Variant report

Variant	rs6049391
Chromosome Location	chr20:24078128-24078129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34097439	0.82[ASN][1000 genomes]
rs6036639	0.95[ASN][1000 genomes]
rs6036641	0.97[ASN][1000 genomes]
rs6036642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036647	0.93[ASN][1000 genomes]
rs6049384	0.92[ASN][1000 genomes]
rs6049385	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6049387	0.96[ASN][1000 genomes]
rs6049388	0.96[ASN][1000 genomes]
rs6049395	0.93[ASN][1000 genomes]
rs6114474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:14 , 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	chr20:24076200-24078200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:24076200-24082800	Weak transcription	HMEC	breast
5	chr20:24076600-24079200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:24076800-24078800	Enhancers	Placenta	Placenta
7	chr20:24077000-24079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:24077000-24079200	Weak transcription	NHEK	skin
9	chr20:24077200-24079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:24077400-24079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:24077400-24081200	Weak transcription	Pancreas	Pancrea
12	chr20:24077800-24082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr20:24078000-24079400	Weak transcription	Ovary	ovary
14	chr20:24078000-24081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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