097591	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52431600-52439400	Weak transcription	A549	lung
3	chr20:52435400-52442200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr20:52436000-52436800	Enhancers	HepG2	liver
5	chr20:52436000-52437200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:52436000-52439400	Weak transcription	Thymus	Thymus
7	chr20:52436200-52437000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:52436200-52437000	Enhancers	NHEK	skin
9	chr20:52436200-52437200	Enhancers	HMEC	breast
10	chr20:52436200-52437400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:52436400-52437000	Enhancers	Liver	Liver
12	chr20:52436400-52437600	Enhancers	Pancreas	Pancrea
13	chr20:52436600-52437000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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

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