Variant report

Variant	rs3017220
Chromosome Location	chr21:15250019-15250020
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34450899	0.82[AMR][1000 genomes]
rs62209121	0.94[AMR][1000 genomes]
rs62209123	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62209125	0.91[AMR][1000 genomes]
rs9974328	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

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	esv2830056	chr21:14402064-15275981	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1059560	chr21:14467767-15255416	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
8	nsv586988	chr21:14482370-15269923	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1057563	chr21:14570272-15255416	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
10	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
11	nsv1060053	chr21:14594223-15255416	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
12	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
13	nsv1056312	chr21:14597009-15255416	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1062576	chr21:14600070-15255416	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1058731	chr21:14603577-15255416	Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
16	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
17	nsv515654	chr21:14640400-15275981	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv1056514	chr21:14649798-15255416	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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
24	nsv1056303	chr21:14760841-15255416	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	nsv1058184	chr21:15199246-15303312	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv913389	chr21:15215814-15275981	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv3452	chr21:15218169-15277456	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv9851	chr21:15221055-15286468	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
39	nsv913390	chr21:15221758-15259940	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
40	nsv913391	chr21:15221758-15275981	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
41	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
42	nsv979553	chr21:15222325-15287297	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
43	esv17845	chr21:15224006-15274199	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
44	nsv913393	chr21:15228353-15275981	Enhancers ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
45	esv3487792	chr21:15229504-15268367	Active TSS Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
46	esv3487793	chr21:15229504-15268367	Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
47	esv8965	chr21:15230826-15270051	ZNF genes & repeats Weak transcription Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
48	nsv913394	chr21:15231760-15270083	Enhancers Weak transcription Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
49	nsv913395	chr21:15231760-15275981	ZNF genes & repeats Enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
50	nsv436341	chr21:15237607-15255618	Active TSS ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15247600-15256200	Weak transcription	Dnd41	blood
2	chr21:15249400-15250200	Enhancers	K562	blood

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