Variant report

Variant	rs550751466
Chromosome Location	chr21:14491776-14491777
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	CTCF	chr21:14491766-14491881	Medullo	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000237202	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809537	chr21:14338286-14497151	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv834042	chr21:14348575-14492189	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1066559	chr21:14364519-14532538	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1056208	chr21:14364519-14540019	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1062637	chr21:14364519-14566359	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1061884	chr21:14364519-14570562	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1066247	chr21:14364519-14597020	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1057100	chr21:14364519-14603577	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1055866	chr21:14364519-14621507	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1061209	chr21:14364519-14623773	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1060904	chr21:14364519-14635289	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1064938	chr21:14364519-14642464	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1062761	chr21:14364519-14936736	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1057160	chr21:14364519-15033967	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
15	nsv1055192	chr21:14364519-15153262	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
16	esv2751922	chr21:14369207-15214196	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
17	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
18	nsv964475	chr21:14372826-14528310	Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
19	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
20	nsv1067181	chr21:14414125-15087941	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
21	esv2756190	chr21:14425542-14849628	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
22	esv2756182	chr21:14425542-15180839	ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
23	nsv432144	chr21:14425542-15181242	Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
24	esv2760689	chr21:14425889-15110485	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	nsv1062937	chr21:14432772-15153262	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
29	esv1810368	chr21:14436791-14566371	Enhancers Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
30	esv1812866	chr21:14441751-14555337	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
31	esv1805317	chr21:14446700-14532538	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
32	esv1814956	chr21:14446712-14549965	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv913341	chr21:14452247-14501474	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv913342	chr21:14452247-14511328	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv913343	chr21:14452247-14524688	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
36	esv2421799	chr21:14452247-14549965	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
37	esv1813503	chr21:14452850-14532538	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
38	nsv1065021	chr21:14452850-14597020	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
39	nsv1059325	chr21:14452850-15075469	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
40	nsv1067043	chr21:14452850-15088037	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
41	nsv1059401	chr21:14452850-15134369	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
42	nsv1060254	chr21:14452850-15137578	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
43	nsv1056643	chr21:14452850-15148130	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
44	nsv1062126	chr21:14452850-15153262	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
45	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
46	esv1814940	chr21:14452862-14541369	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
47	esv3584773	chr21:14452862-14541369	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
48	nsv442784	chr21:14452862-14541369	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
49	esv1807475	chr21:14452862-14549965	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
50	esv1809245	chr21:14452862-14549965	Bivalent/Poised TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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