Variant report

Variant	rs28592616
Chromosome Location	chr21:15280772-15280773
allele	C/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	ZBTB33	chr21:15280730-15281064	GM12878	blood:	n/a	n/a
2	PAX5	chr21:15279989-15280774	GM12878	blood:	n/a	chr21:15280708-15280717 chr21:15280183-15280192

Variant related genes	Relation type
SNX18P13	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10470238	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10470239	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28404812	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28499148	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4816871	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818676	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818680	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818698	1.00[EUR][1000 genomes]
rs4818700	1.00[EUR][1000 genomes]
rs9979204	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9982965	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9983400	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751923	chr21:14369207-15336787	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	esv2763688	chr21:14425889-15340539	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	esv2756746	chr21:14432699-15336787	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	esv2758809	chr21:14432699-15339752	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1061933	chr21:14452850-15285842	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1063726	chr21:14570272-15316444	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1062730	chr21:14594223-15341527	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
8	esv2758529	chr21:14634532-15339752	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
9	nsv544362	chr21:14678355-15372512	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
10	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
11	nsv544364	chr21:14713155-15372651	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
12	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
14	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
15	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv587016	chr21:14969927-15370863	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
17	nsv587017	chr21:14977445-15375507	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913382	chr21:15011015-15287884	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1059465	chr21:15116712-15347609	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv913387	chr21:15154158-15287884	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv33228	chr21:15170609-15281536	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv913388	chr21:15173846-15400618	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv965971	chr21:15175683-15373907	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
24	nsv1058184	chr21:15199246-15303312	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv9851	chr21:15221055-15286468	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv913392	chr21:15221758-15336419	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv979553	chr21:15222325-15287297	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv913398	chr21:15242552-15302686	Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 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	chr21:15277000-15281400	Weak transcription	Esophagus	oesophagus
2	chr21:15277000-15292200	Weak transcription	Dnd41	blood

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