Variant report

Variant	rs73300993
Chromosome Location	chr20:22551503-22551504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22423238..22424747-chr20:22550793..22553587,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11087387	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11087388	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1203868	0.84[EUR][1000 genomes]
rs1203873	0.84[EUR][1000 genomes]
rs1203875	0.84[EUR][1000 genomes]
rs1203876	0.84[EUR][1000 genomes]
rs1203877	0.84[EUR][1000 genomes]
rs1203879	0.84[EUR][1000 genomes]
rs1203880	0.84[EUR][1000 genomes]
rs1203881	0.84[EUR][1000 genomes]
rs1203883	0.84[EUR][1000 genomes]
rs1203884	0.84[EUR][1000 genomes]
rs1203886	0.84[EUR][1000 genomes]
rs1203889	0.84[EUR][1000 genomes]
rs1203892	0.85[EUR][1000 genomes]
rs1203894	0.85[EUR][1000 genomes]
rs1203895	0.94[EUR][1000 genomes]
rs1203896	0.88[EUR][1000 genomes]
rs1203898	0.85[EUR][1000 genomes]
rs1203905	0.81[EUR][1000 genomes]
rs1203907	0.83[EUR][1000 genomes]
rs1974	0.82[EUR][1000 genomes]
rs2277762	0.89[EUR][1000 genomes]
rs2277763	0.89[EUR][1000 genomes]
rs2471	0.84[EUR][1000 genomes]
rs4815127	0.89[EUR][1000 genomes]
rs6036145	0.94[EUR][1000 genomes]
rs6036146	0.89[EUR][1000 genomes]
rs6036152	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048183	0.89[EUR][1000 genomes]
rs6048184	0.98[EUR][1000 genomes]
rs6048186	0.85[EUR][1000 genomes]
rs6048191	0.89[EUR][1000 genomes]
rs6048192	0.89[EUR][1000 genomes]
rs6048196	0.89[EUR][1000 genomes]
rs6048197	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048199	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048200	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048202	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048205	0.81[ASN][1000 genomes]
rs6048206	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6113722	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72470563	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73300990	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73300991	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932560	0.85[EUR][1000 genomes]
rs945982	0.88[EUR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22549400-22555200	Enhancers	Liver	Liver
2	chr20:22549600-22553000	Weak transcription	Gastric	stomach
3	chr20:22550000-22551600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr20:22550000-22551600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr20:22550200-22551600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr20:22550400-22551600	Enhancers	Stomach Mucosa	stomach
7	chr20:22550400-22552800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr20:22550600-22552600	Enhancers	A549	lung
9	chr20:22550800-22551600	Weak transcription	Pancreas	Pancrea
10	chr20:22550800-22555600	Genic enhancers	HepG2	liver
11	chr20:22551000-22552800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr20:22551000-22553000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr20:22551200-22552000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:22551400-22552000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:22551400-22552000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr20:22551400-22552000	Enhancers	K562	blood
17	chr20:22551400-22553800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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