Variant report

Variant	rs751090
Chromosome Location	chr20:52776739-52776740
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	ELF1	chr20:52776403-52777078	A549	lung:	n/a	n/a
2	PBX3	chr20:52776471-52778032	A549	lung:	n/a	n/a
3	POLR2A	chr20:52776605-52776782	A549	lung:	n/a	n/a
4	SIX5	chr20:52776173-52778883	A549	lung:	n/a	n/a
5	ZBTB33	chr20:52776413-52777180	A549	lung:	n/a	n/a
6	ETS1	chr20:52776418-52778792	A549	lung:	n/a	chr20:52777170-52777181
7	SP1	chr20:52776422-52778640	A549	lung:	n/a	n/a
8	GATA3	chr20:52776064-52785298	A549	lung:	n/a	chr20:52778354-52778363 chr20:52778722-52778732 chr20:52778722-52778731 chr20:52776796-52776806 chr20:52779429-52779436
9	BCL3	chr20:52776372-52780600	A549	lung:	n/a	n/a
10	EP300	chr20:52776353-52779260	A549	lung:	n/a	chr20:52778335-52778349 chr20:52776639-52776649
11	CTCF	chr20:52776689-52776741	GM13976	blood:	n/a	n/a
12	ATF3	chr20:52776184-52780419	A549	lung:	n/a	n/a
13	TCF12	chr20:52772200-52791801	A549	lung:	n/a	chr20:52790233-52790240 chr20:52786044-52786053 chr20:52779960-52779969 chr20:52790231-52790241
14	JUND	chr20:52776063-52777034	A549	lung:	n/a	n/a
15	POLR2A	chr20:52770188-52790693	A549	lung:	n/a	n/a
16	BCL3	chr20:52772170-52791941	A549	lung:	n/a	chr20:52790491-52790504 chr20:52782584-52782593 chr20:52784755-52784763 chr20:52790858-52790871 chr20:52790857-52790870 chr20:52782583-52782592
17	MAX	chr20:52776440-52777374	A549	lung:	n/a	chr20:52776994-52777003 chr20:52777345-52777353
18	CEBPB	chr20:52776118-52777104	A549	lung:	n/a	n/a
19	SP1	chr20:52776070-52780119	A549	lung:	n/a	n/a
20	SIN3AK20	chr20:52776456-52777581	A549	lung:	n/a	n/a
21	REST	chr20:52776534-52777043	A549	lung:	n/a	chr20:52776978-52776985
22	FOSL2	chr20:52776040-52778851	A549	lung:	n/a	n/a
23	TEAD4	chr20:52776089-52778766	A549	lung:	n/a	n/a
24	POLR2A	chr20:52776581-52776755	A549	lung:	n/a	n/a
25	ZBTB33	chr20:52776111-52776992	A549	lung:	n/a	n/a
26	REST	chr20:52776024-52780596	A549	lung:	n/a	chr20:52779089-52779102 chr20:52776978-52776985
27	MAX	chr20:52776354-52779331	A549	lung:	n/a	chr20:52776994-52777003 chr20:52777345-52777353
28	EP300	chr20:52776415-52778629	A549	lung:	n/a	chr20:52778335-52778349 chr20:52776639-52776649
29	FOXA2	chr20:52776386-52776933	A549	lung:	n/a	n/a
30	FOXA2	chr20:52776430-52777011	A549	lung:	n/a	n/a
31	USF1	chr20:52776137-52777021	A549	lung:	n/a	n/a
32	SIN3AK20	chr20:52776510-52778221	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56707725..56710299-chr20:52776284..52779199,4	MCF-7	breast:
2	chr20:52768317..52770399-chr20:52774857..52777374,2	K562	blood:

Variant related genes	Relation type
CYP24A1	TF binding region
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11905401	0.94[ASN][1000 genomes]
rs11906715	0.94[ASN][1000 genomes]
rs11907046	0.94[ASN][1000 genomes]
rs11907150	0.92[ASN][1000 genomes]
rs11907800	0.94[ASN][1000 genomes]
rs11907836	0.94[ASN][1000 genomes]
rs16999008	0.94[ASN][1000 genomes]
rs16999116	0.81[AMR][1000 genomes]
rs1870967	0.94[ASN][1000 genomes]
rs1886308	0.92[ASN][1000 genomes]
rs1977297	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2274131	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4809955	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4811492	0.86[ASN][1000 genomes]
rs4811493	0.94[ASN][1000 genomes]
rs55733210	0.94[ASN][1000 genomes]
rs56353101	0.94[ASN][1000 genomes]
rs57016987	0.94[ASN][1000 genomes]
rs57562389	0.94[ASN][1000 genomes]
rs57623780	0.89[ASN][1000 genomes]
rs57865579	0.94[ASN][1000 genomes]
rs58978141	0.94[ASN][1000 genomes]
rs59078348	0.94[ASN][1000 genomes]
rs59684245	0.94[ASN][1000 genomes]
rs60250398	0.94[ASN][1000 genomes]
rs6091819	0.94[ASN][1000 genomes]
rs6091820	0.94[ASN][1000 genomes]
rs6097780	0.93[ASN][1000 genomes]
rs6097782	0.89[ASN][1000 genomes]
rs6097783	0.94[ASN][1000 genomes]
rs6097784	0.94[ASN][1000 genomes]
rs6097785	0.94[ASN][1000 genomes]
rs6097790	0.94[ASN][1000 genomes]
rs6097791	0.94[ASN][1000 genomes]
rs6097792	0.94[ASN][1000 genomes]
rs6097793	0.94[ASN][1000 genomes]
rs6097794	0.94[ASN][1000 genomes]
rs6097796	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6097797	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6097801	0.97[ASN][1000 genomes]
rs62214481	0.94[ASN][1000 genomes]
rs66870448	0.95[ASN][1000 genomes]
rs7263855	0.92[ASN][1000 genomes]
rs8114002	0.94[ASN][1000 genomes]
rs8114105	0.94[ASN][1000 genomes]
rs8117971	0.92[ASN][1000 genomes]
rs8118066	0.93[ASN][1000 genomes]
rs8118441	0.95[ASN][1000 genomes]
rs873216	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1058882	chr20:52765979-52794372	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52768800-52790200	Transcr. at gene 5' and 3'	A549	lung
2	chr20:52769200-52789400	Weak transcription	Esophagus	oesophagus
3	chr20:52769600-52785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:52769800-52777600	Weak transcription	HepG2	liver
5	chr20:52771200-52779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:52771200-52786000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:52776400-52777400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:52776600-52778000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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