Variant report

Variant	rs377330792
Chromosome Location	chr14:19966345-19966346
allele	-/CA
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	GATA2	chr14:19965568-19966461	K562	blood:	n/a	chr14:19965823-19965830 chr14:19965823-19965830 chr14:19965821-19965830 chr14:19965823-19965830 chr14:19965816-19965837 chr14:19965812-19965829 chr14:19965821-19965831

Variant related genes	Relation type
ENSG00000257931	TF binding region

Extended variants
information (count: 345 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050069	chr14:19273613-20010901	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1036591	chr14:19273613-20105479	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1045892	chr14:19273613-20221839	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1041547	chr14:19273613-20241852	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv563597	chr14:19280733-20075427	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv530768	chr14:19323022-20180453	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1050849	chr14:19335739-20010901	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1050003	chr14:19335739-20217561	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv1054019	chr14:19335739-20232626	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1053511	chr14:19335739-20259951	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
11	nsv563613	chr14:19376736-20317747	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv1052207	chr14:19382197-20010901	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	nsv1040110	chr14:19382197-20105479	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	nsv1043078	chr14:19382197-20203886	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
15	nsv1045112	chr14:19382197-20211644	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv1041816	chr14:19382197-20253780	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
17	nsv1047744	chr14:19382197-20259951	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
18	nsv1040783	chr14:19382197-20267876	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
19	nsv1039008	chr14:19382197-20321078	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
20	nsv1052826	chr14:19382197-20329765	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
21	nsv1049532	chr14:19382197-20341294	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
22	nsv563615	chr14:19401281-20317747	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
23	nsv1044178	chr14:19416179-20010901	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
24	nsv1053042	chr14:19416179-20105479	ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
25	nsv1045783	chr14:19416179-20201105	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
26	nsv1036687	chr14:19416179-20203886	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
27	nsv1054774	chr14:19416179-20212323	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
28	nsv1037829	chr14:19416179-20214488	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
29	nsv1044592	chr14:19416179-20232626	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
30	nsv1054743	chr14:19416179-20259951	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
31	nsv1048077	chr14:19416179-20267876	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
32	nsv1039372	chr14:19416179-20283021	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
33	nsv1051849	chr14:19416179-20299682	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
34	nsv1040031	chr14:19416179-20310923	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
35	nsv1046372	chr14:19416179-20315710	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
36	nsv1047362	chr14:19416179-20321078	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
37	nsv1049040	chr14:19416179-20328317	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
38	nsv1041939	chr14:19416179-20354993	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
39	nsv1036335	chr14:19416179-20395115	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
40	nsv1036652	chr14:19416179-20402570	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
41	nsv1047279	chr14:19416179-20407630	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
42	nsv1052468	chr14:19416179-20413659	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
43	nsv1035296	chr14:19416179-20413846	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
44	nsv563623	chr14:19427159-20317747	Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
45	nsv1041691	chr14:19437975-20010901	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
46	nsv1052317	chr14:19437975-20105479	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
47	nsv1038873	chr14:19437975-20201105	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
48	nsv1043361	chr14:19437975-20203886	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
49	nsv1048880	chr14:19437975-20212323	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
50	nsv1049629	chr14:19437975-20226769	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

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