Variant report

Variant	rs59450915
Chromosome Location	chr1:46972356-46972357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr1:46972186-46972793	K562	blood:	n/a	n/a
2	MYC	chr1:46972173-46972558	K562	blood:	n/a	n/a
3	ATF1	chr1:46972163-46972502	K562	blood:	n/a	n/a
4	CBX3	chr1:46972035-46972533	K562	blood:	n/a	n/a
5	TEAD4	chr1:46971966-46972632	K562	blood:	n/a	n/a
6	MAZ	chr1:46972253-46972634	K562	blood:	n/a	n/a
7	FOS	chr1:46972049-46972358	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr1:46972153-46972500	K562	blood:	n/a	n/a
9	STAT3	chr1:46972020-46972364	MCF10A-Er-Src	breast:	n/a	n/a
10	CCNT2	chr1:46972122-46972709	K562	blood:	n/a	n/a
11	SRF	chr1:46972284-46972568	K562	blood:	n/a	n/a
12	GATA1	chr1:46971929-46972642	K562	blood:	n/a	n/a
13	HMGN3	chr1:46972257-46972459	K562	blood:	n/a	n/a
14	STAT5A	chr1:46972049-46972525	K562	blood:	n/a	n/a
15	ARID3A	chr1:46972101-46972482	K562	blood:	n/a	n/a
16	CEBPB	chr1:46972046-46972370	IMR90	lung:	n/a	n/a
17	FOS	chr1:46971998-46972415	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr1:46972035-46972406	K562	blood:	n/a	n/a
19	POLR2A	chr1:46972200-46972473	K562	blood:	n/a	n/a
20	RCOR1	chr1:46972136-46972575	K562	blood:	n/a	n/a
21	JUND	chr1:46972115-46972503	K562	blood:	n/a	n/a
22	NR2F2	chr1:46972097-46972557	K562	blood:	n/a	n/a
23	STAT5A	chr1:46972139-46972461	K562	blood:	n/a	n/a
24	NR2F2	chr1:46972036-46972595	K562	blood:	n/a	n/a
25	TAL1	chr1:46972132-46972531	K562	blood:	n/a	n/a
26	FOS	chr1:46972004-46972389	MCF10A-Er-Src	breast:	n/a	n/a
27	CUX1	chr1:46972063-46972506	K562	blood:	n/a	n/a
28	TEAD4	chr1:46972103-46972567	K562	blood:	n/a	n/a
29	HDAC2	chr1:46972224-46972497	K562	blood:	n/a	n/a
30	CEBPB	chr1:46972015-46972487	K562	blood:	n/a	n/a
31	GATA2	chr1:46972058-46972543	K562	blood:	n/a	n/a
32	MAFF	chr1:46972131-46972430	K562	blood:	n/a	n/a
33	IRF1	chr1:46972212-46972484	K562	blood:	n/a	n/a
34	IRF1	chr1:46972174-46972480	K562	blood:	n/a	n/a
35	POLR2A	chr1:46972310-46972479	K562	blood:	n/a	n/a
36	STAT3	chr1:46972045-46972364	MCF10A-Er-Src	breast:	n/a	n/a
37	BHLHE40	chr1:46972228-46972471	K562	blood:	n/a	n/a
38	CEBPD	chr1:46972048-46972589	K562	blood:	n/a	n/a
39	RCOR1	chr1:46972088-46972608	K562	blood:	n/a	n/a
40	MYC	chr1:46972232-46972477	K562	blood:	n/a	n/a
41	FOS	chr1:46972000-46972422	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr1:46972018-46972378	MCF10A-Er-Src	breast:	n/a	n/a
43	TBL1XR1	chr1:46972156-46972499	K562	blood:	n/a	n/a
44	ZMIZ1	chr1:46972179-46972436	K562	blood:	n/a	n/a
45	CEBPD	chr1:46971945-46972883	K562	blood:	n/a	n/a
46	EGR1	chr1:46972298-46972628	K562	blood:	n/a	n/a
47	SRF	chr1:46972226-46972529	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
DMBX1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2209171	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57043956	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59809955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60736242	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv3369229	chr1:46969115-46973113	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46969400-46972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:46969600-46972600	Weak transcription	Right Atrium	heart
3	chr1:46971400-46975600	Enhancers	K562	blood
4	chr1:46972200-46973200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:46972200-46973200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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