Variant report

Variant	rs28570984
Chromosome Location	chr5:147235883-147235884
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	POLR2A	chr5:147230386-147238906	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:147230397-147244635	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:147235848-147236097	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr5:147230473-147237490	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:147230878-147238649	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr5:147235838-147235895	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:147235830-147236063	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000249518	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10039761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043586	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078349	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13353996	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13355958	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356314	0.82[AFR][1000 genomes]
rs13360178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401755	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437385	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478293	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28479902	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588162	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609427	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613022	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684497	1.00[EUR][1000 genomes]
rs28707309	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59404183	1.00[EUR][1000 genomes]
rs60735175	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:147228800-147236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:147234200-147239600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
4	chr5:147234400-147239800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:147234600-147237800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:147235000-147237400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:147235000-147239000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:147235800-147237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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