Variant report

Variant	rs73450337
Chromosome Location	chr13:30503651-30503652
allele	A/T
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	CEBPB	chr13:30503362-30503800	MCF-7	breast:	n/a	chr13:30503560-30503571
2	JUN	chr13:30503466-30503652	HepG2	liver:	n/a	chr13:30503557-30503570
3	CEBPB	chr13:30503388-30503754	A549	lung:	n/a	chr13:30503560-30503571
4	ZNF263	chr13:30503165-30503664	HEK293-T-REx	kidney:	n/a	chr13:30503343-30503352 chr13:30503352-30503373 chr13:30503336-30503345
5	CEBPB	chr13:30503416-30503707	H1-hESC	embryonic stem cell:	n/a	chr13:30503560-30503571
6	CEBPB	chr13:30503374-30503751	HepG2	liver:	n/a	chr13:30503560-30503571
7	JUND	chr13:30503420-30503691	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:30503389-30503743	IMR90	lung:	n/a	chr13:30503560-30503571
9	CEBPB	chr13:30503392-30503703	Hela-S3	cervix:	n/a	chr13:30503560-30503571
10	CEBPB	chr13:30503385-30503745	K562	blood:	n/a	chr13:30503560-30503571

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30502030..30504176-chr13:30507351..30509428,2	MCF-7	breast:
2	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:

Variant related genes	Relation type
LINC00572	TF binding region
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10492461	1.00[ASN][1000 genomes]
rs11838968	1.00[ASN][1000 genomes]
rs11839078	1.00[ASN][1000 genomes]
rs11840419	1.00[ASN][1000 genomes]
rs11840423	1.00[ASN][1000 genomes]
rs11841787	1.00[ASN][1000 genomes]
rs11842111	1.00[ASN][1000 genomes]
rs11842198	1.00[ASN][1000 genomes]
rs11842394	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842819	1.00[ASN][1000 genomes]
rs1557088	1.00[ASN][1000 genomes]
rs17074013	1.00[ASN][1000 genomes]
rs17074016	1.00[ASN][1000 genomes]
rs17074063	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074065	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074067	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074166	1.00[ASN][1000 genomes]
rs17074176	1.00[ASN][1000 genomes]
rs1998729	1.00[ASN][1000 genomes]
rs4238129	1.00[ASN][1000 genomes]
rs4578499	1.00[ASN][1000 genomes]
rs4769786	1.00[ASN][1000 genomes]
rs4769787	1.00[ASN][1000 genomes]
rs4769788	1.00[ASN][1000 genomes]
rs4769790	1.00[ASN][1000 genomes]
rs4769791	1.00[ASN][1000 genomes]
rs496557	1.00[ASN][1000 genomes]
rs524939	1.00[ASN][1000 genomes]
rs525768	1.00[ASN][1000 genomes]
rs552465	1.00[ASN][1000 genomes]
rs61285944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638278	1.00[ASN][1000 genomes]
rs661331	1.00[ASN][1000 genomes]
rs729285	1.00[ASN][1000 genomes]
rs73159369	1.00[ASN][1000 genomes]
rs73159387	1.00[ASN][1000 genomes]
rs73450320	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450326	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450342	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450344	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450347	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450349	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745251	1.00[ASN][1000 genomes]
rs745252	1.00[ASN][1000 genomes]
rs9506248	1.00[ASN][1000 genomes]
rs9508600	1.00[ASN][1000 genomes]
rs9508603	1.00[ASN][1000 genomes]
rs9508605	1.00[ASN][1000 genomes]
rs9508611	1.00[ASN][1000 genomes]
rs9508613	1.00[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30498400-30508000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:30499200-30509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:30503200-30503800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:30503200-30503800	Enhancers	Esophagus	oesophagus
7	chr13:30503200-30504000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30503200-30504200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:30503400-30503800	Enhancers	Lung	lung
10	chr13:30503400-30504000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:30503600-30503800	Enhancers	Pancreas	Pancrea
12	chr13:30503600-30504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:30503600-30504000	Enhancers	NHEK	skin

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