Variant report

Variant	rs6048202
Chromosome Location	chr20:22552006-22552007
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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1055080	0.80[EUR][1000 genomes]
rs11087387	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11087388	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1203868	0.82[EUR][1000 genomes]
rs1203873	0.82[EUR][1000 genomes]
rs1203875	0.82[EUR][1000 genomes]
rs1203876	0.82[EUR][1000 genomes]
rs1203877	0.82[EUR][1000 genomes]
rs1203879	0.82[EUR][1000 genomes]
rs1203880	0.82[EUR][1000 genomes]
rs1203881	0.82[EUR][1000 genomes]
rs1203883	0.82[EUR][1000 genomes]
rs1203884	0.82[EUR][1000 genomes]
rs1203886	0.82[EUR][1000 genomes]
rs1203889	0.82[EUR][1000 genomes]
rs1203892	0.84[EUR][1000 genomes]
rs1203894	0.84[EUR][1000 genomes]
rs1203895	0.92[EUR][1000 genomes]
rs1203896	0.86[EUR][1000 genomes]
rs1203898	0.86[EUR][1000 genomes]
rs1203899	0.82[EUR][1000 genomes]
rs1203905	0.83[EUR][1000 genomes]
rs1203907	0.84[EUR][1000 genomes]
rs1203910	0.81[EUR][1000 genomes]
rs1337919	0.81[EUR][1000 genomes]
rs1974	0.84[EUR][1000 genomes]
rs2277762	0.87[EUR][1000 genomes]
rs2277763	0.87[EUR][1000 genomes]
rs2277764	0.81[EUR][1000 genomes]
rs2471	0.82[EUR][1000 genomes]
rs4815127	0.87[EUR][1000 genomes]
rs6036145	0.92[EUR][1000 genomes]
rs6036146	0.87[EUR][1000 genomes]
rs6036152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048183	0.87[EUR][1000 genomes]
rs6048184	0.96[EUR][1000 genomes]
rs6048186	0.84[EUR][1000 genomes]
rs6048191	0.87[EUR][1000 genomes]
rs6048192	0.87[EUR][1000 genomes]
rs6048196	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6048197	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048199	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048200	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048205	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6048206	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6113722	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72470563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73300990	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73300991	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73300993	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8123991	0.81[EUR][1000 genomes]
rs932560	0.84[EUR][1000 genomes]
rs945982	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:25 , 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	chr20:22550400-22552800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr20:22550600-22552600	Enhancers	A549	lung
5	chr20:22550800-22555600	Genic enhancers	HepG2	liver
6	chr20:22551000-22552800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr20:22551000-22553000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr20:22551400-22553800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr20:22551600-22552200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:22551600-22552400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr20:22551600-22553200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
12	chr20:22551600-22553600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:22551600-22554200	Enhancers	Pancreas	Pancrea
14	chr20:22551800-22552200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:22551800-22552400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:22551800-22552800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr20:22551800-22553400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:22551800-22553800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr20:22552000-22552200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr20:22552000-22552200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr20:22552000-22552200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:22552000-22552200	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr20:22552000-22552200	Flanking Active TSS	K562	blood
24	chr20:22552000-22555000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:22552000-22558200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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