Variant report

Variant	rs730409
Chromosome Location	chr20:22791563-22791564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11087400	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11087401	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11907115	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207170	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815148	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048361	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048364	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048372	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6082846	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6082852	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082855	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082860	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs742850	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs932467	0.96[EUR][1000 genomes];0.88[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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv3334	chr20:22773462-22818362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22785800-22793200	Enhancers	Stomach Mucosa	stomach
2	chr20:22786400-22796600	Weak transcription	HSMMtube	muscle
3	chr20:22787400-22792800	Enhancers	Fetal Muscle Leg	muscle
4	chr20:22789200-22791800	Weak transcription	A549	lung
5	chr20:22789800-22792400	Enhancers	Fetal Muscle Trunk	muscle
6	chr20:22790200-22792600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:22790200-22795600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:22790600-22793200	Enhancers	Lung	lung
9	chr20:22791000-22791800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr20:22791000-22792400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:22791000-22792600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:22791200-22792400	Enhancers	Placenta	Placenta
13	chr20:22791200-22792400	Enhancers	Gastric	stomach
14	chr20:22791200-22792600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:22791400-22791600	Enhancers	Spleen	Spleen
16	chr20:22791400-22791800	Enhancers	Pancreas	Pancrea
17	chr20:22791400-22792000	Enhancers	HMEC	breast

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

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