Variant report

Variant	rs73300991
Chromosome Location	chr20:22551326-22551327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11087387	0.84[ASN][1000 genomes]
rs11087388	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1203895	0.80[EUR][1000 genomes]
rs6036145	0.84[EUR][1000 genomes]
rs6036152	0.83[ASN][1000 genomes]
rs6048184	0.84[EUR][1000 genomes]
rs6048197	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048199	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048200	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048202	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048205	0.81[ASN][1000 genomes]
rs6048206	0.81[ASN][1000 genomes]
rs6113722	0.82[ASN][1000 genomes]
rs72470563	0.81[ASN][1000 genomes]
rs73300990	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73300993	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3381101	chr20:22548552-22551550	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22549000-22551400	Weak transcription	K562	blood
2	chr20:22549400-22555200	Enhancers	Liver	Liver
3	chr20:22549600-22553000	Weak transcription	Gastric	stomach
4	chr20:22550000-22551600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr20:22550000-22551600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr20:22550200-22551600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr20:22550400-22551600	Enhancers	Stomach Mucosa	stomach
8	chr20:22550400-22552800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr20:22550600-22552600	Enhancers	A549	lung
10	chr20:22550800-22551600	Weak transcription	Pancreas	Pancrea
11	chr20:22550800-22555600	Genic enhancers	HepG2	liver
12	chr20:22551000-22552800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr20:22551000-22553000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr20:22551200-22551400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:22551200-22552000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm 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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