Variant report

Variant	rs6048206
Chromosome Location	chr20:22561382-22561383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr20:22560678-22561625	HepG2	liver:	n/a	n/a
2	BCL3	chr20:22560219-22561430	A549	lung:	n/a	n/a
3	HEY1	chr20:22560360-22561608	HepG2	liver:	n/a	n/a
4	MBD4	chr20:22560319-22561987	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:22560241-22562821	HepG2	liver:	n/a	n/a
6	POLR2A	chr20:22559127-22561986	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:22560339-22562149	HepG2	liver:	n/a	n/a
8	POLR2A	chr20:22560316-22561511	HepG2	liver:	n/a	n/a
9	SUZ12	chr20:22556202-22561602	NT2-D1	testis:	n/a	n/a
10	POLR2A	chr20:22559892-22561492	PANC-1	pancreas:	n/a	n/a
11	MBD4	chr20:22560307-22561593	HepG2	liver:	n/a	n/a
12	FOSL2	chr20:22560273-22561389	HepG2	liver:	n/a	n/a
13	BCL3	chr20:22560096-22561603	A549	lung:	n/a	chr20:22560208-22560221
14	POLR2A	chr20:22560333-22561993	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:22558301-22561412	PANC-1	pancreas:	n/a	n/a
16	NFIC	chr20:22560555-22561411	HepG2	liver:	n/a	n/a
17	POLR2A	chr20:22560456-22562225	K562	blood:	n/a	n/a
18	POLR2A	chr20:22560284-22561692	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1055080	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]
rs11087388	0.84[EUR][1000 genomes]
rs1203884	0.87[TSI][hapmap]
rs1203895	0.83[EUR][1000 genomes]
rs1203896	0.81[AMR][1000 genomes]
rs1203898	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1203899	0.83[EUR][1000 genomes]
rs1203905	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1203907	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1203910	0.88[EUR][1000 genomes]
rs1209523	0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs1337918	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1337919	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1800847	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1974	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277764	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815127	0.93[TSI][hapmap]
rs6036152	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048184	0.82[EUR][1000 genomes]
rs6048197	0.84[EUR][1000 genomes]
rs6048199	0.84[EUR][1000 genomes]
rs6048200	0.84[EUR][1000 genomes]
rs6048202	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048205	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048209	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs6113722	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72470563	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300990	0.84[EUR][1000 genomes]
rs73300991	0.81[ASN][1000 genomes]
rs73300993	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8123991	0.83[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22559200-22562200	Weak transcription	Gastric	stomach
2	chr20:22560200-22561400	Genic enhancers	A549	lung
3	chr20:22560600-22563400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22560800-22561400	Flanking Active TSS	Liver	Liver
5	chr20:22560800-22561600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr20:22560800-22562200	Genic enhancers	HepG2	liver
7	chr20:22561000-22561600	Enhancers	Stomach Mucosa	stomach
8	chr20:22561200-22561400	Enhancers	Pancreas	Pancrea
9	chr20:22561200-22561600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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