Variant report

Variant	rs2070275
Chromosome Location	chr20:24077245-24077246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005527	0.84[ASN][1000 genomes]
rs1012783	0.98[ASN][1000 genomes]
rs11697353	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11699743	0.81[ASN][1000 genomes]
rs12480224	0.81[ASN][1000 genomes]
rs1573008	0.90[ASN][1000 genomes]
rs17249809	0.83[ASN][1000 genomes]
rs1884519	0.95[ASN][1000 genomes]
rs2103922	0.90[ASN][1000 genomes]
rs35663453	0.80[ASN][1000 genomes]
rs55921601	0.99[ASN][1000 genomes]
rs6132695	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6132696	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6138201	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6138207	0.95[ASN][1000 genomes]
rs6138210	0.95[ASN][1000 genomes]
rs61657263	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1056491	chr20:23955040-24105080	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24075000-24078400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:24075000-24081000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr20:24075400-24077400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:24076000-24078000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:24076200-24078200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:24076200-24082800	Weak transcription	HMEC	breast
7	chr20:24076400-24077800	Weak transcription	Spleen	Spleen
8	chr20:24076600-24079200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:24076800-24077600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:24076800-24078000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr20:24076800-24078800	Enhancers	Placenta	Placenta
12	chr20:24077000-24077400	Enhancers	Pancreas	Pancrea
13	chr20:24077000-24079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:24077000-24079200	Weak transcription	NHEK	skin
15	chr20:24077200-24077800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr20:24077200-24077800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:24077200-24078000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr20:24077200-24079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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