Variant report

Variant	rs6113722
Chromosome Location	chr20:22557099-22557100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1055080	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11087387	0.81[EUR][1000 genomes]
rs11087388	0.90[EUR][1000 genomes]
rs1203884	0.87[TSI][hapmap]
rs1203895	0.84[EUR][1000 genomes]
rs1203898	0.90[EUR][1000 genomes]
rs1203899	0.85[EUR][1000 genomes]
rs1203905	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1203907	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1203910	0.85[EUR][1000 genomes]
rs1209523	0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs1337918	0.83[ASN][1000 genomes]
rs1337919	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1800847	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1974	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2277764	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815127	1.00[GIH][hapmap];0.93[TSI][hapmap]
rs6036145	0.84[EUR][1000 genomes]
rs6036152	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048184	0.88[EUR][1000 genomes]
rs6048197	0.90[EUR][1000 genomes]
rs6048199	0.90[EUR][1000 genomes]
rs6048200	0.90[EUR][1000 genomes]
rs6048202	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048205	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048209	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs72470563	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73300990	0.90[EUR][1000 genomes]
rs73300991	0.82[ASN][1000 genomes]
rs73300993	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8123991	0.81[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22552000-22558200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr20:22555200-22557400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr20:22555200-22557400	Flanking Active TSS	Liver	Liver
4	chr20:22555200-22557400	Enhancers	A549	lung
5	chr20:22555200-22558600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr20:22555200-22560400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr20:22555400-22558800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr20:22555400-22559200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:22555600-22557200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:22555600-22558200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:22555600-22559200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:22555600-22559200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:22555800-22557400	Bivalent Enhancer	Primary T cells from cord blood	blood
14	chr20:22555800-22557400	Flanking Active TSS	HepG2	liver
15	chr20:22556200-22557200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr20:22556200-22557800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr20:22556400-22557400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr20:22556400-22557400	ZNF genes & repeats	GM12878-XiMat	blood
19	chr20:22556600-22558000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr20:22556800-22557200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr20:22556800-22558000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr20:22556800-22559200	Active TSS	Gastric	stomach
23	chr20:22556800-22559400	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr20:22556800-22560800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr20:22557000-22557200	Active TSS	Pancreas	Pancrea
26	chr20:22557000-22557200	Active TSS	Stomach Mucosa	stomach
27	chr20:22557000-22558400	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr20:22557000-22559200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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