Variant report

Variant	rs1055080
Chromosome Location	chr20:22562438-22562439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr20:22562266-22564509	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr20:22562229-22562848	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:22562119-22562703	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:22562268-22562714	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:22560241-22562821	HepG2	liver:	n/a	n/a
6	SUZ12	chr20:22562190-22564964	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr20:22562301-22562758	PANC-1	pancreas:	n/a	n/a
8	CTBP2	chr20:22562196-22566241	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr20:22561711-22562740	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22560956..22563425-chr7:98474991..98476982,2	MCF-7	breast:
2	chr20:22554317..22556878-chr20:22561065..22563587,2	MCF-7	breast:

Variant related genes	Relation type
LINC00261	TF binding region
ENSG00000196367	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1203884	0.89[GIH][hapmap];0.87[TSI][hapmap]
rs1203895	0.84[EUR][1000 genomes]
rs1203896	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1203898	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1203899	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203902	0.90[ASN][1000 genomes]
rs1203905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203910	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203915	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1203918	0.86[ASN][1000 genomes]
rs1203919	0.85[ASN][1000 genomes]
rs1209523	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337918	0.88[EUR][1000 genomes]
rs1337919	1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1337920	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1337921	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1800847	0.84[EUR][1000 genomes]
rs1974	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2277764	0.90[EUR][1000 genomes]
rs6036152	0.82[EUR][1000 genomes]
rs6048202	0.80[EUR][1000 genomes]
rs6048205	0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6048206	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048209	1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs6113722	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72470563	0.81[ASN][1000 genomes]
rs8123991	0.86[EUR][1000 genomes]
rs910958	0.85[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22560600-22563400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr20:22561400-22563400	Transcr. at gene 5' and 3'	A549	lung
4	chr20:22561600-22566400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr20:22561800-22563000	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr20:22562200-22562600	Active TSS	Stomach Mucosa	stomach
7	chr20:22562200-22562800	Flanking Active TSS	Liver	Liver
8	chr20:22562200-22562800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
9	chr20:22562200-22563400	Transcr. at gene 5' and 3'	HepG2	liver
10	chr20:22562200-22563800	Transcr. at gene 5' and 3'	Pancreas	Pancrea
11	chr20:22562400-22562800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr20:22562400-22562800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:22562400-22563000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr20:22562400-22563200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:22562400-22563200	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr20:22562400-22563200	Transcr. at gene 5' and 3'	Lung	lung
17	chr20:22562400-22563800	Transcr. at gene 5' and 3'	Gastric	stomach
18	chr20:22562400-22564200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr20:22562400-22564400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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