Variant report

Variant	rs1203907
Chromosome Location	chr20:22560971-22560972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr20:22560933-22561215	HepG2	liver:	n/a	n/a
2	MYBL2	chr20:22560678-22561625	HepG2	liver:	n/a	n/a
3	BCL3	chr20:22560219-22561430	A549	lung:	n/a	n/a
4	JUND	chr20:22560941-22561324	A549	lung:	n/a	n/a
5	POLR2A	chr20:22560952-22561147	A549	lung:	n/a	n/a
6	POLR2A	chr20:22560867-22561263	A549	lung:	n/a	n/a
7	HEY1	chr20:22560360-22561608	HepG2	liver:	n/a	n/a
8	MBD4	chr20:22560319-22561987	HepG2	liver:	n/a	n/a
9	MAFK	chr20:22560604-22561055	HepG2	liver:	n/a	n/a
10	JUND	chr20:22560907-22561319	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:22560241-22562821	HepG2	liver:	n/a	n/a
12	TCF12	chr20:22560221-22561355	A549	lung:	n/a	n/a
13	RAD21	chr20:22560862-22561144	HepG2	liver:	n/a	n/a
14	POLR2A	chr20:22559127-22561986	HepG2	liver:	n/a	n/a
15	ELF1	chr20:22560389-22561188	A549	lung:	n/a	n/a
16	POLR2A	chr20:22560339-22562149	HepG2	liver:	n/a	n/a
17	FOXA2	chr20:22560913-22561352	A549	lung:	n/a	n/a
18	POLR2A	chr20:22560316-22561511	HepG2	liver:	n/a	n/a
19	FOXA2	chr20:22560962-22561286	A549	lung:	n/a	n/a
20	SUZ12	chr20:22560362-22561226	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr20:22560943-22561111	A549	lung:	n/a	n/a
22	SUZ12	chr20:22556202-22561602	NT2-D1	testis:	n/a	n/a
23	POLR2A	chr20:22560902-22561338	HepG2	liver:	n/a	n/a
24	POLR2A	chr20:22559892-22561492	PANC-1	pancreas:	n/a	n/a
25	MBD4	chr20:22560307-22561593	HepG2	liver:	n/a	n/a
26	FOSL2	chr20:22560273-22561389	HepG2	liver:	n/a	n/a
27	BCL3	chr20:22560096-22561603	A549	lung:	n/a	chr20:22560208-22560221
28	POLR2A	chr20:22560333-22561993	HepG2	liver:	n/a	n/a
29	POLR2A	chr20:22560890-22561236	A549	lung:	n/a	n/a
30	POLR2A	chr20:22558301-22561412	PANC-1	pancreas:	n/a	n/a
31	FOXA1	chr20:22560886-22561270	HepG2	liver:	n/a	n/a
32	JUND	chr20:22560852-22561256	HepG2	liver:	n/a	n/a
33	NFIC	chr20:22560555-22561411	HepG2	liver:	n/a	n/a
34	FOXA1	chr20:22560808-22561325	HepG2	liver:	n/a	n/a
35	JUND	chr20:22560271-22561257	A549	lung:	n/a	n/a
36	POLR2A	chr20:22560456-22562225	K562	blood:	n/a	n/a
37	POLR2A	chr20:22560284-22561692	HepG2	liver:	n/a	n/a
38	CHD2	chr20:22560943-22561335	HepG2	liver:	n/a	n/a

No data

(count:1 , 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:

No data

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1055080	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]
rs11087388	0.83[EUR][1000 genomes]
rs1203884	0.94[GIH][hapmap];0.94[TSI][hapmap]
rs1203895	0.85[EUR][1000 genomes]
rs1203896	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1203898	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1203899	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1203902	0.93[ASN][1000 genomes]
rs1203905	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203910	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1203915	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1203918	0.82[ASN][1000 genomes]
rs1203919	0.81[ASN][1000 genomes]
rs1209523	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1337918	0.84[EUR][1000 genomes]
rs1337919	1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1337920	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1337921	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800847	0.80[EUR][1000 genomes]
rs1974	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2277764	0.86[EUR][1000 genomes]
rs4815127	0.87[TSI][hapmap]
rs6036152	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048184	0.81[EUR][1000 genomes]
rs6048197	0.83[EUR][1000 genomes]
rs6048199	0.83[EUR][1000 genomes]
rs6048200	0.83[EUR][1000 genomes]
rs6048202	0.84[EUR][1000 genomes]
rs6048205	0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048206	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]
rs6048209	1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs6113722	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72470563	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73300990	0.83[EUR][1000 genomes]
rs73300993	0.83[EUR][1000 genomes]
rs8123991	0.82[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22559200-22562200	Weak transcription	Gastric	stomach
2	chr20:22560000-22561200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:22560200-22561400	Genic enhancers	A549	lung
4	chr20:22560400-22561000	Bivalent Enhancer	Fetal Lung	lung
5	chr20:22560400-22561000	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr20:22560400-22561200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr20:22560400-22561200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:22560600-22561200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr20:22560600-22561200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr20:22560600-22561200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:22560600-22561200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
12	chr20:22560600-22563400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:22560800-22561200	Flanking Active TSS	Pancreas	Pancrea
14	chr20:22560800-22561400	Flanking Active TSS	Liver	Liver
15	chr20:22560800-22561600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr20:22560800-22562200	Genic enhancers	HepG2	liver

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