Variant report

Variant	rs57249853
Chromosome Location	chr5:5079258-5079259
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	MAZ	chr5:5079203-5079275	Hela-S3	cervix:	n/a	n/a
2	MAX	chr5:5078294-5079443	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:5078225-5079359	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr5:5078141-5079517	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000250529	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10041690	1.00[EUR][1000 genomes]
rs10042128	1.00[EUR][1000 genomes]
rs10074970	1.00[EUR][1000 genomes]
rs11949594	1.00[EUR][1000 genomes]
rs11959101	0.82[AMR][1000 genomes]
rs12108705	1.00[EUR][1000 genomes]
rs13354897	1.00[EUR][1000 genomes]
rs13360125	1.00[EUR][1000 genomes]
rs13360164	1.00[EUR][1000 genomes]
rs1551942	1.00[EUR][1000 genomes]
rs1651743	1.00[EUR][1000 genomes]
rs16874580	1.00[EUR][1000 genomes]
rs16874600	1.00[EUR][1000 genomes]
rs16874607	1.00[EUR][1000 genomes]
rs16874685	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16874686	0.82[AMR][1000 genomes]
rs16874707	1.00[EUR][1000 genomes]
rs16874713	1.00[EUR][1000 genomes]
rs16874715	0.82[AMR][1000 genomes]
rs16874716	1.00[EUR][1000 genomes]
rs28392909	1.00[EUR][1000 genomes]
rs479124	1.00[EUR][1000 genomes]
rs55751833	1.00[EUR][1000 genomes]
rs56111006	1.00[EUR][1000 genomes]
rs56147613	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57546252	0.82[AMR][1000 genomes]
rs58125360	1.00[EUR][1000 genomes]
rs59405131	1.00[EUR][1000 genomes]
rs595135	1.00[EUR][1000 genomes]
rs59746989	1.00[EUR][1000 genomes]
rs59778893	0.82[AMR][1000 genomes]
rs60511041	1.00[EUR][1000 genomes]
rs607839	1.00[EUR][1000 genomes]
rs61048069	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6555329	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6555330	1.00[EUR][1000 genomes]
rs670244	1.00[EUR][1000 genomes]
rs6866197	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6868249	1.00[EUR][1000 genomes]
rs6868252	1.00[EUR][1000 genomes]
rs6873058	1.00[EUR][1000 genomes]
rs6886525	1.00[EUR][1000 genomes]
rs6887691	0.82[AMR][1000 genomes]
rs73032456	0.82[AMR][1000 genomes]
rs73032459	0.82[AMR][1000 genomes]
rs73032472	0.82[AMR][1000 genomes]
rs73032478	0.82[AMR][1000 genomes]
rs73032481	0.82[AMR][1000 genomes]
rs73049833	0.88[AMR][1000 genomes]
rs73738308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73738309	1.00[EUR][1000 genomes]
rs73738321	1.00[EUR][1000 genomes]
rs73738330	1.00[EUR][1000 genomes]
rs73738332	1.00[EUR][1000 genomes]
rs7720792	1.00[EUR][1000 genomes]
rs7725410	1.00[EUR][1000 genomes]
rs891002	1.00[EUR][1000 genomes]
rs891003	1.00[EUR][1000 genomes]
rs9284963	1.00[EUR][1000 genomes]
rs9313094	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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5075600-5079400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:5076000-5079400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:5076000-5079400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:5077000-5079600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:5077800-5079400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:5077800-5079600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:5078000-5079400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:5078200-5079400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:5078200-5079400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:5078400-5079400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:5078400-5079400	Enhancers	Fetal Lung	lung
12	chr5:5078400-5079600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:5078600-5080200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:5078800-5080000	Weak transcription	Fetal Kidney	kidney
15	chr5:5079000-5079400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr5:5079000-5079600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:5079000-5080000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:5079200-5080200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:5079200-5081200	Weak transcription	Gastric	stomach

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