Variant report

Variant	rs73751075
Chromosome Location	chr5:43333428-43333429
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	USF1	chr5:43333293-43333441	HepG2	liver:	n/a	n/a
2	RXRA	chr5:43333287-43333493	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:43332725-43333434	K562	blood:	n/a	n/a
4	SP1	chr5:43333167-43333493	HepG2	liver:	n/a	n/a
5	USF1	chr5:43333270-43333473	HepG2	liver:	n/a	n/a
6	GATA2	chr5:43333033-43333489	K562	blood:	n/a	n/a
7	JUND	chr5:43333237-43333508	HepG2	liver:	n/a	n/a
8	EP300	chr5:43333258-43333553	HepG2	liver:	n/a	n/a
9	FOSL2	chr5:43333103-43333538	HepG2	liver:	n/a	n/a
10	FOSL2	chr5:43333232-43333483	HepG2	liver:	n/a	n/a
11	ESR1	chr5:43333147-43333559	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43312181..43314042-chr5:43332862..43335052,2	K562	blood:

Variant related genes	Relation type
ENSG00000188850	TF binding region
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10037409	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10038859	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10040897	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10043148	0.86[EUR][1000 genomes]
rs10052384	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10054415	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056437	0.86[EUR][1000 genomes]
rs10062031	0.86[EUR][1000 genomes]
rs10062121	0.86[EUR][1000 genomes]
rs10062598	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10064967	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10067763	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10077324	1.00[EUR][1000 genomes]
rs10079530	1.00[EUR][1000 genomes]
rs10473306	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473308	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11955467	1.00[EUR][1000 genomes]
rs1478436	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874093	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16874094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450849	0.86[EUR][1000 genomes]
rs28608156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28688522	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28856961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4326149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645370	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520238	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6865440	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6884349	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6892413	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6893898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894240	0.94[AFR][1000 genomes]
rs7356654	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7356727	0.87[AMR][1000 genomes]
rs73751078	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73751082	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73751083	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7710717	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7715267	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729140	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729145	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7733732	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292870	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292872	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292875	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv3360596	chr5:43315646-43336665	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43332600-43333800	Enhancers	Hela-S3	cervix
2	chr5:43333000-43333800	Enhancers	K562	blood

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